Berinstein D M, Hiraoka M, Trese M T, Shastry B S
Department of Ophthalmology, William Beaumont Hospital, Royal Oak, Mich., USA.
Ophthalmologica. 2001 Mar-Apr;215(2):132-5. doi: 10.1159/000050844.
The clinical features of Coats' disease and congenital retinoschisis (RS) are distinctly different. Therefore, finding changes consistent with Coats' disease and congenital RS in a single eye is an unusual occurrence. The following report describes two cases with a Coats' telangiectatic lesion in one region of the retina separated by normal retina and the presence of central and peripheral congenital RS. Molecular genetic analysis of the Norrie disease and RS genes failed to identify disease-causing or polymorphic mutations in either of the genes, suggesting that the above condition is clinically and genetically a different disorder. Further studies are needed to identify the genes responsible for the above disorder and associated ocular manifestations.
科茨病和先天性视网膜劈裂症（RS）的临床特征明显不同。因此，在单眼中发现与科茨病和先天性RS一致的变化是不寻常的情况。以下报告描述了两例病例，在视网膜的一个区域存在科茨病的毛细血管扩张性病变，该区域被正常视网膜分隔，同时存在中央和周边先天性RS。对诺里病和RS基因的分子遗传学分析未能在任何一个基因中鉴定出致病或多态性突变，这表明上述情况在临床和遗传学上是一种不同的疾病。需要进一步研究以确定导致上述疾病及相关眼部表现的基因。
