bluuebunny/crossref_metadata_2025_split huggingface dataset:
Dopamine and motion perception: Unveiling retinal connections in Parkinson's disease
Authors: Paleo Víctor , Bellón Sofía , Moratalla Rosario , De La Villa Pedro , Alcacer Cristina 
Published: January 2024

Aims/Purpose: Parkinson's disease (PD) is characterized by degeneration of dopaminergic neurons, which occurs not only in the pars compacta of the sustantia nigra of the midbrain, but also in the retina, where dopaminergic amacrine cells (DAC) have been well characterized. Indeed, parkinsonian patients display visual impairments in early stages of the disease, including motion perception deterioration. Retinal cells responsible of motion perception are the directional selective ganglion cells (DSGC) which receive inhibitory synapses from starburst amacrine cells (SAC). Consequences of DAC degeneration in PD on the functionality of SAC and DSGC is unknown. In this work, we studied the functional connections between DAC and SAC in order to understand the pathophysiological mechanisms that determine the visual dysfunction in PD patients.Methods: Using immunohistochemistry and confocal imaging, we studied the retinal connections between DAC and SAC in wild‐type mice. To determine the type of Dopamine (DA) receptor expressed by SAC, we used transgenic mice whose cells expressing D1 or D2 receptors also express fluorescent markers. Intravitreal injections of 6‐OHDA were performed in a series of animals, followed by immunohistochemistry and optokinetic test.Results: We observed that DAC and SAC have direct synaptic contacts, and that the SAC located in the OFF sublamina of the inner plexiform layer express D2 receptors (D2R) but not D1 receptors. Moreover, depletion of DA in the 6‐OHDA injected mice induced a significant reduction of motion perception.Conclusions: This study shows for the first time in mice that the amacrine retinal cells responsible for perceiving directional selective moving stimuli express D2R. These findings provide new ways of detecting visual impairments in preclinical models of retinal DA degeneration.
Localised loss of sheen in Optos pseudocolour images in Oguchi disease following prior short wavelength autofluorescence imaging
Authors: Akhtar Haseeb , Nicholson Luke , Ockrim Zoe , Neveu Magella , Webster Andrew R. , Michaelides Michel , Mahroo Omar 
Published: January 2024

Aims/Purpose: Oguchi disease is characterized by night blindness and a striking golden retinal sheen in the light‐adapted state which disappears following prolonged dark adaptation (Mizuo‐Nakamura phenomenon). The sheen is observable clinically and on colour and pseudocolour (Optos plc) imaging. We observed a localized loss of sheen in a patient on colour/pseudocolour imaging in an area corresponding to the 30 degree square illuminated by short wavelength (488 nm) autofluorescence (AF) imaging (Heidelberg Spectralis). We explored whether other cases showed this phenomenon.Methods: Patients in our service with Oguchi disease (diagnosed phenotypically and/or with genetic confirmation) who had undergone colour or pseudocolour imaging were identified. In these patients, note was made of whether prior 30 degree short wavelength autofluorescence images had been undertaken and whether a localized square‐shaped loss of sheen was observed.Results: We identified 13 patients who had undergone colour or pseudocolour imaging. Of these, 4 patients (2 males, 2 females) had undergone prior 30 degree (and not 55 degree) short wavelength AF imaging at the same visit (ages ranging from 12 to 67). In 2 patients (a 12 year old, with variants in GRK1, and a 67 year old, not yet genotyped), a clear central square in which the sheen was absent was observed in the colour or pseudocolour images.Conclusions: The phenomenon of disappearance of the sheen in Oguchi disease following prolonged darkness is well‐described. Paradoxically, we observed loss of the sheen in 2 patients in a defined area corresponding to the field of illumination by bright blue light in 30 degree AF imaging. The blue light is preferentially absorbed by rhodopsin, which becomes bleached. It is possible that the sheen (at least in some patients) is dependent on there being a large proportion of unbleached rhodopsin as well as deficient shut‐off of activated rhodopsin.
Vogt‐Koyanagi‐Harada‐like findings as the first manifestation of neuroleukaemia
Authors: García Laura Fernández , Fustel Paula Boned , Sánchez Anselmo Feliciano , Gil Romana García 
Published: January 2024

