Phenotype Associated With Mutation in the Recently Identified Autosomal Dominant Retinitis Pigmentosa KLHL7 Gene
Phenotype Associated With Mutation in the Recently Identified Autosomal Dominant Retinitis Pigmentosa KLHL7 Gene
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DOI：
10.1001/archophthalmol.2010.98
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发表时间：
2010-06-01
影响因子：
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通讯作者：
Andreasson, Sten
中科院分区：
文献类型：
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作者：
Hugosson, Therese;Friedman, James S.;Andreasson, Sten
目的：描述由最近发现的 KLHL7 基因突变引起的常染色体显性视网膜色素变性家族的临床表型，重点是电生理学结果。方法：从瑞典色素性视网膜炎登记册中选择来自单个家族的 11 名患者。 4 名患者在 13 至 17 年前接受过检查，并接受了进一步的眼科检查，包括视力、眼底检查、Goldmann 视野检查、全视野视网膜电图 (ERG)、多焦点 ERG 和光学相干断层扫描。通过序列分析鉴定出KLHL7突变。结果：大多数受检家庭成员的眼底均出现轻微异常。全视野 ERG 显示视锥细胞和视杆细胞功能降低，但一些患者在晚年仍保留视杆细胞反应。对 7 个家庭成员进行了随访 (T)。结论：迄今为止，在 2 个斯堪的纳维亚家庭中观察到，KLHL7 突变最近与常染色体显性视网膜色素变性相关。临床检查和长期随访证实了一种具有不同程度的视网膜感光功能障碍的表型，并且在一些家庭成员中，发病较晚并且视杆细胞功能保留到晚年。 临床相关性：生命早期有轻微视网膜异常和正常 ERG 结果的患者可能患有常染色体显性视网膜色素变性，并伴有不同程度的视觉障碍。一些晚发的患者可能会保留多年的夜视能力。
Objective: To characterize the clinical phenotype, with an emphasis on electrophysiologic findings, in a family with autosomal dominant retinitis pigmentosa caused by mutation in the recently identified KLHL7 gene.Methods: Eleven patients from a single family were selected from the Swedish retinitis pigmentosa register. Four patients had been examined 13 to 17 years earlier and underwent further ophthalmologic examination, including visual acuity, fundus inspection, Goldmann perimetry, full-field electroretinography (ERG), multifocal ERG, and optical coherence tomography. KLHL7 mutation was identified by sequence analysis.Results: In most examined family members, the fundus showed minor abnormalities. Full-field ERG demonstrated reduced cone and rod function, but rod responses were preserved in some patients late in life. Follow-up (T) in 7 family members.Conclusions: Observed in 2 Scandinavian families to date, KLHL7 mutation has recently been associated with autosomal dominant retinitis pigmentosa. Clinical examination with long-term follow-up verified a phenotype with a varying degree of retinal photoreceptor dysfunction and, in some family members, with late onset and preserved rod function until late in life.Clinical Relevance: Patients with minor retinal abnormalities and normal ERG findings early in life can harbor an autosomal dominant form of retinitis pigmentosa with a varying degree of visual impediment. Some patients with late onset may retain night vision for many years.