bluuebunny/crossref_metadata_2025 huggingface dataset:
Choroidal thickness in exudative age‐related macular degeneration and influence of intravitreal anti‐VEGF treatment
Authors: Rodrigues Rita , Moleiro Ana , Carneiro Ângela , Falcão Manuel
Published: December 2022

Purpose: To evaluate choroidal thickness progression over time in patients with exudative age‐related macular degeneration (AMD) and its relation with anti‐VEGF treatment.

Methods: Retrospective observational case series. Study group included patients observed between January 2022 and April 2022 at Ophthalmology Department of Hospital de São João, Porto, Portugal, diagnosed with bilateral exudative AMD (eAMD) or unilateral eAMD and intermediate AMD (iAMD) in contralateral eye with a minimum follow up of 2 years. Subfoveal choroidal thickness was measured in each of the studied eyes using cross‐sectional spectral domain optical coherence tomography images, obtained every year during follow‐up period. Statistical analysis was performed to correlate choroidal thickness variation with number of intravitreal injections.

Results: 66 eyes with eAMD and 20 eyes with iAMD from 43 patients (mean age, 81.15 ± 6.10 years) followed during 7.15 ± 2.65 years. eAMD eyes were treated with 54.83 (range 6–100 injections) anti‐VEGF intravitreal injections. Choroidal thickness of eyes with eAMD decreased 56.65 ± 11.66 μm over the follow up period (p < 0.001) at a rate of 6.49 μm per year. Choroidal thickness of eyes with iAMD decreased 29.30 ± 22.07 μm over the follow up period (p > 0.2) at a slower rate of 0.68 μm per year. In the subgroup of patients with unilateral eAMD and contralateral iAMD (n = 20), choroidal thickness changes were significantly different between the two eyes (p < 0.001). Number of intravitreal injections correlated inversely with choroidal thickness in eyes with eAMD (r = −0.232; p < 0.001).

Conclusions: A significant thinning of choroid in eyes with eAMD and an inverse correlation with number of anti‐VEGF injections was observed, suggesting the influence of prolonged anti‐VEGF suppression on choroidal thickness decrease. Further studies with a higher number of eyes are needed to validate our results.
Photoreceptor density in dependence of axial length and retinal location in human eyes
Authors: Panda‐Jonas Songhomitra , Jonas Jost , Jonas Rahul
Published: December 2022

Purpose: To examine the density of retinal photoreceptors and retinal pigment epithelium (RPE) cells in relation to myopic axial elongation in human eyes.

Methods: Using light microscopy, we counted the density of photoreceptors and RPE cells at the ora serrata, the equator, and at the midpoint between the equator and the posterior pole (MEPP) in enucleated human globes .

Results: The study included 78 eyes (mean age: 59.2 ± 15.6 years; range: 32–85 years) with a mean axial length of 27.3 ± 3.6 mm (range: 21.5–37.0 mm). Close to the ora serrata, at the equator and at the MEPP, the photoreceptor and RPE cell density was 11.8 ± 8.8, 29.0 ± 14.3 and 52.3 ± 21.1 cells/48 μm and 27.0 ± 6.6, 21.7 ± 7.2 and 23.4 ± 7.5 cells/480 μm, respectively. Densities of both cell types in all regions measured were positively correlated with each other (all p < 0.001), and decreased with longer axial length (all p < 0.001) and retinal length (all p < 0.001), most marked at the MEPP and least marked close to the ora serrata. Close to the ora serrata, at the equator and at the MEPP, differences between both globe sides in photoreceptor and RPE cell density were 3.98 ± 3.91, 8.93 ± 8.03 and 11.8 ± 11.1 cells/48 μm and 4.67 ± 4.37, 4.27 ± 3.13 and 5.30 ± 4.65 cells/480 μm, respectively. They were not significantly (all p > 0.05) related with axial length and did not differ (all P > 0.05) between both globe sides.

Conclusions: The axial elongation‐associated decrease in photoreceptor and RPE cell density is most marked at the MEPP, followed by the equator and finally the ora serrata region. It suggests that the axial elongation‐associated enlargement of the eye wall predominantly takes place in the retro‐equatorial region, followed by the equatorial region. Side differences in cell densities suggest different elongation rates between both sides of the globe.
Dopamine is involved in regulating vascular tone in retinal arterioles
Authors: Eysteinsson Thor , García‐Llorca Andrea
Published: December 2022

Purpose: There is clinical evidence suggesting that the neurotransmitter dopamine may play a role in regulating retinal vascular function. Patients with Parkinson's disease tend to have a narrower retinal vessel diameter in fundus images and reduced perfusion density1. Healthy volunteers given dopamine IV show increased retinal blood cell velocity (by 37%) and fundus pulsation amplitude (by 24%)2. However, it is not clear if these observed effects may be due to direct actions of dopamine on retinal vessels, independent of any systemic actions, and if so through which subtype of dopamine receptors. We therefore measured the effects of dopamine ligands on isolated segments of porcine retinal arterioles by small wire myography.

Methods: Dissected segments of porcine retinal arterioles and surrounding retinal tissue were mounted in a DMT630MA small wire myograph system for measurement of contractile activity, and pre‐contracted with 10−6 MU‐46619, a thromboxane analog, added to the organ bath. With the vascular tone stabilized, all dopamine ligands tested were applied separately to the bath with the vessel, and the effects of each on the wall tension recorded. Results are presented as wall tension (in mN/mm) normalized for vessel length.

