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1.
Indian J Ophthalmol ; 2020 Apr; 68(4): 660-662
Artigo | IMSEAR | ID: sea-197891

RESUMO

A lady who underwent lensectomy for microspherophakia and pars plana vitrectomy for retinal detachment in her left eye developed recurrent filtering blebs at the site of sclerotomies. Filtering blebs were managed by suturing the sclerotomies. Targeted gene sequencing identified a variant of ASPH gene (p.Arg688Gln) which is not known to be associated with Traboulsi syndrome. But considering the paucity of cases with genetic analysis, it would be possible that p.Arg688Gln is a pathogenic variant. This is the first case report of Traboulsi syndrome due to an ASPH variant not reported earlier that can lead to recurrent filtering blebs.

2.
Indian J Ophthalmol ; 2019 Sep; 67(9): 1469-1470
Artigo | IMSEAR | ID: sea-197477
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