bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hereditary Multiple Exostoses with Rare Ocular Finding: A Case Report
Authors: Tanwar Shashi , Saini Nishtha , Boriwal Krutika , Sharma Prashant 
Published: September 2024

AbstractPurpose:To study rare ocular findings in a rare case of hereditary multiple exostoses (HME) and to study HME in one family.Methods:HME is an autosomal dominant genetic disease characterized by the presence of multiple exostoses (osteochondromas). It is caused by mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). We report HME in a family over three generations. The index case was a 14-year-old female who presented with an ocular mass and multiple hard nodules in the upper and lower limbs. Family history revealed similar multiple nodules in the younger brother, father, and grandfather. Hence, the paternal family history for HME is positive. All the family members were examined. Family members who were diagnosed with HME had a series of radiology tests completed. Furthermore, the family members with HME were also seen by an orthopedic surgeon.Results:Family history and physical examination revealed multiple exostoses in the younger brother, father, and grandfather. They were all diagnosed with HME. The index case also had an ocular surface mass with scleral ectasia in the right eye.Conclusion:HME is a rare, genetic disorder. Cases of HME with ocular findings are rare. This patient has a paternal family history of HME and presents with an ocular surface mass.
Evaluating Reading Performance in Different Preferred Retinal Loci in Persian-Speaking Patients with Age-Related Macular Degeneration
Authors: Farzaneh Abdollah , Riazi Abbas , Falavarjani Khalil Ghasemi , Doostdar Asgar , Kamali Mohammad , Sedaghat Ahad , Khabazkhoob Mehdi 
Published: September 2024

Purpose:To evaluate reading performance in different preferred retinal loci (PRLs) using a Persian version of a Minnesota Low Vision Reading (MNREAD) chart in Persian-speaking patients with age-related macular degeneration (AMD).Methods:In this cross-sectional study, 35 patients with AMD were assessed. The reading performance was investigated by the MNREAD chart without using low vision aids. The location of PRL was determined monocularly using an MP1 microperimeter (Nidek Technologies, Padua, Italy). The anatomical location of the fovea was determined using optical coherence tomography (OCT). Images were taken with the MP1 microperimeter, and Spectralis HRA-OCT device was processed using graphic software to determine the location of the PRL on the retina.Results:Thirty-five patients (51 eyes) with a mean age of 73.8 ± 7.7 years (range, 54–88 years) were assessed. Mean best corrected distance visual acuity (logMAR) was 0.65 ± 0.35 (range, 0.2–1.3). Mean levels of reading acuity (RA) (P= 0.009) and critical print size (CPS) (P= 0.015) were significantly different in different locations of PRL. Average scores of maximum reading speed (MRS) (P= 0.058) and reading accessibility index (ACC) (P= 0.058) were not statistically significant in different locations of PRL. There was a positive correlation between PRL-fovea distance and RA (P< 0.001,r= 0.591) and CPS (P< 0.001,r= 0.614). Significant negative correlations were observed between PRL-fovea distance and MRS (P< 0.001,r= −0.519) and ACC (P< 0.001,r= −0.545).Conclusions:This study provides evidence for differences in the reading performance of Persian-speaking patients with AMD in different PRL locations. The average scores of all reading indices obtained in the right-field PRL are lower than those in other areas and are highly correlated with the PRL-fovea distance.
Non-Neovascular Pachychoroid Disease Mimicking Exudative Age-Related Macular Degeneration
Authors: Kaseewat Thachpacha , Phasukkijwatana Nopasak 
Published: September 2024

Purpose:
To describe a case of pachychoroid disease most compatible with central serous chorioretinopathy (CSC) presented with a large relapsing retinal pigment epithelial detachment (PED) associated with only a small amount of subretinal fluid (SRF) in the background of macular drusen in an elderly patient mimicking neovascular age-related macular degeneration (AMD).

Methods:
This was a review of 32 months of the clinical course and findings on multimodal imaging including fundus photography, optical coherence tomography, fundus fluorescein angiography (FFA), indocyanine green angiography (ICGA), and optical coherence tomography angiography (OCTA).

