Two cases of unilateral cone-rod dysfunction presenting in adult females.

IF 2.6 4区医学 Q2 OPHTHALMOLOGY Documenta Ophthalmologica Pub Date : 2022-12-01 DOI:10.1007/s10633-022-09893-9

Stephanie Choi, Saagar A Pandit, Archana A Nair, Vivienne Greenstein, Steven L Galetta, Scott E Brodie

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Abstract

Purpose: To describe cases of unilateral cone-rod dysfunction presenting in two middle-aged females.

Methods: This case series highlights two middle-aged female patients with progressive visual decline in one eye. Fundus photography, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), multi-focal electroretinogram (mfERG), full-field electroretinogram(ffERG), and genetic testing were obtained.

Results: In the first patient, mfERG showed an extinguished response and ffERG demonstrated markedly reduced a-wave and b-wave amplitudes (more pronounced under photopic conditions) in the right eye. SD-OCT showed attenuation of the ellipsoid zone of the right eye. Similar findings were appreciated in the second patient. Genetic testing in the first patient identified three heterozygous variants in PRPH2, RCBTB1, and USH2A. The second patient was found to have heterozygous variants in BBS1 and ABCA4.

Conclusion: These two cases add to the literature of case reports of unilateral cone-rod and rod-cone dystrophies. However, the underlying etiology of the unilateral pattern of cone-rod dysfunction and the significance of the heterozygous mutations found in both cases remains uncertain.

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成年女性单侧锥杆功能障碍2例。

目的:描述两例中年女性单侧锥体棒功能障碍的病例。方法:本病例系列重点介绍了两例单眼进行性视力下降的中年女性患者。眼底摄影、眼底自体荧光(FAF)、光谱域光学相干断层扫描(SD-OCT)、多焦视网膜电图(mfERG)、全场视网膜电图(ffERG)和基因检测。结果:在第一例患者中，mfERG表现出熄灭反应，ffERG表现出右眼a波和b波幅度明显降低(在光性条件下更为明显)。SD-OCT显示右眼椭球区衰减。第二例患者也有类似的发现。在第一位患者的基因检测中发现了PRPH2、RCBTB1和USH2A的三个杂合变异体。第二例患者发现BBS1和ABCA4有杂合变异体。结论:这两例病例增加了单侧锥-杆和杆-锥营养不良的文献报道。然而，锥杆功能障碍单侧模式的潜在病因和在这两种情况下发现的杂合突变的意义仍然不确定。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Documenta Ophthalmologica 医学-眼科学

CiteScore

3.50

自引率

21.40%

发文量

审稿时长

>12 weeks

期刊介绍： Documenta Ophthalmologica is an official publication of the International Society for Clinical Electrophysiology of Vision. The purpose of the journal is to promote the understanding and application of clinical electrophysiology of vision. Documenta Ophthalmologica will publish reviews, research articles, technical notes, brief reports and case studies which inform the readers about basic and clinical sciences related to visual electrodiagnosis and means to improve diagnosis and clinical management of patients using visual electrophysiology. Studies may involve animals or humans. In either case appropriate care must be taken to follow the Declaration of Helsinki for human subject or appropriate humane standards of animal care (e.g., the ARVO standards on Animal Care and Use).