黏脂贮积症IV型的视网膜功能

Retinal function in mucolipidosis IV.

作者信息

Abraham F A, Brand N, Blumenthal M, Merin S

出版信息

Ophthalmologica. 1985;191(4):210-4. doi: 10.1159/000309589.

Abstract

In an 18-month-old girl affected by mucolipidosis IV (ML IV) with mild corneal clouding, normal retinal activity was documented by electroretinogram (ERG) and slightly delayed optic pathway conduction was revealed by visual evoked potential (VEP). Re-examination 9 years later disclosed severe retinal alterations resulting in atrophy with reduced photopic and missing scotopic ERG components and flat VEP. These fundoscopic and electrophysiologic deteriorations in ML IV suggest progressive rod-cone impairment similar to tapetoretinal dystrophy.

摘要

在一名患有IV型粘脂贮积症（ML IV）且伴有轻度角膜混浊的18个月大女孩中，视网膜电图（ERG）记录显示视网膜活动正常，视觉诱发电位（VEP）显示视路传导略有延迟。9年后复查发现严重的视网膜病变，导致萎缩，明视ERG成分减少，暗视ERG成分缺失，VEP平坦。ML IV患者的这些眼底镜和电生理变化提示存在类似于视网膜色素变性的进行性视杆-视锥细胞损害。