Results:
A large relapsing PED sometimes with small amount of SRF at its apex was found in the background of macular drusen in the right eye of a 63-year-old Thai woman. The relapses of the PED showed an apparent association with recent steroid exposure. Multimodal imaging demonstrated the characteristics of pachychoroid diseases with pachyvessels and choroidal hyperpermeability. The PED and SRF responded well to anti-vascular endothelial growth factor (anti-VEGF) therapy, especially aflibercept, but could also be spontaneously resolved without anti-VEGF. No evidence of choroidal neovascularization or polyps could be identified by serial FFA, ICGA, and OCTA even when the retinal pigment epithelium was completely flat with no obscuration by PED.

Conclusions:
A large PED with little SRF could present signs of CSC. This clinical presentation could be confused with neovascular AMD, and multimodal retinal imaging was crucial to guide correct diagnosis and management.
Electrophysiological and Visual Parameter Changes in Retinitis Pigmentosa Patients undergoing Autologous Platelet-Rich Plasma Therapy: A Randomized Control Trial
Authors: Khan Perwez , Khan Lubna , Kiran Kumari Kanchan 
Published: September 2024

Purpose:
To assess the efficacy of autologous platelet-rich plasma (PRP) injections in suprachoroidal space and subtenon space in cases of retinitis pigmentosa, which is a genetic disease, leading to gradual loss of vision. Till date, no treatment is available.

Methods:
Seventy-eight eyes of 39 patients of retinitis pigmentosa having visual acuity ranging from reading of Early Treatment Diabetic Retinopathy Study (ETDRS) chart from 1 m onward to patients who were not able to read the ETDRS chart but whose visual acuity ranged from finger count close to face to <1 m were included in the study. The left and right eyes of each patient were randomized as the intervention eye and control eye. 0.2 mL of autologous PRP was injected in suprachoroidal space and 0.5 mL of PRP was injected in subtenon space of the intervention eye taking aseptic precautions. Injections were repeated at 15-day intervals up to 3 injections.

Results:
Majority of patients were in the age group of 18–30 years (20 cases) followed by 31–45 years (13 cases) and more than 45 years (6 cases). Intervention eyes showed a statistically significant improvement in visual acuity and multifocal electroretinography (mfERG). Improvement was noted in amplitude density latency and in ring ratio of mfERG. There was a significant improvement in best-corrected visual acuity (BCVA). However, no improvement in mfERG or BCVA was observed in the control group.

Conclusions:
Gene therapy may be the ultimate cure for retinitis pigmentosa, but it is unaffordable for many patients due to its high cost. PRP may be recognized as a modality to improve vision and stop further deterioration, especially in cases where functional vision is preserved. Negligible treatment costs and affordability will give power to economically disadvantaged patients.
Association of the Pattern of Retinal Capillary Non-Perfusion and Vascular Leakage with Retinal Neovascularization in Proliferative Diabetic Retinopathy
Authors: Jung Eric E , Lin Michelle , Ryu Christine , Moysidis Stavros N , Burkemper Bruce , Murgai Rajan , Arbabi Amirmohsen , Ameri Hossein 
Published: September 2024

Purpose:
To explore the correlation between retinal capillary non-perfusion and the distribution of retinal neovascularization and vascular leakage (VL) in patients with proliferative diabetic retinopathy (PDR).

Methods:
Ultra-widefield angiograms of 96 eyes of 69 patients with PDR were reviewed for the proportion of non-perfused area to total gradable area, and for the presence of neovascularization and VL.

Results:
Retinal neovascularization was distributed as such: neovascularization elsewhere (NVE), 57.3%; neovascularization of the disc (NVD), 11.5%; both neovascularization of the disc and elsewhere (NVED), 31.3%. The proportion of non-perfused retina, so-called ischemic index, was greater in eyes with NVED compared to eyes with NVE only, but not when compared to NVD only. Overall, 83% of eyes had VL. The presence and the extent of VL correlated with the proportion of the ischemic index. While VL and ischemic index were more severe in the mid-periphery and far-periphery, the majority of NVE was located in the posterior pole.

Conclusions:
The presence of both NVD and NVE is associated with a greater ischemic index than NVE alone. Although both VL and ischemic index is significantly higher in peripheral zones, the majority of neovascularization occurs at the posterior pole.
Assessment of MIR200B Polymorphisms Association with Sight-Threatening Diabetic Retinopathy
Authors: Zal Niloufar , Safi Sare , Ahmadieh Hamid , Fekri Sahba , Najafi Sajad , Forouhari Ali , Moghaddasi Afrooz , Hejazi Majd , Kheiri Bahareh , Eslami Maryam , Suri Fatemeh 
Published: September 2024

Abstract

Purpose:
To assess the possible association between MIR200B variations and sight-threatening diabetic retinopathy (STDR).

