Congenital Stationary Night Blindness Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.

OBJECTIVE: To examine the molecular causes of Schubert-Bornschein (S-B) congenital stationary night blindness (CSNB), clinically characterize in detail, and assess genotype-phenotype correlations for retinal function and structure. DESIGN: Retrospective, longitudinal, single-center case series. PARTICIPANTS: One hundred twenty-two patients with S-B CSNB attending Moorfields Eye Hospital, United Kingdom. METHODS: All case notes, results of molecular genetic testing, and OCT were reviewed. MAIN OUTCOME MEASURES: Molecular genetics, presenting complaints, rates of nystagmus, nyctalopia, photophobia, strabismus, color vision defects and spherical equivalent refraction (SER). Retinal thickness, outer nuclear layer (ONL) thickness, and ganglion cell layer + inner plexiform layer (GCL+IPL) thickness from OCT imaging. RESULTS: X-linked (CACNA1F and NYX) and autosomal recessive (TRPM1, GRM6, GPR179 and CABP4) genotypes were identified. The mean (± standard deviation) reported age of onset was 4.94 ± 8.99 years. Over the follow-up period, 95.9% of patients reported reduced visual acuity (VA), half had nystagmus, and 64.7% reported nyctalopia. Incomplete CSNB (iCSNB) patients more frequently had nystagmus and photophobia. Nyctalopia was similar for iCSNB and complete CSNB (cCSNB). Color vision data were limited but more defects were found in iCSNB. None of these clinical differences met statistical significance. There was no significant difference between groups in VA, with a mean of 0.46 logarithm of the minimum angle of resolution, and VA remained stable over the course of follow-up. Complete congenital stationary night blindness patients, specifically those with NYX and TRPM1 variants, were more myopic. CACNA1F patients showed the largest refractive variability, and the CABP4 patient was hyperopic. No significant differences were found in OCT structural analysis during the follow-up period. CONCLUSIONS: Retinal structure in CSNB is stationary and no specific genotype-structure correlates were identified. Visual acuity seems to be relatively stable, with rare instances of progression. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

CLINICAL FEATURES AND SURGICAL OUTCOMES OF SCLERAL BUCKLE SURGERY FOR PRIMARY RHEGMATOGENOUS RETINAL DETACHMENT: Moorfields Buckle Study.

PURPOSE: Long-term study to evaluate the clinical and surgical outcomes of scleral buckle (SB) surgery for primary rhegmatogenous retinal detachment (RRD) at a large tertiary eye center. METHODS: Noncomparative, retrospective case series of 589 eyes of 569 patients with primary RRD who underwent SB surgery between 2004 and 2022 with a median follow-up of 6 months. The main outcome measures were best-corrected visual acuity, surgical outcomes, complications, and classification of RRD. RESULTS: At baseline, 447/589 (76.1%) round hole RRD, and 133/589 (22.7%) retinal dialysis RRD. Overall primary SB success rate was 83.7% for all retinal detachment subtypes, with round hole retinal detachment 84.8% and dialysis RRD 81.2%. Overall, the baseline best-corrected visual acuity was 0.42 logarithm of the minimum angle of resolution (logMAR) and the final best-corrected visual acuity was 0.26 logMAR ( P < 0.0001). In macula-off RRD, the best-corrected visual acuity significantly improved from 0.79 to 0.48 logMAR ( P < 0.0001). In patients with macula-on RRD, it improved from 0.19 to 0.12 logMAR ( P = 0.014). Binary logistic regression showed registrar surgeon grade (odds ratio [OR] 0.09, 95% confidence interval [CI] 0.01-0.55), and partial or complete posterior vitreous detachment (OR 0.21, 95% CI 0.10-0.49) was associated with reduced odds of primary success. Higher surgical failure was associated with low pre-fellowship SB surgeon experience ( P = 0.024). CONCLUSION: Favorable visual and functional outcomes have been reported in a large series of SB for primary retinal detachment, mainly for patients with round hole RRD and retinal dialysis RRD.

Rhegmatogenous retinal detachment in choroidal melanoma: clinical features and surgical outcomes.