Aims/Purpose: To report a well‐documented case of a 62‐year‐old woman presenting with VKH‐like findings as the first manifestation of neuroleukaemia.Methods: Case study.Results: A 52‐year‐old woman who had received a diagnosis of acute myeloid monoblastic leukaemia (AML) one month prior and was in remission after the induction phase presented with floaters and gradual visual loss in both eyes. Visual acuity was 20/200 and 20/25, respectively. Anterior segment exam was normal in both eyes. Funduscopy showed reduced foveal reflex. On spectral‐domain OCT, subretinal fluid was found in both eyes. Fluorescein angiography showed hypofluorescent areas compatible with multifocal serous retinal detachments and multiple hyperfluorescent dots surrounding the detached areas. Days after, the patient debuted with facial palsy and binocular diplopia due to bilateral VI cranial nerve (CN) palsy, left VII CN palsy and right complete III CN palsy. An MRI was performed with no signs of infiltration. A cerebrospinal fluid sample was drawn by lumbar puncture and its analysis denoted infiltration of AML cells with similar immunophenotype to that on initial bone marrow biopsy. Our patient presented with an atypical case of Vogt‐Koyanagi‐Harada (VKH) with multiple leakages along the periphery of the detached retinal area. This sparing of the macula should be considered a suspicious pattern, and combined with the finding of CN palsies was enough to suspect a relapse in the form of CSF infiltration, making the diagnosis of neuroleukaemia possible.Conclusions: Exudative retinal detachment can be a primary presentation of AML or denote a relapse. VKH is a diagnosis of exclusion, as one of the main criteria for its diagnosis is the absence of other systemic diseases. This becomes especially important in atypical presentations and older patients. So as not to miss life‐threatening underlying conditions, leukaemia and lymphoma should be considered in the differential diagnosis of VKH.References1. Hassanpoor N, Niyousha MR. Acute Lymphoblastic Leukemia Presenting as Acute Vogt‐Koyanagi‐Harada Syndrome.2. AlZamil WM. Lymphocytic leukemia presenting as acute Vogt‐Koyanagi‐Harada disease.3. Chinta S, Rani PK, Manusani U. Bilateral exudative retinal detachment as a presenting sign of acute lymphoblastic leukemia.
The role of fluorescein angiography in incontinentia pigmenti: A case report
Authors: Monteiro Catarina , da Costa Tomás Reis , Dias Maria Teixeira , Almeida Júlio , Mota Mafalda , Pires Graça , Teixeira Susana , Prieto Isabel 
Published: January 2024

Aims/Purpose: To present the angiographic findings in a case of a 6‐year‐old girl with incontinentia pigmenti.Methods: We describe the case of a 6‐year‐old girl with a known diagnosis of incontinentia pigmenti that presented with retinal vascular changes in a routine ophthalmologic evaluation. Fundoscopic examination revealed a peripheral avascular area with adjacent vascular proliferation. In order to better evaluate these findings, a fluorescein angiography was performed.Results: Angiography findings included abnormal vascular loops, capillary nonperfusion areas and vascular anastomoses. There were also leakage areas (corresponding to active neovascularization) and areas of staining (due to fibrosis). Laser photocoagulation of the peripheral avascular area was done.Conclusions: Incontinentia pigmenti often presents with neovascularization and other vascular changes that are more pronounced in the retinal periphery. Therefore, fluorescein angiography is very valuable in the documentation and study of vascular lesions associated with this condition.
Cultural differences in perceived social support in patients with retinal diseases
Authors: Nilsson Ida , Moreno Laura Hernández , Baskaran Karthikeyan , Mohlin Camilla , Senra Hugo , Macedo Antonio Filipe 
Published: January 2024

Aims/Purpose: To compare the perceived social support in patients with retinal diseases living in Sweden or in Portugal.Methods: Participants from Sweden were patients diagnosed with neovascular age‐related macular degeneration (nAMD). Participants from Portugal were patients diagnosed with AMD or diabetic retinopathy. Participants completed the Swedish or Portuguese version of the Multidimensional Perceived Social Support (MSPSS) scale. Visual acuity was measured using an ETDRS scale.Results: The final sample was formed of 269 patients comprising two groups, one group with 198 from Sweden and a second group with 71 from Portugal. The median age was 77 years (IQR = 11) and the median visual acuity was 0.22 logMAR (IQR = 0.44). There was no statistically significant difference in age nor in acuity between the groups. The Swedish group had higher proportion of women (67%) compared to the Portuguese (52%). For the MSPSS there was a higher median score of 6.08 (IQR = 1.60) in the Swedish group compared with the median of 5.33 (IQR = 0.75) in the Portuguese group (p < 0.001). The Swedish group reported higher scores in the family (p < 0.001) and significant other (p < 0.001) subscales compared to the Portuguese.Conclusions: Patients with retinal diseases from Sweden perceived better social support than patients from Portugal. Better perceived social support is expected to improve coping and adherence to treatments among patients with eye diseases. This aspect seems open for improvement in the Portuguese group.References1. Hernández‐Moreno L, et al. Is perceived social support more important than visual acuity for clinical depression and anxiety in patients with age‐related macular degeneration and diabetic retinopathy? Clin Rehabil 2021 Sep; 35(9): 1341–1347.2. Okada M, et al. Nonadherence or Nonpersistence to Intravitreal Injection Therapy for Neovascular Age‐Related Macular Degeneration: A Mixed‐Methods Systematic Review. Ophthalmology 2021 Feb; 128(2): 234–247.
Four years follow‐up OCTA changes in long‐term type 1 diabetic patients without diabetic retinopathy
Authors: Sopeña‐Pinilla Maria , Fernández‐Espinosa Guisela , Álvarez Marta Arias , Alonso Sofia Bielsa , Hospital Elvira Orduna , Tomas‐Grasa Cristina , Boned‐Murillo Ana , Díaz‐Barreda Mª Dolores , Acha Javier , Pinilla Isabel 
Published: January 2024

