Abdalla-Elsayed Maram Ea, Schatz Patrik, Neuhaus Christine, Khan Arif O
Jeddah Eye Hospital, Jeddah, Kingdom of Saudi Arabia.
King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
Mol Vis. 2017 Nov 13;23:778-784. eCollection 2017.
Heterozygous mutations in have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in underlying early-onset retinal dystrophy with atypical maculopathy.
Clinical examination included electroretinography and multimodal retinal imaging. Molecular genetic testing was composed of next-generation sequencing of a panel of retinal dystrophy genes.
A now 17-year-old boy presented 12 years earlier with a history of progressively poor vision since birth, nyctalopia, and early-onset retinal dystrophy with atypical maculopathy. He also had bilateral microphthalmos and a slim prepubertal appearance; growth hormone levels were within normal ranges. Next-generation sequencing of a retinal dystrophy gene panel revealed a heterozygous deletion c.485delC (p.Pro162G.Infs*24) in exon 5 of .
This second report of maculopathy associated with a heterozygous mutation in confirms that mutations in should be considered in the differential diagnosis of atypical hereditary maculopathy, with or without rod-cone dystrophy.
[基因名称]中的杂合突变与一系列眼部和垂体异常有关。我们报告了[基因名称]中一种新的杂合缺失，其为早发性视网膜营养不良伴非典型黄斑病变的潜在病因。
临床检查包括视网膜电图和多模态视网膜成像。分子遗传学检测包括对一组视网膜营养不良基因进行二代测序。
一名现年17岁的男孩12年前因自出生以来视力逐渐下降、夜盲以及早发性视网膜营养不良伴非典型黄斑病变前来就诊。他还患有双侧小眼球以及青春期前身材消瘦；生长激素水平在正常范围内。对一组视网膜营养不良基因进行二代测序显示，[基因名称]第5外显子存在杂合缺失c.485delC（p.Pro162G.Infs*24）。
这第二篇关于与[基因名称]杂合突变相关的黄斑病变的报告证实，在非典型遗传性黄斑病变（无论有无视杆 - 视锥营养不良）的鉴别诊断中应考虑[基因名称]的突变。
