一真性小眼球家系的临床及视觉电生理特征

目的了解家族性真性小眼球患者的眼部临床特征及视觉电生理特征。方法家系临床研究。于北京协和医院眼科收集一真性小眼球家系，分析其遗传方式和临床特点，并对家系成员中的患者进行详细眼科检查，包括视力、眼底、眼轴长度、光学相干断层扫描（OCT）、图形视觉诱发电位（PVEP）、图形视网膜电图（PERG）、全视野视网膜电图（ERG）等检查。结果该家系连续3代共11人，5例患者，每代均有患者且存在父子传递，属于常染色体显性遗传。因其中2例患者行动不便，部分病例资料从当地医院的检查记录中获得。先证者及其他4例患者就诊时最佳矫正视力均低于0.8 LogMAR。3例患者双眼眼轴长度均较正常人短，为17.27～18.85 mm，以前房和玻璃体腔长度缩短为主。3例患者视盘小、色红。3例患者OCT检查显示黄斑中心凹厚度明显增加（大于280 µm）。视觉电生理检查显示PVEP P100峰时及幅值正常，PERG各波正常；全视野ERG显示为a波及b波振幅增高，且明显高于本院年龄相匹配的正常人。结论真性小眼球可以呈常染色体显性遗传，患者视力低于正常，黄斑中心凹增厚，而全视野ERG表现为超高型。

Clinical and electrophysiological features of a nanophthalmos pedigree

Objective To understand the clinical features and electrophysiological characteristics of familial nanophthalmos. Methods Pedigree clinical research was performed on a family with nanophthalmos. Detailed ocular examinations including visual acuity, fundus ophthalmoscopy, axial length, optical coherence tomography (OCT), pattern visual evoked potential (PVEP), pattern electroretinogram (PERG), and full-field ERG were obtained for each of the family members. Results Three consecutive generations, including five affected subjects were confirmed in this family. Affected subjects occurred in all three consecutive generations, and father to son transmission occurred, which was consistent with autosomal dominant inheritance. The best corrected visual acuity of five patients was lower than 0.8 LogMAR, and axial length of three patients ranged from 17.27 to 18.85 mm with shortening of the anterior chamber and the vitreous cavity. Three patients had a small crowded optic disc, and one had a normal fundus. OCT examination showed normal retinal morphology but increased foveal thickness (>280 μm). Visual electrophysiological tests revealed normal P100 latency and amplitude in the affected subjects. The PERG was normal but both a- and b- wave amplitudes were significantly higher than the age matched normal subjects for full-field ERG. Conclusion The nanophthalmos condition can be inherited in an autosomal dominant pattern. The presenting visual acuity was less than normal for all patients, and the foveal thickness was increased with a supernormal full-field ERG response.