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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 complex glycerol kinase deficiency (Duchenne-type or Becker's muscular dystrophy, glycerol kinase deficiency, and...

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PMID: 8240114
DOI: 10.1001/archopht.1993.01090110124037

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