Retinal dimples in a case of adult-onset methylmalonic acidemia with homocystinuria: A new finding.

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: F Contieri, E Cosano-Palma, S Del Valle-Buzón, M A Espiñeira-Periñán, B González-Jáuregui, F López-Herrero, C Rodríguez-Fernández, J L Sánchez-Vicente, M Sotomayor-Toribio, J Suárez-Pérez, A Talego-Sancha

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: France : Journal francais d'ophtalmologie , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 551662

PURPOSE: To describe the ophthalmic clinical manifestations in a woman with adult-onset methylmalonic acidemia with homocystinuria, including retinal dimples as a new retinal finding. METHODS: Observational case report of a 25-year-old woman. Clinical manifestations and diagnostic tests are described. RESULTS: Methylmalonic acidemia with homocystinuria is a multisystem disease, severe and occasionally lethal, with a wide clinical spectrum ranging from fetal/neonatal disease to a benign disorder starting in adulthood. The patient in this report was referred for a routine evaluation. Retinal photography, fluorescein angiography, optical coherence tomography (OCT), en-face OCT angiography, visual fields, and electroretinography were performed. OCT, including en-face mode, revealed retinal dimples, a finding not previously described. Retinal dimples corresponded to OCT angiography flow deficits at the level of the deep vascular plexus. CONCLUSIONS: Retinal dimples might be a consequence of retinal ischemia secondary to microangiopathic disease. Ocular findings remained stable during the 4-year follow-up.
Tạo bộ sưu tập với mã QR

THƯ VIỆN - TRƯỜNG ĐẠI HỌC CÔNG NGHỆ TP.HCM

ĐT: (028) 36225755 | Email: tt.thuvien@hutech.edu.vn

Copyright @2024 THƯ VIỆN HUTECH