Longitudinal study of the early electroretinographic changes in Alstrom's syndrome

F. Tremblay; R. G. LaRoche; S. E. Shea; M. D. Ludman

doi:10.1016/S0002-9394(14)71466-7

Longitudinal study of the early electroretinographic changes in Alstrom's syndrome

F. Tremblay, R. G. LaRoche, S. E. Shea, M. D. Ludman

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25 Citas (Scopus)

Resumen

We obtained serial electroretinograms in four patients aged between 6 months and 5 years with Alstrom's syndrome and studied the early stages of the severe retinopathy that is characteristic of that disease. The weak electroretinographic signals found at age 6 months demonstrate a severe early cone dysfunction; one year later the cone activity is undetectable. The rod component of the electroretinogram is initially normal but can rapidly deteriorate to become undetectable as early as 5 years of age. These unusual electroretinographic findings are pathognomonic of Alstrom's syndrome and different from other cone-rod dystrophies or other syndromes with similar phenotypes such as Bardet-Biedl, Laurence-Moon, and Cohen syndromes.

Idioma original	English
Páginas (desde-hasta)	657-665
Número de páginas	9
Publicación	American Journal of Ophthalmology
Volumen	115
N.º	5
DOI	https://doi.org/10.1016/S0002-9394(14)71466-7
Estado	Published - 1993
Publicado de forma externa	Sí

Nota bibliográfica

Funding Information:
Accepted for publication Dec. 10, 1992; revised manuscript received Feb. 19, 1993. From the Departments of Ophthalmology (Drs. Tremblay and LaRoche) and Pediatrics (Drs. LaRoche, Shea, and Ludman), Dalhousie University and Izaak Walton Killam Children's Hospital, Halifax, Nova Scotia, Canada. This study was supported in part by an unrestricted grant-in-aid to the Department of Ophthalmology, Izaak Walton Killam Children's Hospital, from the Canadian Military Police Fund for Prevention of Blindness. Reprint requests to Francois Tremblay, Ph, D., Department of Ophthalmology, Izaak Walton Killam Children's Hospital, P.O. Box 3070, Halifax, Nova Scotia, Canada B3J 3G9,

ASJC Scopus Subject Areas

Ophthalmology

PubMed: MeSH publication types

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

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abstract = "We obtained serial electroretinograms in four patients aged between 6 months and 5 years with Alstrom's syndrome and studied the early stages of the severe retinopathy that is characteristic of that disease. The weak electroretinographic signals found at age 6 months demonstrate a severe early cone dysfunction; one year later the cone activity is undetectable. The rod component of the electroretinogram is initially normal but can rapidly deteriorate to become undetectable as early as 5 years of age. These unusual electroretinographic findings are pathognomonic of Alstrom's syndrome and different from other cone-rod dystrophies or other syndromes with similar phenotypes such as Bardet-Biedl, Laurence-Moon, and Cohen syndromes.",

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AB - We obtained serial electroretinograms in four patients aged between 6 months and 5 years with Alstrom's syndrome and studied the early stages of the severe retinopathy that is characteristic of that disease. The weak electroretinographic signals found at age 6 months demonstrate a severe early cone dysfunction; one year later the cone activity is undetectable. The rod component of the electroretinogram is initially normal but can rapidly deteriorate to become undetectable as early as 5 years of age. These unusual electroretinographic findings are pathognomonic of Alstrom's syndrome and different from other cone-rod dystrophies or other syndromes with similar phenotypes such as Bardet-Biedl, Laurence-Moon, and Cohen syndromes.

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Longitudinal study of the early electroretinographic changes in Alstrom's syndrome

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ASJC Scopus Subject Areas

PubMed: MeSH publication types

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