Photoaversion in leber's congenital amaurosis

Elias I. Traboulsi, Irene H. Maumenee

Research output: Contribution to journalArticlepeer-review

Abstract

Photoaversion is a prominent symptom of a number of infantile genetic ocular disorders 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 abnormatlities. The photopic and scotopic responses of the electroretinogram (ERG) 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 ERG clinches the diagnosis. These patients may constitute a distinct genetic subtype of the disease and molecular genetic studies will help resolve this issue.

Original languageEnglish (US)
Pages (from-to)27-30
Number of pages4
JournalOphthalmic genetics
Volume16
Issue number1
DOIs
StatePublished - 1995

Keywords

  • Achromatopsia
  • Leber's congenital amaurosis
  • Photoaversion
  • Photophobia
  • Retinal dystrophy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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