Aims/Purpose: To assess changes in retinal capillary plexuses and choriocapillaris over 4 years' time in long‐term Type 1 diabetic patients (DM1) without diabetic retinopathy (DR).Methods: Twenty‐four eyes of 24 long‐term DM1 patients with no DR lesions were examined by optical coherence tomography angiography (OCTA) over a 4 year follow‐up period. Vascular density (VD) of both superficial and deep retinal capillary plexuses (SCP, DCP) and choriocapillaris (CC) were compared, as well as foveal avascular zone (FAZ) area and diameters.Results: Mean age was 46.84 ± 11.28 years and the average DM1 evolution time was 28.88 ± 8.04 years. Mean HbA1c level was 7.34 ± 0.94% at the last examination. SCP showed a statistically significant increase in VD in all areas except the inferior quadrant. There were no changes in the area or diameters of the FAZ in the SCP. In the DCP, there was a significant increase in VD in the temporal quadrant and a decrease in the inferior quadrant, along with a decrease in the horizontal diameter of the FAZ. The nasal area of the CC showed a significant increase in VD.Conclusions: DM1 patients present changes in the inner retina microvascularization after a follow‐up period of 4 years before displaying any signs of DR, mainly an increase in VD the SCP of the retina, along with a decrease in VD in the inferior quadrant of the DCP.
Optical coherence tomography angiography of the foveal avascular zone after successful macula‐off rhegmatogenous retinal detachment repair
Authors: Mahjoub Anis , Abroug Nesrine , Rahma Chaabene , Arij Jouini , Wijdene Nabi , Khairallah Moncef 
Published: January 2024

Aims/Purpose: To investigate the size and shape of the foveal avascular zone (FAZ) after successful macula‐off rhegmatogenous retinal detachment (RRD) repair using swept source OCT angiography (SS OCTA).Methods: A prospective comparative cross‐sectional study including 21 eyes of 21 patients with macula‐off RRD that were successfully repaired. The size of the superficial FAZ was assessed by its area, length of perimeter, and Feret's diameter, and the shape by the circularity, axial ratio, roundness and solidity. The correlations between each parameter and the clinical and OCT findings were statistically determined. The unaffected fellow eyes were used as controls.Results: The mean initial BCVA was 1.92 ± 0.41 Log MAR (20/2000 Snellen's equivalent). The mean BCVA at OCTA acquisition (3 months) was 0.78 ± 0.39 Log MAR (20/100 Snellen's equivalent) (p < 0.001). FAZ was significantly larger (323.09 ± 129.03 μm2 vs. 245.27 ± 93.15 μm2; p = 0.038), with longer perimeter (2.31 ± 0.35 mm vs. 2.07 ± 0.31 mm; p = 0.048), and irregular shaped (mean circularity: 0.73 ± 0.72 vs. 0.78 ± 0.5; p = 0.019 and mean solidity: 0.90 ± 0.02 vs. 0.93 ± 0.02; p = 0.002) in operated eyes than in the control group. The average Feret's diameter was 0.77 ± 0.10 mm versus 0.71 ± 0.88 mm (p = 0.076). The average axial ratio was 1.25 ± 0.20 versus 1.22 ± 0.22 (p = 0.531), and the average roundness was 0.81 ± 0.11 versus 0.83 ± 0.11 (p = 0.531). Mean central foveal thickness (CFT) was significantly lower in operated eyes than in control eyes (178.23 ± 40.59 μm vs. 247.44 ± 38.2 μm (p < 0.001)). There was a significant inverse correlation between FAZ area and post‐operative outer nuclear layer thickness (r = −0.520, p = 0.016) and CFT (r = −0.571, p = 0.007) in operated eyes. There was no significant correlation between the post‐operative visual acuity and FAZ parameters.Conclusions: Enlargement and irregularities of FAZ after successful macula‐off RRD repair, as demonstrated by SS OCTA, might suggest an ischaemic macular damage caused by RRD that may affect post‐operative functional outcome.
Clinical‐grade hPSC‐derived RPE grafts for the treatment of age‐related macular degeneration
Authors: Reyes Alvaro Plaza , Sánchez Lourdes Valdés , Mesa Rocio , Moshtaghion Mehdi , Infantes Estefania Caballano , Garcia‐Delgado Ana Belen , Arribas Blanca , Muñoz Beatriz Fernandez , Tsurkan Mikhail , Sanchez‐Pernaute Rosario , de la Cerda Berta , Diaz‐Corrales Francisco 
Published: January 2024