Methods:
A total number of 141 diabetes mellitus patients were enrolled in the study and divided into two groups including 76 patients diagnosed with STDR assigned to the case group, and 65 subjects without STDR considered in the control group. Peripheral blood specimens were used to extract the DNA content, and the primary MIR200B encoding sequence was amplified using a polymerase chain reaction. Then, the amplified DNA was sequenced by the Sanger method. The sequences were compared to the MIR200B reference sequence to find sequence variations. RNAfold, miRVaS, and Mfold bioinformatics web servers were employed to predict the potential effects of the identified variations on RNA structure.

Results:
Two MIR200B gene variants were identified. Although both variations were found more frequent in cases than controls, statistical analysis of allelic and genotypic features did not reach statistical significance.

Conclusions:

In silico analysis showed mild changes in MIR200B secondary structure and increased free energy in the presence of one of the identified variants (g.1167183G>A; rs72563729). Increasing the sample size in future studies may help a more accurate interpretation of the allelic association of MIR200B variations with STDR.
Postkeratoplasty Corneal Plaques: A Case Series
Authors: Goweida Mohamed Bahgat Badawi , Kolaib Mohamed Aly , El-Menawy Wael Abdel Rahman , Abuelkheir Amr Fathi , Ghaith Alaa Atef 
Published: September 2024

Purpose:
To assess the risk factors and management of corneal plaques formed after keratoplasty.

Methods:
In this retrospective study, medical records of all eyes with plaques formed on top of corneal grafts performed in the period between January 2014 and January 2022 were reviewed. The retrieved data included prekeratoplasty corneal pathology, ocular risk factors, operative data and complications, plaque management, and chemical composition of the plaques using infrared spectrometer.

Results:
Thirteen eyes were included in this study. Predisposing ocular comorbidities included ocular surface disorders with variable degrees of dry eye in nine patients, rheumatoid arthritis in three patients, history of herpetic keratitis in two eyes, and cicatrizing conjunctivitis in two patients. Surgical excision and amniotic membrane transplantation (AMT) were performed in 12 eyes. Postoperatively, five eyes showed recurrence after excision, two eyes developed graft vascularization and scarring, and one eye showed persistent epithelial defect and graft scarring, whereas four eyes showed complete epithelialization with mild haze. Rekeratoplasty and AMT were performed in two eyes with no plaque recurrence. Chemical analysis using infrared spectrometry showed that the plaques consisted of ammonium magnesium phosphate and calcium phosphate carbonate in 9 (75%) cases and pure mucus in 3 (25%) cases.

Conclusions:
Postkeratoplasty corneal plaque formation is an underestimated complication of keratoplasty that may occur after persistent epithelial defects. Ocular surface disorders are the primary predisposing risk factors. In our experience, the prognosis after medical treatment or surgical scraping is guarded, and regrafting can be the only solution to restore graft clarity.
A Prospective Randomized Study Comparing 27-Gauge Vitrectomy to 23-Gauge Vitrectomy for Epiretinal Membranes and Full-Thickness Macular Holes
Authors: Caretti Luigi , Pillon Giulia , Verzola Giacomo , Monterosso Cristina , Formisano Martina 
Published: September 2024

Purpose:
To compare the surgical and clinical outcomes of 27-gauge vitrectomy and 23-gauge vitrectomy.

Methods:
We conducted a single-center, prospective, randomized study. Fifty-three patients affected by vitreoretinal interface disorders (epiretinal membranes and macular holes) were randomly scheduled to undergo 27-gauge (28 patients) or 23-gauge (25 patients) pars plana vitrectomy. The presence of any potential factor of increased baseline inflammation or eye anatomy influencing the surgery was criteria for exclusion. The time of surgery, postoperative intraocular pressure (IOP), state of sclerotomy wounds, rate of complications, postoperative pain, and indicators of inflammation were studied. We also introduced a new parameter to compare intraocular inflammation after surgery, given by the change in the number of intraretinal hyperreflective foci (HRF).

