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Purpose : To examine the spectrum of scleritis in four tertiary institutions across the Asia-Pacific. Methods : Clinical records from 354 patients were reviewed from centers in Australia, Singapore, and India, excluding those with insufficient data ( n  = 24). Results : Indian patients presented younger (41.5 ± 13.4 years) than Australians (50.8 ± 17.5) and Singaporeans (48.6 ± 15.9), with fewer women (49% vs 62%/57%). Diffuse disease was universally most common. Autoimmune and infectious disease proportions were similar in Australia (31%/10.3%) and Singapore (27.5%/8.3%) but reversed in India (8.3%/30%). Necrotizing scleritis was most frequently associated with infection (27.3%). Presumed ocular tuberculosis accounted for 75% of infectious cases in India. Posterior scleritis had the highest complication rate (82.4%) and immunosuppressants used per patient (0.98 ± 0.31 95% CI). Conclusions : Clinical presentations of scleritis vary across the Asia-Pacific, particularly in endemic regions for tuberculosis such as India, where it affects younger men with a predominance of nodular and infectious disease.

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.