Results: In isolated vessel segments pre‐contracted with U‐46619, dopamine induced a vasodilation in a dose‐dependent manner, which was complete at 2 mM. The dopamine D1 receptor agonist SKF38393 induced dose‐dependent vasodilation, complete at 0.7 mM. The D2 receptor agonist sumanirole (10−4 M) had no effect on wall tension in pre‐contracted retinal arterioles. The D2 receptor antagonist S‐sulpiride (10−3 M) had no effect on wall tension and did not block the vasodilation induced by either dopamine or SKF38393.

Conclusions: Dopamine induces vasodilation in pre‐contracted retinal arterioles, primarily via D1 receptors.

References

1. Cason, B. et al. JAMA Ophthalmol., 2021; 139(2), 181–188.

2. Huemer, K‐H. et al, Br J. Ophthalmol., 2007; 91, 1194–1198.
Corneal epithelial microcysts as side effect of belantamab mafodotin: Management and evolution
Authors: Fabra Yolanda Cifre , Parot Álvaro Andrés Ojeda , Calduch Patricia Bayo , Duch‐Samper Antonio M.
Published: December 2022

Purpose: Blenrep® (Belantamab mafodotin) is an antibody‐drug conjugate that targets an overexpressed antigen in myeloma plasma cells. This agent has its indication on adults with triple‐class refractory multiple myeloma (MM). The most frequently reported adverse event is the appearance of microcyst‐like epithelial changes in the cornea (MEC), produced by the apoptosis of epithelial cells. Our purpose is to describe these findings and their evolution.

Methods: The evaluation of the MM patients treated with Blenrep® is a coordinated labor between ophthalmology and haematology departments. At the beginning of the treatment, a regulated baseline examination including visual acuity (VA) and slit lamp examination is performed and a cold mask and artificial tears are provided. Subsequently examination is repeated every 3 weeks, prior to the administration of the next cycle. The ophthalmological findings determine if the next dose can be administered or if it has to be postponed due to a VA loss. The evolution of three patients undergoing Blenrep® treatment was analysed, using anterior segment photography and OCT.

Results: 31–92% of the patients on Blenrep® develop ocular events. In our case, the three patients studied developed epitheliopathy during the follow up. One of them, after 2 months, presented a VA loss due to MEC affecting visual axis that required next dose administration delay following haematologist's recommendation. After that period, the microcysts disappeared and VA was recovered. The other two patients also developed MEC, but did not need modification of the scheme since VA was not affected.

Conclusions: Blenrep® has proved to be effective on the treatment of triple‐class refractory MM. Its principal adverse event is the appearance of MEC, which in some cases may impair the VA. This effect is reversible with the disappearance of the microcysts with the corneal epithelial regeneration cycle by prolonging the interval between the doses.
Selective proteasome inhibition activates AIM2 inflammasome in human retinal pigment epithelium cells
Authors: Gurubaran Iswariyaraja Sridevi , Hytti Maria , Kaarniranta Kai , Kauppinen Anu
Published: December 2022

Purpose: Dysfunctional intracellular clearance is associated with various diseases, including age‐related macular degeneration (AMD). Previously, we reported the inhibition of intracellular clearance by the non‐selective proteasome inhibitor MG‐132 resulted in oxidative stress‐mediated NLR family pyrin domain containing 3 (NLRP3) inflammasome activation and subsequent interleukin‐1β (IL‐1β) secretion in human ARPE‐19 cells. In this study, we used the selective proteasome inhibitor epoxomicin and examined its effect on the inflammasome activation and IL‐1β production.

Methods: IL‐1α‐primed human‐derived ARPE‐19 cells were exposed either to MG‐132 or epoxomicin and the autophagy inhibitor bafilomycin A (BafA) and studied using enzyme‐linked immunosorbent assay and cytotoxicity tests.

Results: Our data reveal epoxomicin‐induced proteasome inhibition led to NADPH oxidase and mitochondria‐mediated oxidative stress‐related release of mitochondrial DNA to the cytosol, which then resulted in potassium efflux‐dependent absent in melanoma 2 (AIM2) inflammasome activation and subsequent release of inflammatory cytokine IL‐1β in ARPE‐19 cells.

Conclusions: Our study emphasizes the role of AIM2 inflammasome in RPE cell degeneration along with the well‐known NLRP3 inflammasome and may represent a novel therapy target.
Mapping of the ocular surface enzymes in healthy subjects
Authors: Arslan Murat Akkurt , Kessal Karima , Baudouin Christophe , Brignole‐Baudouin Françoise
Published: December 2022

Purpose: This study aimed to pool identified enzymes from numerous comprehensive open‐access proteomic studies to profile and classify detected enzymes on the ocular surface (OS).

Methods: Data were taken from studies that analysed tear samples of healthy subjects either collected by capillary tubes (CT (tears), n = 5) or Schirmer strips (ScS, n = 5). Enzymes were mapped using UniProt ‘enzyme class’ (EC) and Panther software. Functional analysis was done using Metascape.

Results: In total, 1010 enzymes were identified from all studies which are classified as oxidoreductases (EC1, 13.4%), transferases (EC2–30.3%), hydrolases (EC 3–42.3%), lyases (EC 4–4.3%), isomerases (EC5–4.1%), ligases (EC6–4.1%), translocases (EC 7–1.4%). More isomerases (5% vs. 3.4%) and ligases (4.7% vs. 4.1%) could be identified in ScS samples. Isomerases formed 5.6% of specific enzymes detected only in ScS while no specific isomerase was found in tears. Antioxidant and antimicrobial enzymes, EC1 class, were formed by dehydrogenases 36.2%, reductases 23.3%, oxidoreductases 18.1%, peroxidases 10.3%, oxygenases 7.8% and oxidases 4.3%. Alcohol oxidoreductases (EC1.1) were the most represented subgroup of EC1 with 46 enzymes (34.3%). Of all enzymes EC2.7 (phosphotransferases), EC3.1 (esterases) and EC3.4 (peptidases) were the most represented subclasses with 156, 151, 172 enzymes, respectively. The metabolic process of carbohydrate (14.7%), nucleobase‐containing small molecule (15.6%), cellular amide (14.7%) and carbohydrate derivative biosynthetic process (12%) were the most representative biological processes of all identified enzymes. Neutrophil degranulation, carbon and amino acid metabolism were the main pathways respectively that these enzymes are involved.

