title: Photoaversion in Leber's congenital amaurosis.
abstract: 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.
authors.affiliation: Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Eye Institute, Baltimore, MD, USA.
authors.forename: E I
authors.initials: EI
authors.lastname: Traboulsi
authors.forename: I H
authors.initials: IH
authors.lastname: Maumenee
mesh_terms: D001766:Blindness / Q000151:congenital*; D002648:Child; D004596:Electroretinography; D006801:Humans; D008027:Light; D008297:Male; D015418:Optic Atrophies, Hereditary / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology / Q000503:physiopathology; D017948:Retinal Rod Photoreceptor Cells / Q000473:pathology / Q000503:physiopathology; D014786:Vision Disorders / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology