Gyrate atrophy-like phenotype with normal plasma ornithine

Ulrich Kellner, Richard Weleber, Nancy G. Kennaway, Gerald A. Fishman, Michael H. Foerster

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Purpose: To describe the clinical characteristics of a chorioretinal disease with a gyrate atrophy-like phenotype and normal plasma ornithine. Methods: One family with three men who had progressive chorioretinal disease and three additional patients with simplex cases were examined clinically and with standard electroretinography, electrooculography, and dark adaptometry. Results: In the family, a 70-year-old man and his two sons (39 and 41 years of age) were affected. On ophthalmoscopy, sharply demarcated peripheral patches of retinal pigment epithelium and choroidal atrophy were seen to progress to the posterior pole in the father's eye. In three unrelated men (62, 70, and 80 years of age), chorioretinal atrophy was present in the mid- and far periphery. Visual acuity was normal in the two youngest of all six patients; however, electroretinogram and electrooculogram waves were reduced. Advanced visual field defects and visual acuity loss occurred in the four older patients. Electroretinogram and electrooculogram were reduced, and the dark adaptation thresholds were elevated. In all patients, serum ornithine levels were normal. Ornithine-delta-aminotransferase activity in cultured skin fibroblasts and the apparent Michaelis constant (Km) for ornithine and α-ketoglutarate were within the normal range in all patients. Conclusions: A gyrate atrophy-like phenotype can result from causes other than deficient ornithine-delta-aminotransferase. Its occurrence in three male members in two generations in one family suggests an autosomal dominant inheritance in at least some such patients.

Original languageEnglish (US)
Pages (from-to)403-413
Number of pages11
JournalRetina
Volume17
Issue number5
StatePublished - 1997

Fingerprint

Gyrate Atrophy
Ornithine
Electrooculography
Phenotype
Ornithine-Oxo-Acid Transaminase
Visual Acuity
Atrophy
Dark Adaptation
Electroretinography
Ophthalmoscopy
Retinal Pigment Epithelium
Visual Fields
Nuclear Family
Fathers
Reference Values
Fibroblasts
Skin
Serum

Keywords

  • Choroid
  • Electrooculogram
  • Electroretinogram
  • Gyrate atrophy
  • Retinal degeneration

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems

Cite this

Kellner, U., Weleber, R., Kennaway, N. G., Fishman, G. A., & Foerster, M. H. (1997). Gyrate atrophy-like phenotype with normal plasma ornithine. Retina, 17(5), 403-413.

Gyrate atrophy-like phenotype with normal plasma ornithine. / Kellner, Ulrich; Weleber, Richard; Kennaway, Nancy G.; Fishman, Gerald A.; Foerster, Michael H.

In: Retina, Vol. 17, No. 5, 1997, p. 403-413.

Research output: Contribution to journalArticle

Kellner, U, Weleber, R, Kennaway, NG, Fishman, GA & Foerster, MH 1997, 'Gyrate atrophy-like phenotype with normal plasma ornithine', Retina, vol. 17, no. 5, pp. 403-413.
Kellner U, Weleber R, Kennaway NG, Fishman GA, Foerster MH. Gyrate atrophy-like phenotype with normal plasma ornithine. Retina. 1997;17(5):403-413.
Kellner, Ulrich ; Weleber, Richard ; Kennaway, Nancy G. ; Fishman, Gerald A. ; Foerster, Michael H. / Gyrate atrophy-like phenotype with normal plasma ornithine. In: Retina. 1997 ; Vol. 17, No. 5. pp. 403-413.
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