Bestinopathies are a spectrum of retinal disorders associated with mutations in BEST1 including autosomal recessive bestrophinopathy (ARB) and autosomal dominant Best vitelliform macular dystrophy (BVMD). We applied whole-exome sequencing on four unrelated Indian families comprising eight affected and twelve unaffected individuals. We identified five mutations in BEST1, including p.Tyr131Cys in family A, p.Arg150Pro in family B, p.Arg47His and p.Val216Ile in family C and p.Thr91Ile in family D. Among these, p.Tyr131Cys, p.Arg150Pro and p.Val216Ile have not been previously reported. Further, the inheritance pattern of BEST1 mutations in the families confirmed the diagnosis of ARB in probands in families A, B and C, while the inheritance of heterozygous BEST1 mutation in family D (p.Thr91Ile) was suggestive of BVMD. Interestingly, the ARB families A and B carry homozygous mutations while family C was a compound heterozygote with a mutation in an alternate BEST1 transcript isoform, highlighting a role for alternate BEST1 transcripts in bestrophinopathy. In the BVMD family D, the heterozygous BEST1 mutation found in the proband was also found in the asymptomatic parent, suggesting an incomplete penetrance and/or the presence of additional genetic modifiers. Our report expands the list of pathogenic BEST1 genotypes and the associated clinical diagnosis.

ImportanceOcular trauma terminology should be periodically updated to enable comprehensive capturing and monitoring of ocular trauma in clinical and research settings.ObjectiveTo update terminology for globe and adnexal trauma.Design, Setting, and ParticipantsA 2-round modified Delphi survey was conducted from January 1 to July 31, 2021, using an expert panel, including 69 ophthalmologists identified through their membership in ophthalmology (globe and adnexal trauma) societies. Consensus was defined as at least 67% expert agreement. A steering committee developed questions after identifying gaps in the current terminology via a targeted literature review. Round 1 sought consensus on existing and newly proposed terminology, and round 2 focused on unresolved questions from round 1. Experts included ophthalmologists who had managed, on average, 52 globe or adnexal trauma cases throughout their careers and/or published a total of 5 or more globe or adnexal trauma–related peer-reviewed articles.Main Outcomes and MeasuresExpert consensus on ocular and adnexal terms.ResultsA total of 69 experts participated in and completed round 1 of the survey. All 69 participants who completed round 1 were asked to complete round 2, and 58 responses were received. Consensus was reached for 18 of 25 questions (72%) in round 1 and 4 of 7 questions (57%) in round 2. Existing Birmingham Eye Trauma Terminology system terminology achieved consensus of 84% (58 of 69 experts) in round 1 and 97% (56 of 58 experts) in round 2. Experts agreed on the need for further refinement of the definition of zones of injury (55 of 69 [80%]), as the zone affected can have a substantial effect on visual and functional outcomes. There was consensus that the mechanism of injury (52 of 69 [75%]) and status of the lacrimal canaliculi (54 of 69 [78%]), nasolacrimal ducts (48 of 69 [69%]), lens (46 of 58 [80%]), retina (42 of 58 [73%]), and central and paracentral cornea (47 of 58 [81%]) be included in the revised terminology.Conclusions and RelevanceThere was consensus (defined as at least 67% expert agreement) on continued use of the existing Birmingham Eye Trauma Terminology system definitions and that additional terms are required to update the current ocular trauma terminology.

Purpose:To measure the wall-to-lumen ratio (WLR) and the vascular wall cross-sectional area (WCSA) of retinal arterioles by an Adaptive Optics (AO) retinal camera using semi-automated software and comparing them between control and hypertensive population.Methods:This was a cross-sectional observational study including a hypertensive group and a control group. Subjects were examined and their medical history recorded. Retinal arteriolar morphometry was assessed by rtx1 AO retinal camera using AOdetect Artery semiautomated software. Main Outcome Measures: WLR and WCSA were measured on the basis of retinal arteriolar wall thickness (W1, W2), lumen diameter (LD) and vessel diameter (VD). Influence of age and arterial hypertension on the WLR and WCSA were examined.Results:A total of 150 human subjects were included out of which 110 were controls and 40 were hypertensives under treatment. There was statistically significant difference in the age, systolic and diastolic blood pressures between the control and hypertensive groups (P < 0.01). We found no significant correlation between age and WLR (R2 = 0.049, P > 0.05) or age and WCSA (R2 = 0.045, P > 0.05). We observed a significant difference in WLR and WCSA measurements between control and hypertensive groups (P < 0.01). On measuring intra-observer variability (IOV) we found excellent consistency.Conclusion:AO retinal imaging allows a direct measurement of the retinal vessel wall and LD with excellent IOV. WLR and WCSA reflect the remodelling process and can be used to further aid the early detection and monitoring of systemic hypertension.

We present a case of a 37-year-old gentleman with a rare diagnosis of Torpedo maculopathy (TM). We describe the multimodal imaging features of torpedo maculopathy using adaptive optics, visual fields, OCT and multifocal ERG, and understand the clinical and structural-functional correlation in TM. According to us, this is the first case report to describe the adaptive optics imaging findings in Torpedo maculopathy in English Medical literature.

Pneumatic displacement is an effective technique in the management of SMH due to recent or old blunt trauma.