Results:
The 27-gauge vitrectomy was 1.28 min longer than 23-gauge vitrectomy (P < 0.05). The day after surgery, the mean IOP value was significantly higher in the 27-gauge group (16.12 mmHg versus 13.04 mmHg in the 23-gauge group,P < 0.05), but this difference disappeared in successive follow-ups and the sclerotomy wounds closed after 2 weeks in the both groups. The rate of postoperative hypotony did not significantly differ in the two groups (10.71% in the 27-gauge group and 8% in the 23-gauge group the day after the surgery,P = 0.94). Less postoperative eye redness was seen in 27-gauge eyes (value 1 on the scale) compared to 23-gauge (value 2 on the scale) (P < 0.05), but there was no significant difference in intraocular inflammation (cells, Tyndall, and number of HRF,P > 0.05 for all).

Conclusions:
The 27-gauge vitrectomy may have better outcomes in terms of IOP maintenance and cause less redness after the surgery but with a slightly prolonged surgery time and no other differences under other parameters (inflammation, rate of complications, postoperative pain, visual gain, and closure of the sclerotomy wounds).
Digital Survey Assessment of Individual and Occupational Factors Associated with Musculoskeletal Disorders among Indian Ophthalmologists
Authors: Robert Roshni , Babu Mahesh , Sudhakar N.A. , Sumanth B. 
Published: September 2024

Purpose:
To study the prevalence of musculoskeletal disorder (MSD) and the associated occupational risk factors among Indian ophthalmologists, including residents and fellows.

Methods:
A cross-sectional survey was conducted among ophthalmologists in India using a semi-structured questionnaire in a web-based survey. The questionnaire was prepared in English after extensive literature research and consulting with subject experts. It was pretested on ten ophthalmologists and after confirming that there were no ambiguities, the questionnaire was circulated. After providing informed consent online and ensuring the confidentiality of information, respondents could fill out the questionnaire containing questions to assess demographic details, risk factors, and musculoskeletal symptoms.

Results:
We received 551 valid responses, out of which 74.77% reported musculoskeletal symptoms since starting practice in ophthalmology. We found a statistically significant association of work-related MSD with greater hours of practice, a higher number of hours of surgery, and a larger patient load. The self-reported symptoms were maximum in lower back (56.55%), followed by neck (49.03%), upper back (38.59%), and shoulder (23.79%). As a remedial measure, 58.98% resorted to rest while only 8.98% consulted orthopedist. Only 46% were aware of good ergonomic practices. Surgery (74.5%), indirect ophthalmoscopy (51.69%), and slit-lamp examination (50.73%) were reported as the major culprits. Respondents declared an interference with personal life (39.56%), with work (33.74%) as well as having caused psychological stress (43.2%) due to work-related MSD.

Conclusion:
A vast majority of our respondents reported work-related MSD. Major risk factors were hours of practice, hours of surgery, higher body mass index, sedentary lifestyle, and higher patient load. The awareness of ergonomic practices was low.
Role of Abelson Helper Integration Site 1, Nebulin, and Paired Box 3 Genes in the Development of Nonsyndromic Strabismus in a Series of Iranian Families: Sequence Analysis and Systematic Review of the Genetics of Nonsyndromic Strabismus
Authors: Rahpeyma Maliheh , Sabermoghaddam Aliakbar , Kiarudi Mohammad Yaser , Aghabozorgi Amirsaeed Sabeti , Pasdar Alireza 
Published: September 2024

Purpose:
To look for causative genetic mutations in a series of Iranian families with strabismus. In addition, we systematically reviewed all the published articles regarding the role of genetic variations in primary and nonsyndromic comitant strabismus.

Methods:
Four families with a history of multiple cases of primary and nonsyndromic comitant strabismus were enrolled in this study. Polymerase chain reaction and Sanger sequencing of exons 23, 11, and 3 of the Abelson helper integration site 1 (AHI1), nebulin (NEB), and paired box 3 (PAX3) genes were performed, respectively. One offspring of a consanguineous marriage underwent whole-exome sequencing (WES) to look for possible causative variants. To conduct a systematic review, we thoroughly searched PubMed, Scopus, and ISI Web of Knowledge extracting relevant publications, released by April 2021.

Results:
We examined four Iranian strabismus pedigrees with multiple affected offspring in different generations. Among these 17 participants, 10 family members had strabismus and 7 were healthy. Sanger sequencing did not reveal a causative mutation. Therefore, to further investigate, one affected offspring was chosen for WES. The WES study demonstrated two possible variants in MYO5B and DHODH genes. These genetic variants showed high allele frequency in our population and are thought to be polymorphisms in our series of Iranian families.

