Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

Acknowledgements This research was funded by the Swiss National Science Foundation (Grant #176097 to CR). We would like to express gratitude to the patients and all their family members that participated in this study for their valuable cooperation and participation.Peer reviewedPublisher PD

Optic Nerve Head Optical Coherence Tomography Angiography Findings after Coronavirus Disease

Purpose: To quantify the microvasculature density of the optic nerve head (ONH) using optical coherence tomography angiography (OCTA) analysis in patients recovered from Coronavirus Disease 2019 (COVID-19). Methods: In a comparative cross-sectional, observational study, patients recovered from COVID- 19 whose initial diagnosis was confirmed by an rRT-PCR of a nasopharyngeal sample were included in this study. OCTA of ONH was performed in included patients and normal controls. Vascular density (VD) of the all vessels (AV) and small vessels (SV) inside the disc and radial peripapillary capillary (RPC) network density was measured in COVID-19 recovered patients and compared with similar parameters in an age-matched group of normal controls. Results: Twenty-five COVID-19 patients and twenty-two age-matched normal controls were enrolled in the study and one eye per participant was evaluated. The mean whole image SV VD in the COVID-19 group (49.31 ± 1.93) was not statistically significantly different from that in the control group (49.94 ±. 2.22; P = 0.308). A decrease in RPC VD was found in all AV and SV VD measured, which became statistically significant in whole peripapillary SV VD, peripapillary inferior nasal SV VD, peripapillary inferior temporal SV VD, peripapillary superior nasal SV VD, and grid-based AV VD inferior sector (P < 0.05). Inside disc SV VD in the COVID-19 group (49.43 ± 4.96) was higher than in the control group (45.46 ± 6.22) which was statistically significant (P = 0.021). Conclusion: Unremarkable decrease was found in ONH microvasculature in patients who had recovered from COVID-19. These patients may be at risk of ONH vascular complications. Increase in inner disc SV VD may be an indicator of ONH hyperemia and edema

Is there any correlation between vitamin D insufficiency and diabetic retinopathy?

AIM: To determine a relation between vitamin D level, which is an inhibitor of angiogenesis, and diabetic retinopathy and its risk factors METHODS: In a clinic-based cross sectional study two hundred and thirty-five type 2 diabetic patients older than 20y were selected. Patients were classified according to ophthalmologic examination as following: no diabetic retinopathy (NDR) (n=153), non-proliferative diabetic retinopathy (NPDR) (n=64) and proliferative diabetic retinopathy (PDR) (n=18). Study subjects were tested for fasting blood glucose, glycated hemoglobin A1C (HbA1C), lipid profile, microalbuminuria, HsCRP, IGF1, insulin (in patients without history of insulin taking) and 25 hydroxy vitamin D [25 (OH) D] levels. Vitamin D insufficiency was defined according to 25 (OH) D level less than 30 ng/mL. The relationship between diabetic retinopathy and serum 25 (OH) D insufficiency was evaluated. RESULTS: The prevalence of diabetic retinopathy was 34.8% in our patients. Long duration of diabetes, hypertension, poor glycemic control, diabetic nephropathy, hyperinsulinemia and insulin resistance were risk factors for diabetic retinopathy but 25 (OH) D level was not significant different between NDR, NPDR and PDR groups. Correlation between 25 (OH) D level and other known risk factors of diabetic retinopathy was not significant. CONCLUSION: This study did not find any association between diabetic retinopathy and its severity and vitamin D insufficiency. Vitamin D insufficiency is not related to risk factors of diabetic retinopathy