Conclusions: Open‐access proteomic studies enable the pooling of all detected proteins and enzymes to have a great quantity of data. OS harbours hundreds of enzymes, which are involved in the homeostasis and defence mechanisms of OS. Enzymes could be attractive targets for novel treatments in OS pathologies due to their druggability property.
New model of complete retinal degeneration: A good tool for therapeutic essays?
Authors: Paleo Víctor , Milla Santiago , Germain Francisco , de la Villa Pedro
Published: December 2022

Purpose: To characterize a mouse model of complete blindness after induction of retinal degeneration based on the degenerative capacity of NaIO3 on cell photoreceptors, rods and cones, and to test the effect of new pharmacological tools.

Methods: Two doses of NaIO3 (40 mg/kg and 60 mg/kg) were intraperitoneally injected into a series of C57BL/6J mice with a mutation in the Opn4−/− gene. The effect of NaIO3 on the retina was assessed at 7, 14, 21 and 28 days after the injection by means of visual behavioural test, electroretinogram (ERG) recordings and immunohistochemical staining. To further assert the model's effectiveness, new optopharmacological agents were tested on the developed model, followed by visual testing.

Results: Both doses of the degenerative agent induced a gradual reduction of the visual capacities of the animals. The different components of the ERG waves showed a marked decrease in their amplitude throughout the 28 days of the experiment, with the 60 mg/kg dose provoking a more pronounced functional loss. Similar results were observed in the behavioural tests, in which the animals' visual sensitivity, visual acuity, photomotor capacity were highly decreased. Same tests were performed under the effect of new optopharmacological therapies. Our results demonstrate not only the model's effectiveness, but also the usefulness of the new therapy for vision recover.

Conclusions: NaIO3 induced murine model of retinal degeneration seems to be a good model for testing new pharmacological approaches to retinal diseases. Assessment of retinal function by electrophysiological tests, visual animal behaviour and retinal histology seem to be basic and reliable techniques for the evaluation of drug effect on this new animal model.
Uveitis in the elderly: Clinical and demographic characteristics
Authors: El Mayel Amina , Amor Hager Ben , Romdhane Marwa , Aoun Hichem , Attia Sonia , Khairallah Moncef
Published: December 2022

Purpose: To describe clinical characteristics and etiological profile of uveitis presenting for the first time in the elderly and explain its therapeutic challenges and evolutive particularities.

Methods: Retrospective review of 170 patients in the department of ophthalmology in Fattouma Bourguiba University Hospital, in the period between January 2007 and January 2021.

Results: During the study, 221 eyes of 170 patients were affected by uveitis. The mean age was 59.32 ± 7.32 years and a female gender predominance was registered (61.1% were women). The most prevalent anatomical pattern was anterior uveitis (45/170; 26.4%) followed by panuveitis (33.5%). According to laterality, bilateral involvement (53.6%) was more registered. The majority of cases were chronic (67.2%), acute cases occurred in 31.7%, the rest of the cases (10%) were recurrent. Idiopathic uveitis was diagnosed in 21 cases (12.3%). A definitive or presumed specific aetiology was determined in most of our cases (87.7%), the most common specific aetiology in our case series was sarcoidosis (15.2%) followed by ocular Tuberculosis (12.9%), Herpes simplex virus anterior uveitis (10.5%), and chronic recurrent Vogt‐Koyanagi‐Harada disease (9.4%). An Infectious aetiology was established in 39.4% of the cases and noninfectious systemic autoimmune causes accounted for 24.1%. 53 eyes (16.2%) of 33 patients (19.4%) presented complications during the studied period. The most common ocular complication was uveitic cataract occurring in 38% of the cases.

Conclusions: Epidemiological characteristics of uveitis in the elderly population is different from other age categories, which should influence the diagnostic approach in these patients.
The effect of chlorhexidine, povidone‐iodine and betadine antiseptic eye drops on cultured human conjunctival goblet cell survival
Authors: Hadad Rubin
Published: December 2022

Purpose: To compare the effect of ocular antiseptic treatment in terms of 0.05% aqueous chlorhexidine, 5% povidone‐iodine (PI) and 5% betadine on cell viability and mucin secretion of primary cultured human goblet cells.

Methods: Cell viability of primary cultured human goblet cells was analysed using lactate dehydrogenase (LDH) and tetrazolium dye (MTT) colorimetric assays. Expression of mucin was visualized by immunohistochemical staining of MUC5AC.

Results: According to the LDH assay, PI and betadine significantly reduced goblet cell survival compared to controls (mean cell survival 23% ± 6 and 23% ± 7, respectively) (p < 0.05), whereas chlorhexidine (mean cell survival 78 ± 17) did not significantly affect goblet cell viability. Similar results were obtained from the MTT assay, where PI and betadine caused a significant loss of goblet cells (mean cell survival 26% ± 12 and 26% ± 13, respectively) (p < 0.05), and chlorhexidine caused a non‐significant loss of goblet cells compared to controls (mean cell survival 79% ± 8).

