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: 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:
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Authors | 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, R G Weleber |
Journal | Archives of ophthalmology (Chicago, Ill. : 1960)
(Arch Ophthalmol)
Vol. 111
Issue 11
Pg. 1558-63
(Nov 1993)
ISSN: 0003-9950 [Print] United States |
PMID | 8240114
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
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Topics |
- Adolescent
- Albinism, Ocular
(genetics, physiopathology)
- Child
- Child, Preschool
- Chromosome Aberrations
(genetics, physiopathology)
- Chromosome Deletion
- Chromosome Disorders
- Electroretinography
- Glycerol Kinase
(deficiency, genetics)
- Humans
- Male
- Muscular Dystrophies
(enzymology, genetics, physiopathology)
- Phenotype
- Retina
(physiology)
- Syndrome
- X Chromosome
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