Abstract：
Albinism is a group of genetic disorders characterized by general skin and retinal hypopigmentation. It is in most cases an autosomal recessive condition. Foveal hypoplasia (FH) is one of the main criteria for the diagnosis of albinism. The aim of this study was to analyze the macular profile of the parents of patients with albinism.
This study included a case series of 27 patients with albinism seen in Rothschild Foundation between April 2017 and February 2020. Spectral-domain optical coherence tomography (SD-OCT) and OCT angiography (OCT-A) were performed in every patient when possible and in every available parents. FH was graded according to Thomas\' classification based on OCT. Next generation sequencing-based gene panel testing was performed in parents and children when a FH was detected on OCT in a parent.
Twenty-seven patients with albinism were examined. Nine parents had FH based on the OCT B-scan (33%). In parents without FH based on the SD-OCT B-scan (67%), OCT-A showed a reduced avascular zone in the deep vascular plexus in 4 parents. Six parents carried variants that could explain their phenotype, including TYR R402Q hypomorphic alleles.
This study showed the presence of FH in parents of patients with albinism, and aimed to genetically explain this phenotype.
This study included a case series of 27 patients with albinism seen in Rothschild Foundation between April 2017 and February 2020. Spectral-domain optical coherence tomography (SD-OCT) and OCT angiography (OCT-A) were performed in every patient when possible and in every available parents. FH was graded according to Thomas\' classification based on OCT. Next generation sequencing-based gene panel testing was performed in parents and children when a FH was detected on OCT in a parent.
Twenty-seven patients with albinism were examined. Nine parents had FH based on the OCT B-scan (33%). In parents without FH based on the SD-OCT B-scan (67%), OCT-A showed a reduced avascular zone in the deep vascular plexus in 4 parents. Six parents carried variants that could explain their phenotype, including TYR R402Q hypomorphic alleles.
This study showed the presence of FH in parents of patients with albinism, and aimed to genetically explain this phenotype.
摘要：
未经证实：白化病是一组以皮肤和视网膜色素沉着不足为特征的遗传性疾病。在大多数情况下，它是常染色体隐性条件。中心凹发育不全(FH)是诊断白化病的主要标准之一。这项研究的目的是分析白化病患者父母的黄斑特征。
UNASSIGNED：本研究纳入了2017年4月至2020年2月在罗斯柴尔德基金会发现的27例白化病患者的病例系列。在可能的情况下，对每位患者和每位父母进行了频域光学相干断层扫描（SD-OCT）和OCT血管造影（OCT-A）。根据基于OCT的Thomas\'分类对FH进行分级。当在父母的OCT上检测到FH时，在父母和孩子中进行基于下一代测序的基因组测试。
未经授权：检查了27例白化病患者。根据OCTB扫描，9名父母患有FH（33%）。在基于SD-OCTB扫描的没有FH的父母中（67％），OCT-A显示4位父母的深血管丛无血管区减少。六个父母携带的变异可以解释他们的表型，包括TYRR402Q低态等位基因。
未经评估：这项研究表明白化病患者的父母存在FH，并旨在从基因上解释这种表型。
UNASSIGNED：本研究纳入了2017年4月至2020年2月在罗斯柴尔德基金会发现的27例白化病患者的病例系列。在可能的情况下，对每位患者和每位父母进行了频域光学相干断层扫描（SD-OCT）和OCT血管造影（OCT-A）。根据基于OCT的Thomas\'分类对FH进行分级。当在父母的OCT上检测到FH时，在父母和孩子中进行基于下一代测序的基因组测试。
未经授权：检查了27例白化病患者。根据OCTB扫描，9名父母患有FH（33%）。在基于SD-OCTB扫描的没有FH的父母中（67％），OCT-A显示4位父母的深血管丛无血管区减少。六个父母携带的变异可以解释他们的表型，包括TYRR402Q低态等位基因。
未经评估：这项研究表明白化病患者的父母存在FH，并旨在从基因上解释这种表型。