Conclusions: PI and betadine, the most used antiseptic treatments prior to ocular surgery, are significantly more cytotoxic on conjunctival goblet cells compared to chlorhexidine.
Ocular manifestations in Arnold Chiari syndrome
Authors: Choura Racem , Sayadi Jihene , Gouider dhouha , Mekni Manel , Raihan Haythem , Aidi Nourhene , Zeghal Imene , Malek Ines , Nacef Leila
Published: December 2022

Purpose: Arnold‐Chiari disease is a rare congenital malformation of the cerebellum. Symptoms are dominated by occipital headache, torticollis, and sometimes swallowing disorders. Regarding ophthalmological manifestations, convergence abnormalities, oculomotor paralysis and diplopia are the main clinical signs. We report two cases of ocular manifestations in Arnold Chiari type 1 syndrome.

Methods: Two case reports and a literature review.

Results:

Case 1: A 40‐year‐old patient with no medical history presented an acute loss of vision in both eyes. On examination, the patient had a visual acuity limited to 5/63. Biomicroscopic examination of the anterior segment was without abnormalities. Fundus examination revealed a bilateral papillary edema. Visual field test showed a borderline diffuse loss in both eyes.

Case 2: A 17‐year‐old patient with no medical history presented intermittent headaches and a progressive loss of vision in both eyes. On examination, the patient had a visual acuity limited to 5/80. Biomicroscopic examination of the anterior segment was without abnormalities. Fundus examination revealed atrophy not excavated in both eyes. Visual field test showed nasal and temporal scotomas in both eyes. Temporal, superior and inferior RNFL defects were detected in both eyes. A brain MRI revealed a Chiari type 1 malformation without associated hydrocephalus in both patients.

Conclusions: Arnold Chiari type 1 malformation is an uncommon pathology. The discovery of ophthalmologic signs requires a neurosurgical intervention as soon as possible to stop progression towards the loss of visual function by optic atrophy.
Autophagy modulation in organotypic retinal cultures exposed to high glucose
Authors: Adornetto Annagrazia , Laganà Maria Luisa , Satriano Andrea , Bagetta Giacinto , Russo Rossella
Published: December 2022

Purpose: Diabetic retinopathy (DR) is one of the most serious complications of diabetes mellitus and a leading cause of vision loss among working‐age population in industrialized countries (1, 2). DR has long been considered a microvascular disease (3). However, more recently, neurodegeneration and neuroinflammation emerged as important determinants in the pathogenesis and evolution of the pathology (4). Autophagy, the main catabolic pathway involved in the degradation and recycling of damaged organelles and macromolecules, plays an important role in the pathophysiology of retina neurodegenerative diseases (5). Here we studied the changes occurring in ex‐vivo cultured retinas under normal and high glucose conditions and focused on the autophagy pathway.

Methods: Organotypic retinal culture from C57BL/6J mice were exposed to normal (15 mM) (NG) or high (50 mM) glucose (HG) for 7 days. Neuronal survival and glial activation were studied by immunofluorescence with cell subtype specific antibodies. Protein or mRNA levels of autophagy‐related proteins (LC3, p62, Atg5‐12) and inflammatory markers (GFAP, IL‐1β and IL‐6) were studied by western blotting or quantitative PCR.

Results: Loss of the neuronal components and reduction of glial reactivity were observed in the retina maintained in NG for 7 days. These cellular changes were only slightly affected by exposure to HG. However, under these conditions an upregulation of inflammatory related proteins and significant changes in the autophagic flux were reported.

Conclusions: Our preliminary data suggest that autophagy is modulated in organotypic retinal cultures exposed to HG although further experiments are needed to define its pathological role.

References.

1. Seewoodhary M. Nurs Stand(2021; 30 36: 71–76.

2. Prokofyeva E and Zrenner E. Ophthalmic Res 2012; 7 47: 171–188.

3. Cheung CY et al. Diabetologia 2017; 60: 1770–1781.

4. Kadłubowska J et al. Curr Neuropharmacol 2016; 14: 831–839.

5. Adornetto A et al. Front Cell Dev Biol 2020; 4;8: 121.

This work is supported by grants from the Italian Ministry of Education, University and Research: PRIN 2017 protocol number “2017TSHBXZ_002.”
Cataract management in a patient with nanophthalmos
Authors: Moscarda Eva Josefina Núñez , de Rivas Marta Orejudo , Arias Pablo Cisneros , Rivases Guillermo Pérez , El Bakkali Ismael Bakkali , Martinez Marta Suñer , Claveria Julia Aramburu , Fernandez Miguel Castillo , Sayas Maria Angeles Del Buey
Published: December 2022

Purpose: To describe the clinical characteristics, the surgical management and the evolution after cataract surgery in a patient with nanophthalmos.

Methods: We present the case of a 57‐year‐old woman with a progressive decrease in visual acuity referred for evaluation of a cataract intervention. As history, he presented high hyperopia [Right Eye (OD): +15.50; Left Eye (OS): +16.25], not corrected with glasses in childhood; episode of pupillary block 3 years ago treated with iridotomies in OD and chronic treatment with topical prostaglandin in both eyes. The best corrected visual acuity (BCVA) is 20/50 in both eyes. Slit‐lamp examination revealed very narrow anterior chambers, patent iridotomies, iridocrystalline synechiae, and advanced nuclear cataracts. Intraocular pressure is 21 mmHg in both eyes with latanoprost. Biometry reveals an axial length of 16.59 mm in OD and 16.60 mm in OS. A cataract was diagnosed in patient with bilateral nanophthalmos and it was decided to intervene in the OD. In surgery, 2 lamellar scleral incisions were made followed by suturing of the overlying conjunctiva and phacoemulsification with a 40D intraocular lens implant in the posterior chamber. Systemic corticosteroids were administered postoperatively.

