Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations
Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations
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DOI：
10.1016/s0161-6420(02)01029-1
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发表时间：
2002-06-01
期刊：
影响因子：
13.7
通讯作者：
Stone, EM
中科院分区：
文献类型：
--
作者：
Grover, S;Fishman, GA;Stone, EM
目的：描述两个具有新外周蛋白/RDS突变的不相关家族的模式营养不良（PD）的非典型临床表现。设计：观察性病例报告和家族遗传学研究，回顾外周蛋白/RDS突变。参与者：两个PD家族的受累和未受累成员。方法：两个家族的先证者以及其他家族成员接受了眼科评估，包括裂隙灯生物显微镜检查，压平眼压计和散瞳眼底检查。适当时，进行Goldmann视野和荧光素血管造影。从受影响的和选定的未受影响的家庭成员的DNA analysis.Results的血液样本，家庭1的先证者有一个急性发作的视力下降和黄色病变，出现炎症性黄斑。然而，急性病变的消退最终导致PD更典型的眼底变化。此外，先证者的妹妹表现出更多的经典外观PD病变。外周蛋白/RDS基因序列变异的筛选显示2-bp缺失，导致受影响的家族成员在密码子290处发生翻译移码。先证者的父亲显示了这种序列变异，但没有黄斑病变。家系2的先证者无症状，眼底表现与黄斑眼底相似。患者视力正常，荧光素血管造影未显示“暗脉络膜”。分子筛选结果显示，Gln 331停止变异的外周/RDS基因。结论：我们描述了两个新的突变外周/RDS基因在两个不相关的家庭与PD。临床医生应认识到PD患者可能出现的非典型特征。PD的疑似诊断可以通过外周蛋白/RDS基因突变的鉴定来证实。在孤立的家庭成员与PD，在这个基因的突变可能会发生，即使在没有临床上可辨别的黄斑病变。眼科学2002;109：1110-1117（C）2002，美国眼科学会。
Purpose: To describe the atypical clinical presentations of pattern dystrophy (PD) in two unrelated families with novel peripherin/RDS mutations.Design: Observational case reports and family genetic study with review of peripherin/RDS mutations.Participants: Affected and unaffected members of two families with PD.Methods: The probands of two families, as well as other family members, underwent an ophthalmologic assessment including slit-lamp biomicroscopy, applanation tonometry, and a dilated fundus examination. Goldmann visual fields and fluorescein angiography were performed, wherever appropriate. Blood samples were obtained from affected and selected unaffected members of the families for DNA analysis.Results; The proband of family 1 had an acute onset of decreased vision and a yellowish lesion in both maculae that appeared inflammatory. However, resolution of the acute lesion ultimately resulted in fundus changes more typical for PD. Moreover, the proband's sister showed more classic-appearing PD lesions. Screening of the peripherin/RDS gene for sequence variations showed a 2-bp deletion, resulting in a translational frameshift at codon 290 in affected members of the family. The proband's father, who showed this sequence variation, did not have a macular lesion. The proband of family 2 was asymptomatic and showed a fundus phenotype similar to fundus flavimaculatus. The patient had normal visual acuity and did not demonstrate a "dark choroid" on fluorescein angiography. Molecular screening showed a Gln331 stop variation in the peripherin/RDS gene.Conclusions: We describe two novel mutations in the peripherin/RDS gene in two unrelated families with PD. Clinicians should recognize the atypical features that may occur in patients with PD. A suspected diagnosis of PD may be confirmed by the identification of a mutation in the peripherin/RDS gene. In isolated family members with PD, a mutation in this gene may occur even in the absence of a clinically discernible macular lesion. Ophthalmology 2002;109:1110-1117 (C) 2002 by the American Academy of Ophthalmology.