PURPOSE: To describe the clinical features, prognostic factors, safety and rate of success of surgery and visual outcomes in patients with rhegmatogenous retinal detachment (RRD) and choroidal melanoma (CM). METHODS: A retrospective, observational case-series of 21 patients with rhegmatogenous retinal detachment or combined tractional-rhegmatogenous retinal detachment in patients with choroidal melanoma over a period of 20 years. RESULTS: Nineteen patients were included in the final analysis. The mean elevation of CM was 4.0 mm and the mean largest diameter was 11.0 mm. RRD occurred after the CM treatment in 14 eyes at a mean interval of 44.2 months. The RRD was macula-on RRD in 6 eyes, there was posterior vitreous detachment (PVD) in 15 and PVR in 7 eyes. BCVA at presentation was 0.71 logMAR and final was 1.5 logMAR (p = 0.01). The primary surgical success rate was 59%. No intraocular or extraocular tumour dissemination occurred. Mean follow-up was 66 months. CONCLUSION: RRD in patients with CM is uncommon but requires multidisciplinary management. Anatomical results are favourable but visual outcomes are poor due to a combination of factors related to melanoma treatment, macular retinal detachment and PVR. Vitrectomy as a surgical intervention for RRD in treated CM appears to be safe in terms tumour dissemination.

Long-term vision outcomes for patients with albinism and diabetic retinopathy.

PURPOSE: Albinism defines a group of genetic diseases which result from disordered melanin biosynthesis. Proliferative diabetic retinopathy (PDR) results from poorly controlled type 1 or 2 diabetes mellitus (DM) and can lead to blindness due to progressive neovascularisation. However, the treatment of PDR in patients with ocular/oculocutaneous albinism may be more challenging. In this study, we compared a group of patients with albinism and PDR, to a group with albinism and diabetes mellitus but no PDR, to examine the long-term implications. METHODS: Retrospective observational study included all patients with ocular albinism (OA) or oculocutaneous albinism (OCA) and DM who presented at a single specialist centre. Participants were allocated into either group 1 (eyes with PDR) or group 2 (all eyes without PDR). Statistical analysis was performed using SPSS V26.0. Between-group differences were investigated. RESULTS: Outcome data was available for 5 eyes from 3 participants in group 1 and 26 eyes from 13 participants in group 2. Despite interventions, a large and significant difference in vision at follow-up was observed between group 1 and group 2 (mean change in visual acuity: 1.11 (± 1.00) versus - 0.15 (± 0.46), respectively; p = < 0.0001). CONCLUSION: PDR is associated with poor long-term prognosis despite interventions for patients with albinism. Those without PDR appear to maintain stable vision. Alternative treatments for PDR and its complications may be required in this population. Measures to prevent the development of diabetic eye disease and progression towards PDR should be employed at an early stage.

Photoaversion in inherited retinal diseases: clinical phenotypes, biological basis, and qualitative and quantitative assessment.

Severe light sensitivity is a feature common to a range of ophthalmological and neurological diseases. In inherited retinal diseases (IRDs) particularly, this may be accompanied by significant visual disruption. These symptoms are extremely debilitating for affected individuals and have significant implications in terms of day-to-day activities. Underlying mechanisms remain to be fully elucidated. Currently, there are many assessments of photoaversion (PA), however, all have limitations, with quantitative measurement in particular needing further evaluation. To understand the complexities associated with photoaversion from different pathologies, qualitative and quantitative assessments of the light aversion response must be standardized. There is no treatment to date, and strategies to alleviate symptoms focus on light avoidance. With respect to IRDs, however, gene therapy is currently being investigated in clinical trials and promising and further treatments may be on the horizon. The better characterization of these symptoms is an important end point measure in IRD gene therapy trials.

LATE PRESENTATION OF RETINAL DETACHMENT: CLINICAL FEATURES AND SURGICAL OUTCOMES.

PURPOSE: To describe and evaluate demographic, clinical features, prognostic factors, and rate of success of surgery and visual outcomes in patients with late presentation of retinal detachment. METHODS: A retrospective, comparative, observational case series of patients with late presentation retinal detachment, defined as retinal detachment with the loss of central vision for 4 weeks or more, over a period of 12 months. RESULTS: The mean of onset of central visual loss was 12.7 weeks (SD, 21.3). Proliferative vitreoretinopathy at the first operation was identified in 69% of eyes. The overall primary success rate was 69.2%, significantly less than that was found in outcomes for nonselected retinal detachment (primary success rate, 86%; P = 0.006). The initial best-corrected visual acuity was 20/500, and the final was 20/160 (P = 0.0027). There were no identifiable statistically significant socioeconomic factors related to late presentation. CONCLUSION: A high rate of established proliferative vitreoretinopathy on presentation was identified, and although cases can be treated with good anatomical results, visual outcomes are often less favorable. Primary surgical success is lower, and more reoperations are required compared with standard retinal detachments.

