Article
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 1993
Pillers D A, Seltzer W K, Powell B R, Ray P N, Tremblay F, La Roche G R, Lewis R A, McCabe E R, Eriksson A W, Weleber R G
Abstract excerpt
OBJECTIVE: To determine whether abnormal configurations on electroretinogram were a consistent finding in patients with Xp21 deletion and to characterize the associated ophthalmologic phenotype. DESIGN: Case series. SETTING: University hospitals and eye institutes. PATIENTS: Five patients with co...
Topics
- Adolescent
- Albinism, Ocular
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Disorders
- Electroretinography
- Glycerol Kinase
- Humans
- Male
- Muscular Dystrophies
- Phenotype
- Retina
- Syndrome