Results: Postoperative complications observed were: posterior synechiae and anterior capsule phimosis that required Nd‐YAG laser capsulotomy. Despite the good evolution, no improvement was obtained in visual acuity with respect to pre‐surgical values, and the patient currently has a BCVA of 20/50.

Conclusions: Eyes with nanophthalmos require the recognition of cardinal signs of paramount importance for their diagnosis, as well as follow‐up and search for possible complications over time, and the use of extensive preoperative precautionary measures when surgical approach is necessary.
Does taurine have a role in the phagocytic function of the retinal pigment epithelium?
Authors: Vacas Ana Martínez , Di Pierdomenico Johnny , Valiente‐Soriano Francisco Javier , Picaud Serge , Vidal‐Sanz Manuel , Perez Maria Paz Villegas , García‐Ayuso Diego
Published: December 2022

Purpose: To study the role of taurine in the morphology and phagocytic function of the retinal pigment epithelium (RPE) in normal and dystrophic rats.

Methods: Albino Sprague–Dawley (SD) rats and pigmented dystrophic Royal College of Surgeons (RCS‐p+) rats that suffer a severe form of inherited photoreceptor degeneration due to RPE phagocytosis impairment, were used for this study. SD rats received β‐alanine in drinking water (3%) for 2 months from P21 to induce taurine depletion and RCS‐p + rats received taurine supplementation in drinking water (0.2 M) for 24 days from P21. Groups of untreated RCS and SD rats were used as control. SD rats were processed 2 months after the start of treatment, while RCS rats were processed at P45. Twenty‐four hours before processing, the animals received an intravitreal injection of 1.5 μl of 3% fluorogold (FG) diluted in saline 24 to label the RPE cells. Animals were processed and the RPE was dissected flat‐mounted and observed using a confocal microscope (Leica SP8).

Results: In control SD animals, Fluorogold (FG) accumulates homogeneously in the cytoplasm of the RPE cells. Taurine‐depleted SD animals showed less FG accumulation in the cytoplasm in all cells and, and some cells had FG accumulation only in part of the cytoplasm or no FG accumulation at all. Untreated RCS‐p + animals showed an inverted accumulation of FG because it appeared mainly in the membrane of the RPE but not in the cytoplasm. Finally, taurine‐treated RCS‐p + animals showed FG accumulation in the cytoplasm of the RPE cells, although the accumulation of FG was smaller than that found in SD rats.

Conclusions: Taurine influences the phagocytic capacity of the RPE cells. Taurine depletion impairs the phagocytic capacity of the RPE cells in healthy retinas, and taurine supplementation improves the phagocytic function of RPE cells in dystrophic RCS‐p + rats.
Unusual genotypic and phenotypic presentation in a patient with nail‐patella syndrome
Authors: Fonoll Josep Rosinés , Coronado Saray Catalán , Milla Elena
Published: December 2022

Purpose: Nail‐Patella syndrome (NPS) is an autosomal dominant hereditary disease. It is characterized by a mutation in the gene that codes for the transcription factor LMX1B located on chromosome 9q34, essential for proper development of the musculoskeletal, renal, nervous and ocular systems. At the ophthalmological level, alterations of the anterior segment, ocular hypertension and its possible progression to glaucoma stand out.

Methods: 21‐year‐old male who presents from birth short stature, reduced muscle mass, hypoplastic patella, involvement of fingernails and toenails, and progressive kidney failure. His genetic study shows an homozygous mutation in the LMX1B gene with c.376G > A (p.Glu126Lys) variant. Ophthalmologically, there are no symptoms. On examination, visual acuity is 0.9 in both eyes. Biomicroscopy shows a wide anterior chamber, bilateral gerontoxon and the presence of frayed iris. Gonioscopy shows an open angle without alterations in its structures. The intraocular pressure (IOP) measured by Goldmann tonometer is 3 mmHg in the right eye and 4 mmHg in the left eye, which is maintained in subsequent visits. The ocular fundus reveals a physiological papilla in both eyes and no signs of glaucomatous involvement. The visual field, macular, papillary and anterior segment optical coherence tomography are compatible with normality.

Conclusions: the patient presents a typical NPS but with ocular hypotension that is not clinically significant and the mutation is homozygous. The usual ocular alterations occur in the drainage structures of the aqueous humour that cause an increase in IOP to a variable degree. Although ciliary body hypoplasia with atrophy of the ciliary processes has been described in animal models, which would produce an absence or decrease in the production of aqueous humour, no human case with ocular hypotony has been described in the current literature.
Exercise‐induced changes in optic nerve and choroidal thickness
Authors: Wylegala Adam , Orzechowska‐Wylegala Boguslawa
Published: December 2022

Purpose: The influence of physical exercise on the choroidal thickness and optic nerve has been investigated repeatedly, but the results obtained have been somewhat contradictory. This study aims to explore optic nerve (ON) and choroidal changes in healthy people after high‐intensity exercise.

Methods: Nine men and 11 females aged 25.25 ± 2.03 years underwent exercise on a cycloergometer. Measurements of heart rate, intraocular pressure (IOP), and blood pressure were taken before and after exercise. Choroidal thickness (CT) and ON prelaminar and retrolaminar dimensions were measured using high‐resolution B‐scan ultrasound (Absolu, Quantel, Cournon d'Auvergne., France).