Conclusions:
We demonstrated that mutations in AHI1, NEB, and PAX3 genes were not common in a series of Iranian patients with familial strabismus. Moreover, by performing WES, we revealed that two variants of uncertain significance as possible causative variants for strabismus are not related to this disease in our population.
Intraocular Pressure Changes after Intravitreal Bevacizumab Or Ranibizumab Injection
Authors: Mansoori Tarannum , Agraharam Satish Gooty , Manwani Sunny , Balakrishna Nagalla 
Published: September 2024

Purpose:
To determine intraocular pressure (IOP) changes after intravitreal bevacizumab or ranibizumab injection administered for various retinal disorders.

Methods:
A retrospective chart review of 796 eyes of 574 patients receiving intravitreal ranibizumab (0.5 mg) and/or bevacizumab (1.25 mg) injection for different retinal diseases from March 2009 to December 2016 was performed. Ocular hypertension (OHT) was defined as IOP >21 mmHg or an increase in IOP of >5 mmHg from the baseline. IOP at the baseline and at various time periods after the injection was evaluated in the injected eyes and fellow control eyes.

Results:
One hundred and thirty-one eyes received either a single dose of bevacizumab or ranibizumab intravitreal injection unilaterally, 222 patients received single injection in both the eyes (n = 444 eyes), and 221 eyes received multiple doses of the injection. OHT was noted in 11 eyes (1.38%), of which 3 eyes (0.38%) had transient OHT and 8 eyes (1%) had delayed and sustained OHT and among them, 3 eyes (0.4%) progressed to glaucoma. Preinjection IOP was significantly higher in the treated eyes when compared to the control untreated eyes (P = 0.006).

Conclusions:
Incidence of delayed and sustained OHT is low after a single or multiple intravitreal bevacizumab and ranibizumab injections. Clinicians should be aware of possibility of OHT or glaucoma after the procedure.
Efficacy of Oral Dextrose versus Acetaminophen versus Placebo on Pain Relief during Retinopathy of Prematurity Eye Examinations: A Randomized, Double-Blind Controlled Clinical Trial
Authors: Madvar Hamed Riyahi , Shadravan Mahla , Mousavi Hamid , Nejad Amir Khosrou Ghasemi , Shamsi Anis , Iyer Siva SR , Roohipourmoallai Ramak 
Published: September 2024

Purpose:
To assess the effect of oral dextrose versus acetaminophen versus placebo in pain relief in retinopathy of prematurity (ROP) examination.

Methods:
In this prospective randomized, double-blind controlled clinical trial study performed in the ophthalmology clinic of Shafa Hospital (referral hospital for eye disease), Kerman, Iran, 105 premature neonates with birth weight ≤2000 g and gestational age between 28 and 34 weeks were studied. Pain score measurement with Premature Infant Pain Profile-Revised (PIPP-R) during ROP examination in three intervention groups, acetaminophen group (15 mg/kg oral acetaminophen), dextrose group (one cc of oral dextrose 50%), and placebo group (one cc of distilled water), was done.

Results:
Out of 105 infants, 33 infants received acetaminophen drops, 35 infants received dextrose drops, and 37 infants received placebo. The mean pain score of the group receiving acetaminophen was 11.39, dextrose 12.17, and placebo 11.54. The acetaminophen group had a lower average PIPP-R score. This difference was not significant between the three groups (P = 0.38).

Conclusions:
Acetaminophen and dextrose in comparison with distilled water did not show a significant difference in reducing neonatal pain during ROP examinations. However, the PIPP-R score in the acetaminophen group was lower compared to the other groups.
Isolated Penile Elephantiasis – An Unusual Presentation
Authors: Gurugubelli Krishna Rao , Boda Bharath Kumar , Darsan S. Lal , Moorthy H. Krishna 
Published: September 2024

Abstract
Isolated elephantiasis of the penis is rare. The infective cause is commonly due to lymphatic filariasis, a neglected tropical disease caused by Wuchereria bancrofti. The swelling of the affected skin and soft tissues results from impaired lymphatic drainage of the affected area due to a chronic inflammatory response to the dead and dying filaria worms in the lymphatic vessels. We describe the case of a 41-year-old man who presented with isolated penile elephantiasis, probably due to lymphoid caused by W. bancrofti infection. The patient had a successful surgical resection of redundant and fibrous penile skin tissue, resulting in an overall improvement in his quality of life. However, to our surprise, the diagnosis was a fibrous inflammatory disease of the penis.