一种表现为锥体营养不良和听力损失的新型 CEP78 变体

IF 0.9 4区医学 Q4 OPHTHALMOLOGY

Ophthalmic surgery, lasers & imaging retina Pub Date : 2024-12-01 Epub Date: 2024-08-01 DOI:10.3928/23258160-20240717-01

Promie R Faruque, Baichun Hou, Jin Kyun Oh, Stephen H Tsang

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引用次数: 0

摘要

CEP78 基因突变会导致纤毛生成异常，以前曾发现该基因突变会导致锥体-杆状营养不良症（CRD），并伴有进行性感音神经性听力损失。作者描述了一例伴有感音神经性听力损失的锥体营养不良症（CD）病例，该变异先前被报道为意义不明，仅与 CRD 相关。该报告证实了该变异体的致病性，并强调了不同的表型可能与一种基因型有关。[眼科手术激光成像视网膜2024;55:XX-XX]。

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A Novel CEP78 Variant Presenting as Cone Dystrophy and Hearing Loss.

Mutations in CEP78 lead to abnormal production of cilia and have previously been identified to cause cone-rod dystrophy (CRD) with progressive sensorineural hearing loss. The authors describe a case of cone dystrophy (CD) with sensorineural hearing loss in a variant that had previously been reported to be of unknown significance and associated with CRD only. This report corroborates the pathogenicity of this variant and highlights that different phenotypes may be associated with one genotype. [Ophthalmic Surg Lasers Imaging Retina 2024;55:742-746.].

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来源期刊

Ophthalmic surgery, lasers & imaging retina OPHTHALMOLOGY-SURGERY

CiteScore

1.80

自引率

0.00%

发文量

期刊介绍： OSLI Retina focuses exclusively on retinal diseases, surgery and pharmacotherapy. OSLI Retina will offer an expedited submission to publication effort of peer-reviewed clinical science and case report articles. The front of the journal offers practical clinical and practice management features and columns specific to retina specialists. In sum, readers will find important peer-reviewed retina articles and the latest findings in techniques and science, as well as informative business and practice management features in one journal.