Results: There was a significant increase in HR (74.40 ± 9.06 vs. 172.00 ± 8.35; p < 0.01), systolic (125.95 ± 9.37 vs. 153.60 ± 14.95; p < 0.01), and diastolic pressure after exercise (74.70 ± 8.77 vs. 81.60 ± 9.51; p = 0.03). At the same time, IOP decreased after the exercise (14.85 ± 1.98 vs. 13.35 ± 1.63). The diameter of the ON measured prelaminar was significantly decreased before and after the exercise (3.85 ± 0.23 to 3.75 ± 0.28 mm) p < 0.01. However, there was no significant difference in the mean CT nor retrolaminar dimensions of the ON before and after the exertion. No changes were observed in the measured parameters by B‐scan except for prelaminar ON.

Conclusions: We demonstrated no changes in CT while preliminary ON significantly changed its diameter. Our results add to the growing evidence suggesting that different blood supply can impact the changes seen after exercises.
Correlation between standard automated Perimetry, short wavelength Perimetry, and optic coherence tomography parameters in ADOA patients
Authors: Lombardo Marco , Di Marco Ernesto , Aiello Francesco , Mancino Raffaele , Nucci Carlo , Cesareo Massimo
Published: December 2022

Purpose: To assess the correlation between white‐on‐white standard automated perimetry (SAP), short‐wavelength automated perimetry (SWAP), and spectral‐domain optical coherence tomography (SD‐OCT) parameters of patients with Autosomal Dominant Optic Atrophy (ADOA) genetically confirmed by the presence of the OPA1 gene mutation.

Methods: In this observational, cross‐sectional study 25 eyes of 13 patients with a genetic diagnosis of ADOA were included. All participants performed 24‐2C SAP and 24‐2C SWAP in a randomized order. They also underwent a “Posterior Pole” and “peripapillary RNFL (pRNFL)” scanning protocol using SD‐OCT. The thickness of the ETDRS sectors of each retinal layer and pRNFL was obtained and measured. Mean deviation (MD), pattern standard deviation (PSD), and fovea sensitivity values were obtained from SAP and SWAP. Correlation analysis was performed to evaluate the association between the mean thickness of each retinal layer and visual field parameters.

Results: A moderate correlation was found between SAP MD and RPE thickness on the ETDRS grid. A moderate correlation was found between SWAP MD and whole retina, INL, ORL thicknesses on the ETDRS grid. A strong correlation was found between SWAP PSD and whole retina, GCL, IPL, INL, IRL thicknesses on the ETDRS grid. A strong correlation was also found between SWAP PSD and the temporal sector and PMB values on pRNFL. A strong correlation was found between SAP fovea sensitivity and GCL thickness on the ETDRS grid. A strong correlation was also found between SAP fovea sensitivity and the global pRNFL value.

Conclusions: Both SAP and SWAP parameters can provide relevant clinical information on retinal involvement in ADOA patients. The most important function parameters that seem to correlate better with structure involvement were PSD on SWAP and foveal sensitivity on SAP.
Initial experience of Preserflo microshunt surgery at a district general hospital in the UK
Authors: Casey Thomas Hickman , Casey Julian Hickman
Published: December 2022

Purpose: Preserflo Microshunt surgery is a new surgical procedure in the management of glaucoma. We evaluated the effectiveness and safety of Preserflo Microshunt surgery throughout the first 6 months postoperatively, by comparing intraocular pressure (IOP), number of drop agents pre and post operatively and any registered complications.

Methods: A case series of 30 patients with primary open angle glaucoma underwent Preserflo Microshunt surgery at a District General Hospital in the UK. Surgical technique included scleral application of Mitomycin C 0.4 mg/mL for 3 minutes prior to microshunt insertion. Patients had their intra ocular pressure recorded pre operatively, day 1, week 2, month 2 and after 6 months. The number of therapeutic agents in their glaucoma drops was also compared pre‐operatively and after 6 months.

Results: Mean IOP was reduced form 17.4 mmHg at baseline to 8.9 mmHg at 2 months and 11.6 mmHg at 6 months. The mean number of drug agents reduced from 2.25 to 0.07, and a total of 28 out of 30 (93.3%) remained drop free at 6 months. There were three cases where patients required needling of the bleb, two subsequently required repositioning of the shunt, and an IOP spike at day one post operatively in one case.

Conclusions: Early results for Preserflo Microshunt surgery show sustained reduction in IOP at 6 months, with the majority of patients requiring no glaucoma drops postoperatively. The surgery has been well tolerated by patients with less intense follow up compared to a traditional trabeculectomy and low complication rates.
Keratoconus and personality traits: A case–control study
Authors: Aiello Francesco , Afflitto Gabriele Gallo , Ceccarelli Francesca , Nucci Carlo
Published: December 2022

Purpose: Aim of the present study is to evaluate and characterize the presence of dysfunctional personality traits in patients affected by keratoconus (KC) as compared with unaffected control.

Methods: This is monocenter, interventional, prospective, case–control study recruiting 30 consecutive patients, aged 18–30, diagnosed with KC and age‐ and gender‐matched healthy controls. Enrolled patients underwent full ophthalmic and psychiatric evaluation. The latter consisted of the Structured Clinical Interview for DSM‐5 Disorder (SCID‐5), Symptoms Check List‐90 Revised (SCL‐90), NEO Five‐Factor Inventory (NEO‐FFI), and Temperament Evaluation Memphis, Pisa, Paris and San Diego (TEMPS‐A).

