QR код

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...

Повний опис

Збережено в:
Автори: Ahana Sen, Sanatombi Thounaojam, Bristi Majumdar, Urvashi Kala, Sampurna Bhattacharyya, Ruchira Chowdhury, Amrita Pradhan, Surabhi Chattree, Kumar Saurabh, Rupak Roy
Формат: Artigo
Мова:Inglês
Опубліковано: Wolters Kluwer Medknow Publications 2024-04-01
Серія:Indian Journal of Ophthalmology. Case Reports
Предмети:
autosomal recessive bestrophinopathy
bestrophinopathy
genes
genetic analysis
india
interdigitation zone
macular
retinal dystrophy
verhoeff’s membrane
vitelliform dystrophy
Онлайн доступ:https://journals.lww.com/10.4103/IJO.IJO_3138_23
Теги: Додати тег
Немає тегів, Будьте першим, хто поставить тег для цього запису!

Схожі ресурси