Traboulsi E I, Maumenee I H
Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Eye Institute, Baltimore, MD, USA.
Ophthalmic Genet. 1995 Mar;16(1):27-30. doi: 10.3109/13816819509057851.
Photoaversion is a prominent symptom of a number of infantile genetic ocular disorder such as congenital glaucoma, aniridia, albinism, and cone dystrophies including achromatopsia. Photoaversion has not been widely recognized as a clinical feature of Leber's congenital amaurosis. We present two patients who were diagnosed clinically with achromatopsia because of nystagmus, absent color vision, reduced visual acuity, and moderately severe photoaversion in the absence of anterior segment abnormalities. The photopic and scotopic responses of the electroretinogram (E R G) were nonrecordable in both patients indicating involvement of both cone and rod systems. The diagnosis was then revised to one of Leber's congenital amaurosis. Photoaversion can be a prominent clinical feature in some patients with Leber's congenital amaurosis. The E R G clinches the diagnosis. These patients may constitute a distinct genetic subtype of the disease and molecular genetic studies will help resolve this issue.
畏光症是多种婴儿遗传性眼部疾病的突出症状，如先天性青光眼、无虹膜症、白化病以及包括全色盲在内的视锥细胞营养不良。畏光症尚未被广泛认可为莱伯先天性黑蒙的临床特征。我们报告了两名患者，他们因眼球震颤、色盲、视力下降以及在无前节异常情况下出现中度严重畏光症而被临床诊断为全色盲。两名患者的视网膜电图（ERG）明视和暗视反应均无法记录，表明视锥和视杆系统均受累。随后诊断被修订为莱伯先天性黑蒙。畏光症可能是一些莱伯先天性黑蒙患者的突出临床特征。ERG有助于确诊。这些患者可能构成该疾病的一个独特遗传亚型，分子遗传学研究将有助于解决这一问题。
