Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome
D. A. Pillers, W. K. Seltzer, B. R. Powell, P. N. Ray, F. Tremblay, G. R. La Roche, R. A. Lewis, E. R. McCabe, A. W. Eriksson and R. G. Weleber
Department of Pediatrics, Children's Hospital, Oregon Health Sciences University, Portland.
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 Aland Island eye disease, which appears to be an incomplete form of
congenital stationary night blindness. Linkage data place Aland 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.