Prevalence and severity of diabetic retinopathy in patients attending the endocrinology diabetes clinic at Mulago Hospital in Uganda.

AIMS: The epidemiology for diabetic retinopathy (DR) has been well described in the western population. Countries in Sub-Saharan Africa have attempted to identify the prevalence of diabetic eye disease, however, there still remains a degree of paucity across the continent due to inadequacy in health system organisations and resource poor settings. We aimed to identify the severity and prevalence of DR and maculopathy of patients attending the diabetes clinic at Mulago Hospital, Kampala, Uganda. METHODS: A cross-sectional observational study of 44 patients who attended a diabetes clinic at Mulago Hospital in April 2016. Parameters measured included visual acuity (VA) using a Snellen chart, blood glucose (mmol/l) and blood pressure (mmHg). Screening for DR grading was carried out with indirect fundoscopy and retinal photograph. Only the highest graded eye of retinopathy of each patient was included. RESULTS: A total of 41 eyes from 41 patients were included. Of these patients 15 were male. The average age of patients was 50.4 years. Six eyes (14.6%) had a VA < 6/18. Prevalence of DR was 19.5% (8 eyes) and 14.6% (6 eyes) had maculopathy. Of all eyes 14.6% had sight-threatening retinopathy, which was 85.7% of total cases of retinopathy in our study. CONCLUSIONS: We observed a high prevalence of DR and maculopathy, particularly sight threatening retinopathy, considering the proportion of patients screened. There is a need for a co-ordinated diabetes screening service through integration of the diabetes clinic and eye clinic at Mulago Hospital to better identify and treat this sight-threatening condition.

Effect of varying skin surface electrode position on electroretinogram responses recorded using a handheld stimulating and recording system.

PURPOSE: A handheld device (the RETeval system, LKC Technologies) aims to increase the ease of electroretinogram (ERG) recording by using specially designed skin electrodes, rather than corneal electrodes. We explored effects of electrode position on response parameters recorded using this device. METHODS: Healthy adult twins were recruited from the TwinsUK cohort and underwent recording of light-adapted flicker ERGs (corresponding to international standard stimuli). In Group 1, skin electrodes were placed in a "comfortable" position, which was up to 20 mm below the lid margin. For subsequent participants (Group 2), the electrode was positioned 2 mm from the lid margin as recommended by the manufacturer. Amplitudes and peak times (averaged from both eyes) were compared between groups after age-matching and inclusion of only one twin per pair. Light-adapted flicker and flash ERGs were recorded for an additional 10 healthy subjects in two consecutive recording sessions: in the test eye, electrode position was varied from 2 to 10-20 mm below the lid margin between sessions; in the fellow (control) eye, the electrode was 2 mm below the lid margin throughout. Amplitudes and peak times (test eye normalised to control eye) were compared for the two sessions. RESULTS: Including one twin per pair, and age-matching yielded 28 individuals per group. Flicker ERG amplitudes were significantly lower for Group 1 than Group 2 participants (p = 0.0024). However, mean peak times did not differ between groups (p = 0.54). For the subjects in whom electrode position was changed between recording sessions, flash and flicker amplitudes were significantly lower when positioned further from the lid margin (p < 0.005), but peak times were similar (p > 0.5). CONCLUSIONS: Moving the skin electrodes further from the lid margin significantly reduces response amplitudes, highlighting the importance of consistent electrode positioning. However, this does not significantly affect peak times. Thus, it may be feasible to adopt a more comfortable position in participants who cannot tolerate the recommended position if analysis is restricted to peak time parameters.

Optical coherence tomography imaging of optic disc cavernous haemangioma.

Optic disc cavernous haemangiomas are either found incidentally or after presentation with vitreous haemorrhage. They are characterised by a cluster of grapes appearance to the multiple vascular saccules that make up the tumour. They are more often found in the retinal periphery but rarely occur at the optic disc. Optical coherence tomography (OCT) imaging may be a useful non-invasive imaging modality to follow-up these lesions. We present the case of an asymptomatic 60-year-old lady referred from her optometrist with a lesion overlying the optic disc and the ensuing diagnosis of cavernous haemangioma using fundus fluorescein angiography and OCT.