Results: Overall, 51 subjects were recruited, of whom 31 in the study and 20 in the control group. Significant differences emerged from the comparison of minimum corneal thickness (<0.0001), of keratometry (K1: p = 0.0063; K2: p < 0.0001), and of best corrected visual acuity values (p < 0.0001) between the study and the control group. Patients affected by KC demonstrated lower scores at the National Eye Institute Visual Function Questionnaire‐25 than the healthy controls (p < 0.0001). Mean scores of TEMPS‐A subscales of patients with and without KC differed significantly regarding cyclothymic (p = 0.0272), irritable (p = 0.0404) and anxious (p = 0.0155) temperament. For NEO‐FFI subscales (Table 2), patients with KC showed higher mean scores for neuroticism compared to non‐KC controls (p = 0.0077). Means scores of SCL‐90 showed no difference in all the subscales with the only exception of psychoticism (p = 0.0155). The SCID‐5 demonstrated a higher odd for patients with KC for psychiatric disorders and mood disorders (p = 0.0309), mainly of Cluster B (p = 0.0728) and Cluster C (p = 0.0359).

Conclusions: Mood disorder and dysfunctional personality traits represent common comorbidities in KC. A prompt diagnosis and an effective management are mandatory to guarantee the best standard of care to affected patients.
A novel technique of amniotic membrane suturing for ex vivo cultivated limbal epithelial stem cell expansion increases the number of progenitor cells
Authors: Bisevac Jovana , Moe Morten Carstens , Petrovski Goran , Noer Agate
Published: December 2022

Purpose: Human limbal epithelial stem cells (HLESCs) reside in limbal epithelial crypts and continuously compensate for the loss of cells in the corneal epithelium. The lack or malfunction of HLESCs leads to a severe ocular surface disease called limbal epithelial stem cell deficiency (LSCD). Cultivated limbal epithelial stem cell transplantation (CLET) of expanded autologous limbal tissue on a human amniotic membrane (HAM) carrier is one of the most common methods for monocular LSCD. We hereby present a novel suturing technique of HAM prior to limbal biopsy expansion and cultivation that mimics natural limbal crypts.

Methods: HLESCs derived from limbal biopsies were cultured ex vivo in complex media (COM) on flat or crypt‐like sutured HAMs for 3 weeks. The samples were then processed for immunohistochemistry (IHC) and analysed for progenitor markers: p63α and SOX9; markers for quiescence: CEBPD; proliferation: Ki‐67; differentiation: CX43 and CK3/12; transmembrane markers: E‐cadherin and N‐cadherin. The positivity of markers was counted and compared in cells cultivated on flat vs. crypt‐like sutured HAMs.

Results: HLESCs cultured on folded, crypt‐like sutured HAMs had significantly more positivity for p63α, SOX9 (progenitor markers) and Ki‐67 (proliferation marker) compared to those cultured on flat HAMs. Fewer cells were positive for CK3/12 (differentiation marker) in cultures on folded compared to flat HAMs. The number of cells positive for CEBPD (quiescence marker), CX43 and E‐cadherin (differentiation markers) were equal in both groups (flat vs. folded HAMs).

Conclusions: A novel technique of HAM suturing that forms crypt‐like undulations mimicking limbal epithelial crypts increases the number of early progenitor cells and could hence increase the quality of the ex vivo expanded limbal epithelial tissue and success for transplantation.
The incidence of complications related to the corneal graft in the group of 758 patients
Authors: Szkodny Dominika , Wróblewska‐Czajka Ewa , Wylegala Adam , Wylegala Edward
Published: December 2022

Purpose: The aim of this study was to assess the frequency of complications regarding corneal graft and a comparison of their occurrence depending on the diagnosis and other risk factors in single center in Poland.

Methods: Retrospective analysis of the hospital records of patients who underwent penetrating keratoplasty between January 2016 and December 2020 at the Department of Ophthalmology of District Railway Hospital, Katowice Poland.

Results: The most common complication was late endothelial failure (7.92%), then perforation (4.1%), bacterial keratitis (3.23%), non‐infectious corneal melting (2.2%), graft rejection (1.9%), epithelialization disorders (1.47%), endophthalmitis (0.88%), herpetic keratitis (0.73%), wound dehiscence, fungal keratitis, primary disease recurrence, post‐herpetic melting and infectious melting (0.15%). Patients with acanthamoeba (0%), herpetic (12.5%), fungal keratitis (30.8%) and perforation (35.2%) turned out to have the lowest success rate. Patients from the high‐risk group were 4.65 times more likely to develop complications than the low‐risk group. Multivariate regression analysis revealed three variables to be significant factors: high‐risk group (OR:4,12, CI: 2.59–6.55, p = 0.00), concomitant ophthalmic diseases (OR: 3.12, CI: 1.60–6.08, p = 0.00), connective tissue diseases (OR: 7.76, CI: 2.40–25.05, p = 0.00).

Conclusions: Chronic loss of the endothelium after penetrating keratoplasty is one of the main reasons for graft failure. The occurrence of complications is most dependent on the indication for transplantation and, despite the passage of years, remains a major challenge in the treatment.
Primary open‐angle glaucoma prevalence in Europe: A systematic review and meta‐analysis
Authors: Ceccarelli Francesca , Afflitto Gabriele Gallo , Aiello Francesco , Cesareo Massimo , Nucci Carlo
Published: December 2022

Purpose: This study aimed to evaluate the prevalence of primary open‐angle glaucoma (POAG) in the European population > 40 years, and to provide the expected number of POAG patients forecasted up to 2050.

