Simonelli F, De Crecchio G, Testa F, Nunziata G, Mazzeo S, Romano N, Cavaliere L, Rinaldi M M, Rinaldi E
Eye Clinic, II University of Naples, Italy.
Ophthalmic Genet. 1999 Jun;20(2):121-6. doi: 10.1076/opge.20.2.121.2292.
Two brothers had retinal degeneration, lens subluxation, and myopia since early life. There was no evidence of Marfan syndrome, homocystinuria, or other systemic disease. They had nystagmus, myopia, inferior dislocation of the lens, and posterior subcapsular opacities in both eyes. Fundus examination showed attenuated retinal vessels, macular atrophy with occasional pigment accumulation as clumps, and perivascular sleeves. Electroretinography revealed decreased photopic and scotopic responses. The visual fields were constricted. We believe this to be the first report of retinal degeneration with bilateral lens subluxation in a family. It appears to be inherited in an autosomal recessive fashion.
两兄弟自幼患有视网膜变性、晶状体半脱位和近视。没有证据表明患有马凡综合征、同型胱氨酸尿症或其他全身性疾病。他们双眼均有眼球震颤、近视、晶状体下脱位和后囊下混浊。眼底检查显示视网膜血管变细，黄斑萎缩，偶尔有色素团块积聚，以及血管周围袖套样改变。视网膜电图显示明视觉和暗视觉反应降低。视野缩小。我们认为这是关于一个家族中双侧晶状体半脱位伴视网膜变性的首例报道。它似乎以常染色体隐性方式遗传。
