Snowflake vitreoretinal degeneration - Follow-up of the original family
Snowflake vitreoretinal degeneration - Follow-up of the original family
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DOI：
10.1016/s0161-6420(03)00828-5
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发表时间：
2003-12-01
期刊：
影响因子：
13.7
通讯作者：
Edwards, AO
中科院分区：
文献类型：
--
作者：
Lee, MM;Ritter, R;Edwards, AO
目的：研究了Snowflake家系中玻璃体视网膜变性的眼部表现、全身特征和遗传位点，并对该家系中26名成员进行了病史和检查，对该家系中的26名成员进行了临床资料的收集，并对该家系中的26名成员进行了分子遗传学研究。26名家庭成员中有13人接受了前瞻性检查。与已知的玻璃体视网膜变性位点（COL 2A 1，COL 11 A1，和瓦格纳病位点）的连锁进行了评估与短串联重复markets.Main结果措施：已知的玻璃体视网膜变性的眼部和全身功能。角膜滴液（4/5; 80%）、早发性白内障（5/6; 83%）、纤维状玻璃体变性（6/6; 100%）和周边视网膜异常（5/6; 83%），包括称为雪花的微小堆叠状沉积物（4/6; 67%）是常见的。在这些前瞻性检查的6例受试者中，有1例（17%）观察到视网膜脱离。共有14个受影响的主题被确定在家庭中，并在3（21%），视网膜脱离的发展。没有Stickler综合征典型的口面部特征、早发性听力损失和关节炎。链接到已知的vitreoretinal degeneration locusedexcluded.Conclusions：玻璃体凝胶的情况下，在晶体后空间和纤维状玻璃体变性的存在下，与胶原蛋白11 A1（COL 11 A1），但不胶原蛋白2A 1（COL 2A 1）突变的玻璃体结构报告是一致的。与染色体5 q13（瓦格纳病和糜烂性玻璃体视网膜病变）和COL 2A 1基因外显子2突变相关的玻璃体视网膜病变的特征是缺乏全身特征。周边视网膜的雪花和夜盲症，后脉络膜视网膜萎缩，牵引性视网膜脱离的情况下，不符合染色体5 q13玻璃体视网膜病变。在这个家族中发现的Fuchs角膜内皮营养不良与其他玻璃体视网膜变性的相关性以前没有报道。这些发现和排除已知的遗传位点表明雪花是一个独特的玻璃体视网膜变性。(C)2003年，美国眼科学会。
Purpose: The ocular findings, systemic features, and genetic loci distinguishing known genetic causes of vitreoretinal degenerations were studied in the original Snowflake family.Design: Prospective, comparative study and molecular genetic investigation.Participants: Members of the original snowflake vitreoretinal degeneration family.Methods: Clinical data were collected on 26 family members by history and examination. Thirteen of the 26 total family members underwent prospective examination. Linkage to known vitreoretinal degeneration loci (COL2A1, COL11A1, and the Wagner disease locus) was evaluated with short tandem repeat markers.Main Outcome Measures: Ocular and systemic features of known vitreoretinal degenerations.Results: Six of the 13 prospectively examined subjects had snowflake vitreoretinal degeneration. Corneal guttae (4/5; 80%), early onset cataract (5/6; 83%), fibrillar vitreous degeneration (6/6; 100%), and peripheral retinal abnormalities (5/6; 83%), including minute crystallinelike deposits called snowflakes (4/6; 67%), were common. Retinal detachment was seen in 1 of 6 of these prospectively examined subjects (17%). A total of 14 affected subjects were identified within the family, and in 3 (21%), retinal detachment developed. Orofacial features, early-onset hearing loss, and arthritis typical of Stickler syndrome were absent. Linkage to known vitreoretinal degeneration loci was excluded.Conclusions: The absence of vitreous gel in the retrolental space and presence of fibrillar vitreous degeneration were consistent with the vitreous structure reported for collagen 11A1 (COL11A1) but not collagen 2A1 (COL2A1) mutations. The absence of systemic features was characteristic of the vitreoretinopathies linked to chromosome 5q13 (Wagner disease and erosive vitreoretinopathy) and mutations in exon 2 of the COL2A1 gene. Snowflakes in the peripheral retina and the absence of nyctalopia, posterior chorioretinal atrophy, and tractional retinal detachment were inconsistent with the chromosome 5q13 vitreoretinopathies. The association of Fuchs' corneal endothelial dystrophy found in this family has not been reported previously in other vitreoretinal degenerations. These findings and the exclusion of known genetic loci suggest snowflake is a distinct vitreoretinal degeneration. (C) 2003 by the American Academy of Ophthalmology.