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Article
November 1993

Negative-Configuration Electroretinogram in Oregon Eye DiseaseConsistent Phenotype in Xp21 Deletion Syndrome

Author Affiliations

From the Departments of Pediatrics (Drs Pillers and Powell), Molecular and Medical Genetics (Drs Pillers and Weleber), and Ophthalmology (Dr Weleber), Doernbecher Children's Hospital, Oregon Health Sciences University, Portland; the Department of Pediatrics (Dr Seltzer), University of Colorado Health Sciences Center, Denver; the Department of Genetics (Dr Ray), Hospital for Sick Children, Toronto, Ontario; the Department of Ophthalmology (Drs Tremblay and La Roche), I. W. Killam Children's Hospital, Dalhousie University, Halifax, Nova Scotia; the Departments of Ophthalmology (Dr Lewis) and Pediatrics (Drs Lewis and McCabe) and the Institute for Molecular Genetics (Drs Lewis and McCabe), Baylor College of Medicine, Houston, Tex; and the Department of Genetics (Dr Eriksson), Free University of Amsterdam, the Netherlands.

Arch Ophthalmol. 1993;111(11):1558-1563. doi:10.1001/archopht.1993.01090110124037
Abstract

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 complex glycerol kinase deficiency (Duchenne-type or Becker's muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia) and demonstrated chromosomal deletions at Xp21. Control patients were matched by age.

Main Outcome Measures:  Clinical information was obtained from medical records. Complete ophthalmologic examinations were performed. Electroretinography was performed using a Ganzfeld technique and chloral hydrate sedation.

Results:  We report the clinical features and abnormal configurations on electroretinograms of five patients with complex glycerol kinase deficiency, including follow-up studies on a previously described patient. The original patient had ocular hypopigmentation; four, strabismus; two, myopia; three, astigmatism; and one, symptomatic night blindness. All had negative configurations on scotopic electroretinograms showing a reduced-amplitude B wave in the dark-adapted state.

Conclusions:  Our original report suggested a diagnosis of Åland Island eye disease, which appears to be an incomplete form of congenital stationary night blindness. Linkage data place Åland Island eye disease and congenital stationary night blindness at Xp11, whereas our patients had deletions at Xp21. The phenotype reported here may represent the effects of a single gene defect or the compound effects of the Xp21 contiguous gene syndrome (complex glycerol kinase deficiency). The phenotype is referred to as Oregon eye disease.

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