Multimodal imaging and genetic analysis in a rare case of autosomal recessive bestrophinopathy in India

We report a rare case of autosomal recessive bestrophinopathy (ARB) in India, where multimodal imaging and genetic analysis were done. Optical coherence tomography revealed a thickened Verhoeff’s membrane in both eyes and genetic analysis revealed a homozygous missense mutation in exon 4. To the bes...

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Bibliografiska uppgifter

Huvudupphov:	Ahana Sen, Sanatombi Thounaojam, Bristi Majumdar, Urvashi Kala, Sampurna Bhattacharyya, Ruchira Chowdhury, Amrita Pradhan, Surabhi Chattree, Kumar Saurabh, Rupak Roy
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Wolters Kluwer Medknow Publications 2024-04-01
Serie:	Indian Journal of Ophthalmology. Case Reports
Ämnen:	autosomal recessive bestrophinopathy bestrophinopathy genes genetic analysis india interdigitation zone macular retinal dystrophy verhoeff’s membrane vitelliform dystrophy
Länkar:	https://journals.lww.com/10.4103/IJO.IJO_3138_23
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