NEGATIVE-CONFIGURATION ELECTRORETINOGRAM IN OREGON EYE DISEASE - CONSISTENT PHENOTYPE IN XP21 DELETION SYNDROME

Objectives: To determine whether abnormal configurations on electroret inogram were a consistent finding in patients with Xp21 deletion and t o characterize the associated ophthalmologic phenotype. Design: Case s eries. Setting: University hospitals and eye institutes. Patients: Fiv e patients with complex glycerol kinase deficiency (Duchenne-type or B ecker's muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia) and demonstrated chromosomal deletions at Xp21. C ontrol patients were matched by age. Main Outcome Measures: Clinical i nformation was obtained from medical records. Complete ophthalmologic examinations were performed. Electroretinography was performed using a Ganzfeld technique and chloral hydrate sedation. Results: We report t he clinical features and abnormal configurations on electroretinograms of five patients with complex glycerol kinase deficiency, including f ollow-up studies on a previously described patient. The original patie nt had ocular hypopigmentation; four, strabismus; two, myopia; three, astigmatism; and one, symptomatic night blindness. All had negative co nfigurations on scotopic electroretinograms showing a reduced-amplitud e B wave in the dark-adapted state. Conclusions: Our original report s uggested a diagnosis of Aland island eye disease, which appears to be an incomplete form of congenital stationary night blindness. Linkage d ata place Aland Island eye disease and congenital stationary night bli ndness at Xp11, whereas our patients had deletions at Xp21. The phenot ype reported here may represent the effects of a single gene defect or the compound effects of the Xp21 contiguous gene syndrome (complex gl ycerol kinase deficiency). The phenotype is referred to as Oregon eye disease.