Methods: Two authors independently conducted a systematic literature search on PubMed/MedLine, Web of Science, and Google Scholar to identify papers analysing the prevalence of POAG in European countries. Logit transformation (PLOGIT) of the data retrieved from selected articles, and a random intercept logistic regression model (GLMM) were used to analyse the overall proportions. The population projection data retrieved from the World Population Prospects reported by the United Nations, was incorporated into the GLMM. The estimated number of patients was calculated using the prevalence figures from the random‐effects model and the corresponding population number.

Results: We retrieved 9348 eligible papers from the initial electronic search and included 10 of them in the qualitative and quantitative analyses. A total of 26 993 patients were included in this meta‐analysis (11 927 male and 14 556 female). We identified 755 POAG cases (397 male and 348 female), with a pooled prevalence estimate in Europe of 2.60% (95% CI: 1.90–3.56%). Increasing odds for POAG were related to increasing age and some geographic differences in the disease distribution in the continent were identified. Statistically significant sex‐related differences in the prevalence rate of POAG were not observed in this cohort. An increase of 3.3% in the number of people (aged >40 years) with POAG is expected by 2050, when the overall figure is expected to be 10 748 137.

Conclusions: POAG is a neurodegenerative disease that affects a large proportion of the older European population. In the future, the prevalence of POAG is expected to grow in Europe because of the progressive ageing populations of Western countries.
Eight years follow‐up of two choroideremia patients with a new mutation of the choroideremia gene
Authors: Díaz‐Barreda Mª. Dolores , Boned‐Murillo Ana , Bartolome Isabel , Hospital Elvira Orduna , Fernández‐Espinosa Guisela , Sopeña María , Pinilla Isabel
Published: December 2022

Purpose: Choroideremia (CHM) is an inherited retinal dystrophy with an X‐linked inherited patron. It presents changes in the outer retina and choroid. CHM has a typical fundus appearance with preservation of the central retina, that progresses over the years. Fundus autofluorescence (FAF) shows the changes in the pigment distribution not only in patients but also in carriers. We present an 8‐year follow‐up of two boys affected by the disease.

Methods: We studied a family with two cousins referring visual loss and nyctalopia and presented clinical findings of CHM at 11 and 10 years old. Their mothers referred that their deceased father had an important loss of visual acuity (VA) and that he had been diagnosed of Retinitis Pigmentosa. They were diagnosed of CHM with an undescribed mutation in the CHM gene c.1083_1084dupT (p.L362Sfs*56) at the Xp21.2 location. We present the patients and the carriers follow‐up.

Results: During 8 years one of the patients had a progressive loss of VA. He presented a high myopic refraction and retinal changes that could be related to both conditions. His macular function decreased during the years with loss of retinal sensitivity evaluated by MAIA microperimetry, with Multifocal ERG showing a marked diminution on the central peak. His cousin has not presented important changes during the follow‐up time, preserving macular sensitivity and central visual field. Both mothers show a different AF pattern, with one geographic pattern and another sparse mottled on periphery. Carriers have not changed during these 8 years, neither in their retinal function nor in the anatomical findings.

Conclusions: Evolution in CHM disease could differ in patients affected by the same mutation. Myopic defect may increase the retinal damage, with a more aggressive evolution.
AMD drusenoid deposits “L”, lipid type, AMD atrophy complication Lipidomics profile: Characteristics, links‐correlations
Authors: Gonzalez Corinne
Published: December 2022

Purpose: To study AMD drusenoid deposits “L”, their density, structure, volume characteristics by morphology‐structural software, their evolution, mostly to atrophy, and lipidomic profile of AMD Atrophy complication to enhance correlations‐links in between.

Methods: 154 eyes of 84 patients with AMD drusenoid deposits “L”, Lipid Type(soft Drusen, Drusenoid PED “L”).Deposits were evaluated by OCT(Spectralis HRA‐OCT),Morphology‐Structural software(M‐S software)to let drusenoid deposit contents analyse, grading (volume, contours), measurements: density, structure, volume. 30 AMD Atrophy complication patients' Lipidomic Study: Blood tests, all lipids qualitative, quantitative analysis: neutral lipid by GC, fatty acid too but after BF3 methanol derivation, phospholipids by LC–MS directly, as sphingolipids but firstly hydrolysed, polyinsatured fatty acids metabolites by preparation before LC–MS.

Results: AMD Drusenoid Deposits “L” characteristics: OCT/OCT en Face: dark grey, optical empty, fatty, equal and the same in all cross‐section; M‐S software: Density: Low, decreasing during evolution, Structure: increasing during evolution, bell‐shaped curve with increase curve peak; Volume: quite disappearing; so mostly evolution to Atrophy. Atrophy complication Lipidomics profile: medium level Free Cholesterol, low Oxysterols, low Phospholipids(Phosphatidyl Cholines), low total neutral lipids(MUFA/PUFA), high Sphingosins. AMD Drusenoid Deposits “L” characterization (OCT), contents knowledge (M‐S software),evolution mostly to Atrophy(OCT, M‐S Software),AMD Atrophy complication Lipidomics Profile let enhance correlations between lipid quality drusenoid contents and lipid metabolism, so better physiopathology understanding, therapeutic perspectives.

Conclusions: Enhancing links‐correlations between aspect, Morphology‐Structural characteristics, evolution of Drusenoid deposits “L” and Lipidomics profile of Atrophy complication let AMD physiopathology, etiopathogenesis understanding, hypothesis formulations, therapeutics perspectives.

References.

1. Gonzalez C. Age macular degeneration: relevance and interest of lipidomic study for screening, follow‐up and etiopathogeny of AMD. ARVO 2016.