Aims/Purpose: Age‐related Macular Degeneration (AMD), a prevalent global cause of vision loss in the elderly, necessitates the development of efficacious treatments. Existing therapies do not cure AMD due to its complexity and the irreversible loss of photoreceptors and Retinal Pigment Epithelium (RPE). Cell replacement therapies targeting faulty RPE cells offer potential for slowing AMD progression, but the immunocompatibility of such therapies is challenging. We aim to develop a cell therapy strategy to minimize immune rejection.Methods: Our strategy entailed establishing a Good Manufacturing Practice (GMP)‐compatible induced Pluripotent Stem Cell (iPSC) cell bank representing the most frequent homozygous human leukocyte antigen (HLA) haplotypes in the Andalusian population, facilitating derivation of immunocompatible RPE cells. We utilized and refined existing RPE differentiation protocols for generating clinically compliant RPE cells. Furthermore, we tested three bioscaffolds for RPE growth and maturation and compared the physical properties of the resulting RPE cell‐bioscaffold biopatch for transplantability.Results: We successfully established three GMP‐compatible iPSC lines featuring common homozygous HLA profiles. Through our refined differentiation protocols, these iPSCs were converted into functional, high‐purity and safe RPE cells. Comparative analysis of different bioscaffolds revealed variable capabilities for RPE growth, maturation and transplantability, thereby informing the final bioscaffold selection for RPE biopatch generation.Conclusions: Our study underscores the feasibility of generating clinical‐grade, immunocompatible iPSC‐derived RPE grafts using GMP‐compliant procedures for AMD treatment. This innovative approach addresses a critical unmet medical need and suggests potential for similar strategies in other cell replacement therapies. The selection of an optimal bioscaffold for RPE growth and maturation is critical for effective RPE biopatch development. Further pre‐clinical and clinical studies are required to evaluate the safety and efficacy of these RPE grafts in AMD treatment.
OCT angiography findings in posterior persistent fetal vasculature
Authors: Hachicha Ines , Braham Imene Zhioua , Slim Haddar , Manel Mokrani , Ilhem Mili , Raja Gmar Zhioua 
Published: January 2024

Aims/Purpose: To report optical coherence tomography angiography findings in a patient presenting unilateral posterior persistent fetal vasculature (PVF).Methods: We report the case of a 19‐year‐old female patient with longstanding visual impairment of the left eye (LE). Patient was assessed with multimodal imaging including color fundus photography, swept source optical coherence tomography (SS‐OCT) and SS‐OCT angiography (SS‐OCTA) of the macula and the optic disc.Results: The patient had a history of unilateral visual impairment of unknown aetiology and consulted for a routine examination. Best corrected visual acuity was 10/10 in the right eye (RE) and limited to counting fingers in the LE. Ophthalmological examination of the LE revealed a mild exophoria, a quiet anterior segment, a vestigial capsular bag and an inferonasal whitish spot at the posterior lens capsule corresponding to Mittendorf's dot. Dilated fundus examination of the LE showed a lack of foveal reflex, retinal vessel contraction associated to the presence of a fibrovascular stalk extending from the OD to the crystalline lens via the vitreous humour, corresponding to fibrovascular contraction of the persistent and hyperplastic Cloquet's canal. No associated retinal detachment was noted. The clinical diagnosis of posterior PVF was confirmed. Macular SS‐OCT revealed retinal thinning with absence of foveal pit. Optic disc SS‐OCT highlighted a hyporeflective tubular structure overlying a Bergmeister'papilla. Cross‐sectional SS‐OCTA detected a flow signal at the level of Bergmeister's papilla, but no confirmed flow signal was identified at the level of the fibrovascular stalk.Conclusions: PVF is a rare condition characterized by fetal remnant from developmental vascular system defects, clinically recognized in its three forms (anterior, posterior and combined). OCT‐angiography is a useful non‐invasive tool to confirm of persistent hyaloid artery patency and assess risk of vascular complications. Contraction of the fibrovascular mass is prone to tractional retinal detachment and repeated episodes of intravitreal or intracapsular haemorrhage. Monitoring is therefore recommended even in adulthood.
Correlations between optic nerve OCT and macular functional alterations in patients who undergone successful RRD surgery
Authors: Díaz‐Barreda Mª Dolores , Boned‐Murillo Ana , Hospital Elvira Orduna , Fernández‐Espinosa Guisela , Álvarez Marta Arias , Sopña‐Pinilla Maria , Pinilla Isabel 
Published: January 2024

