Documenta ophthalmologica. Advances in ophthalmology · 2025
Best vitelliform macular dystrophy caused by a BEST1 p.(Ser246Asn) variant coexisting with diabetic retinopathy.
СтатьяКлинический случайНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Tatemoto Yusuke, Hayashi Takaaki, Mizobuchi Kei, Den Seika, Nakano Tadashi
Аннотация
PURPOSE: To report a 42 year-old male patient with Best vitelliform macular dystrophy (BVMD) complicated by diabetic retinopathy, who harbored a missense variant in the BEST1 gene.
METHODS: Comprehensive ophthalmological examinations, including full-field electroretinography (ERG) and electrooculography (EOG), were performed. Whole exome sequencing (WES) was conducted to identify potential disease-causing variant(s), and Sanger sequencing was used for confirmation.
RESULTS: Fundus photography and fluorescein angiography revealed macular degeneration and non-proliferative diabetic retinopathy with macular leakage. Although the light peak/dark trough (Arden) ratio on EOG was relatively preserved, a reduced light rise and attenuated dark trough amplitudes were observed. ERG demonstrated normal rod and cone system function. Based on optical coherence tomography findings, the BVMD stage was classified as a stage between the Vitelliruptive and Atrophic stages in the right eye, and as the Pseudohypopyon stage in the left eye. WES identified a previously unreported BEST1 variant, c.737G > A: p.(Ser246Asn) heterozygously, confirmed by Sanger sequencing.
CONCLUSIONS: This case emphasizes the importance of EOG assessment and genetic analysis in establishing an accurate diagnosis of BVMD, particularly in patients with coexisting conditions such as diabetic retinopathy.
METHODS: Comprehensive ophthalmological examinations, including full-field electroretinography (ERG) and electrooculography (EOG), were performed. Whole exome sequencing (WES) was conducted to identify potential disease-causing variant(s), and Sanger sequencing was used for confirmation.
RESULTS: Fundus photography and fluorescein angiography revealed macular degeneration and non-proliferative diabetic retinopathy with macular leakage. Although the light peak/dark trough (Arden) ratio on EOG was relatively preserved, a reduced light rise and attenuated dark trough amplitudes were observed. ERG demonstrated normal rod and cone system function. Based on optical coherence tomography findings, the BVMD stage was classified as a stage between the Vitelliruptive and Atrophic stages in the right eye, and as the Pseudohypopyon stage in the left eye. WES identified a previously unreported BEST1 variant, c.737G > A: p.(Ser246Asn) heterozygously, confirmed by Sanger sequencing.
CONCLUSIONS: This case emphasizes the importance of EOG assessment and genetic analysis in establishing an accurate diagnosis of BVMD, particularly in patients with coexisting conditions such as diabetic retinopathy.