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.
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。