Purpose: The aim is to study the correlation between macular function measured by macular integrity assessment (MAIA) microperimetry and optic nerve (ON) evaluated by ON optical coherence tomography (OCT) in patients undergoing surgery after RRD.Methods: Cross‐sectional unicentric study including 64 eyes with RRD surgically treated compared with 136 healthy eyes. All underwent an ophthalmological examination including MAIA and ON OCT according to the total retina (TR) protocol and the retinal nerve fibre layer (RNFL) protocol.Results: Significant decrease in sensitivity and Macular Average Threshold were achieved in RRD group while macular integrity was higher. Temporal (T) sector of the TR protocol and superior (S) and inferior (I) sectors of the RNFL protocol showed greater thickness in the RRD group. Positive correlations were achieved between S sector of the OCT in both protocols and fixation stability P1; nasal (N) sector in the TR protocol and MAIA inferior outer (IO) sector; I sector in the TR protocol and MAIA IO and inferior inner (II) sectors while in the RNFL protocol with MAIA IO sector; T sector in the TR protocol and Macular Average Threshold; C (central) sector in the TR protocol and MAIA IO and II sectors. Negative correlations were showed between S sector in the RNFL protocol and MAIA C sector while in the TR protocol with BCEA 63% area; N sector in the RNFL protocol and MAIA central nasal (CN) sector; I sector in the RNFL protocol and MAIA IO sector and Macular Integrity; T sector in the RNFL protocol and MAIA C sector while in the TR protocol with BCEA 63% and 95% angles; C sector in the RNFL protocol and MAIA C and CN sectors.Conclusions: RRD causes loss of macular sensitivity together with anatomical changes in the ON. Inferior sectors of MAIA showed more correlations with the OCT TR protocol while C sectors correlated with the RNFL protocol.
Real‐world experience with brolucizumab in pro re nata regimen in patients with neovascular age‐related macular degeneration previously treated with ranibizumab and aflibercept and without control of subretinal fluid
Authors: Di Lauro Salvatore , Millas Sara Crespo , LeaL Lucia Manzanas , Galvez Maria Isabel Lopez , Galarreta‐Mira David 
Published: January 2024

Aims/Purpose: to report real‐world outcomes in patients with neovascular age‐related macular degeneration (AMD) previously treated with ranibizumab and/or aflibercept and without control of subretinal fluid (SRF) receiving switch treatment to Brolucizumab in Pro Re Nata (PRN) regimen.Methods: Retrospective study including 11 patients with neovascular AMD previously treated with ranibizumab and/or aflibercept and without control of SRF were included. They received intravitreal treatment with standard 6‐mg intravitreal injections of brolucizumab between April 2022 and March 2023 in PRN regimen.Results: The mean follow‐up after the first injection of brolucizumab was 7.25 months (SD 2.18). The mean number of injections per month (IPM) of ranibizumab and/or aflibercept previous to switch treatment to brolucizumab was 0.81 with standard deviation (SD) of 9.81. The mean number of IPM after starting the treatment with brolucizumab was 0.49 (SD: 0.95). Therefore, the amount of IPM was significatively lower when switching to brolucizumab (p‐value = 0.0003). SRF control was achieved in 9/11 of patients (81.82%). The mean VA increased from was 0.59/1 (SD 0.273) before switch to brolucizumab to 0.64/1 (SD 0.253) (p > 0.05). No cases of intraocular inflammation were described.Conclusions: Brolucizumab in PRN regimen was effective in achieving SRF control in patients with neovascular AMD previously treated with ranibizumab and aflibercept and without control of SRF. Furthermore, the amount of IPM was significatively lower when switching to brolucizumab compared to ranibizumab and/or aflibercept.