Branch Retinal Artery Occlusion in a Patient with Patent Foramen Ovale

Purpose: To report branch retinal artery occlusion (BRAO) in a patient with patent foramen ovale (PFO). Case Report: A 29-year-old female patient was referred for sudden onset superior visual field defect in her left eye. Ocular examination revealed visual acuity of 20/32 in the affected eye along with a positive relative afferent pupillary defect. A calcified white embolus was noted at the first bifurcation of the inferior temporal artery in her left eye together with mild retinal edema. With a diagnosis of BRAO, the patient received oral acetazolamide, topical timolol, ocular massage and anterior chamber paracentesis. The visual field defect partially recovered and the embolus moved to the third bifurcation level as revealed by fundus examination. An extensive workup, including neurology, rheumatology, cardiology and hematology consultation, carotid ultrasonography, transthoracic/transesophageal echocardiography and laboratory testing was performed. All results were within normal limits except for a small-sized PFO detected by transesophageal echocardiography. Low-dose aspirin therapy was initiated and over the subsequent two years, no other embolic event occurred. Conclusion: The association between PFO and BRAO has not yet been reported. Intracardiac right-to-left shunting through a PFO, accentuated by Valsalva maneuver, may predispose to embolic events while the source of initial thrombosis remains unknown

Sulfur Mustard Exposure and Non-Ischemic Central Retinal Vein Occlusion

A 41-year-old man was referred with a complaint of visual loss in his left eye and his best corrected visual acuity was 20/80. Slit lamp examination showed arborizing conjunctival vessels and dry eye. Fundus examination and fluorescein angiography revealed a non-ischemic central retinal vein occlusion. Cardiovascular, rheumatologic, and hematologic work up showed no abnormal findings. An ascertained history of exposure to sulfur mustard during the Iran-Iraq war was documented in his medical history. Four sessions of intravitreal bevacizumab injections were done as needed. After two-year follow-up, visual acuity in his left eye improved to 20/25 and macular edema was resolved without any need for further interventions. We conclude that sulfur mustard gas exposure may be considered as a predisposing factor for central retinal vein occlusion, as was found in our patient (an Iranian war veteran) by excluding all yet known etiologies and predisposing factors

Intravitreal Bevacizumab with or without Triamcinolone for Refractory Diabetic Macular Edema: Long-term Results of a Clinical Trial

Purpose: To report the long-term results of intravitreal bevacizumab (IVB) injection alone or combined, at the time of first IVB injection, with intravitreal triamcinolone acetonide (IVT) for treatment of refractory diabetic macular edema (DME). Methods: In this randomized clinical trial, 115 eyes of 101 patients with refractory DME were enrolled and randomly assigned to one of the three study arms: the IVB group (41 eyes) received three consecutive injections of 1.25 mg IVB at 6-week intervals; the IVB/IVT group (37 eyes) additionally received 2 mg of IVT at the time of first IVB injection; and the control (sham injection) group. Patients in the IVB and IVB/IVT groups were followed for a mean of 13.3 months and received retreatment with IVB alone whenever indicated. Main outcome measures were best corrected visual acuity (BCVA) and central macular thickness (CMT). Results: At the last follow up, CMT decreased significantly in the IVB group (p=0.013) but it was not significant (p=0.13) in the IVB/IVT group. Mean CMT improvement was 91 (95% CI, 20 to 161) microns and 57 (95% CI, -18 to 133) microns in the IVB and IVB/ IVT groups, respectively. Mean BCVA improvement from baseline was 0.28 (95% CI, 0.18 to 0.38) logMAR (P=0.017) in the IVB group and 0.19 (95% CI, 0.08 to 0.30) logMAR (P=0.001) in the IVB/IVT group. There was no difference between the two groups in terms of visual improvment (p=0.42). In generalized linear mixed model, only the time interval between the last injection and CMT measurement was statistically significant (P=0.04). The same results were repeated for visual acuity (P=0.03). Conclusion: Three loading doses of IVB (added doses if required) have long-term beneficial effects for treatment of refractory DME. Adding triamcinolone to this regimen provides no additional long-term benefit

Bilateral Multifocal Choroidal Osteoma with Choroidal Neovascularization

Choroidal osteoma has been reported to be unilateral in approximately 80% of cases diagnosed with this condition. Herein we report the clinical characteristics and multimodal imaging findings in a rare case of bilateral multifocal choroidal osteoma. A 32-year-old female presented with decreased visual acuity (VA) in the right eye (20/100), though she had normal VA (20/20) in the left eye. Ophthalmoscopy and multimodal imaging investigation revealed bilateral multifocal choroidal osteoma complicated by choroidal neovascularization (CNV) in the right eye. Following three injections of intravitreal bevacizumab (IVB) for CNV in the right eye, VA improved to 20/40

Structure versus function in high myopia using optical coherence tomography and automated perimetry

Background: To examine the structure–function relationship between retinal thickness using spectral-domain optical coherence tomography and standard automated perimetry in high myopia. Methods: The study population comprised 58 highly myopic individuals with no posterior abnormalities (mean spherical equivalent refraction ≤ −6.00 D and axial length ≥ 26.0 mm). All eyes underwent optical coherence tomography with the Spectralis spectral domain optical coherence tomograph and visual field evaluation with the Humphrey Field Analyzer II-i. Average macular layer thicknesses in each quadrant were calculated in a 6 × 6 mm area centred on the fovea. The visual field was assessed from 17 central locations (10°), approximately the equivalent of the area tested by optical coherence tomography in the macular scan. Linear correlations were made between different macular layer thicknesses and peripapillary retinal nerve layer thickness with their matched visual field sensitivities. Results: Participant ages were 28.2 ± 6.4 years, mean spherical equivalent refractions were −8.20 ± 1.40 D and axial lengths were 26.7 ± 0.7 mm. There were significant positive correlations between layer thickness and corresponding visual field sensitivities as follows: ganglion cell layer in all quadrants, temporal quadrant of the nerve fibre layer with nasal quadrant of the visual field, inferior quadrant of the outer nuclear layer with superior visual field, and temporal-superior peripapillary nerve fibre layer with nasal-inferior visual field. Conclusion: The correlation between retinal layer thicknesses and visual field sensitivity could be explained by myopia-related losses due to lateral retinal stretching, with further research required to investigate this.</p

Patterns of uveitis at a tertiary referral center in Northeastern Iran

Purpose: To describe the demographic and clinical patterns of patients with uveitis referred to a tertiary center in northeastern Iran. Methods: This cross-sectional retrospective study included 235 patients with uveitis who had been referred to the uveitis clinic of Khatam-Al-Anbia eye hospital, affiliated to Mashhad University of Medical Sciences, from February 2013 to March 2014. Data regarding patient age, sex, anatomical location of the disease, and etiologic and clinical features were analyzed. Results: Mean patient age at the onset of uveitis was 35.75 ± 16.3 (range: 3–82) years. The ratio of females to males was 1.5 to 1. Sixty-four percent had bilateral involvement. The predominant type of inflammation was non-granulomatous (76%). Panuveitis (46.8%, 110 cases) was the most common form of uveitis followed by anterior (37%, 87 cases), intermediate (11.9%, 28 cases), and posterior uveitis (4.25%, 10 cases). The most common diagnoses were “idiopathic” in anterior and intermediate uveitis cases, toxoplasmosis in posterior uveitis group, and Behçet and Vogt-Koyanagi-Harada diseases in panuveitis cases. Overall, noninfectious causes (80.42%) of uveitis were more frequent than infectious causes (19.57%). The proportion of noninfectious uveitis was 82.75% in anterior uveitis, 78.18% in panuveitis, 92.85% in intermediate uveitis, and 50% in posterior uveitis. The most common associated systemic disease was Behçet disease. Conclusion: In contrast to most epidemiologic studies of uveitis, the clinical and etiologic patterns of uveitis were different in a tertiary referral center in northeastern Iran. Panuveitis was the most common clinical pattern in this study, and the most common associated systemic disease was Behçet disease