Colour vision in a family with Sorsby's dystrophy

Atchison, David A. (1989) Colour vision in a family with Sorsby's dystrophy. Acta Ophthalmologica Scandinavica, 67, pp. 617-624.

Abstract

Fraser & Wallace (1971) investigated a family with Sorsby’s dystrophy, and found a high prevalence of a mild red-green colour deficiency. Using a battery of tests, I re-examined the colour vision of members of the family at risk of developing the disease. I concluded that the mild colour vision defect is classical sex linked recessive deuteranomaly occurring adventiously in the family; its high prevalence is due to its being introduced by at least 3 persons marrying into the family. Two alternative hypotheses of the colour vision deficiency are that it is an acquired disorder which is a prodromal sign of the dystrophy or that it is inherited in an autosomal dominant manner. However, these hypotheses were rejected because the colour vision deficiency had the characteristics of a typical sex linked disorder. These findings emphasise that it is important to exclude any co-existing inherited colour vision defect when defining the clinical features of any retinal dystrophy by careful evaluation of unaffected family members.

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ID Code: 4781
Item Type: Journal Article
Refereed: Yes
Additional Information: For more information or for a copy of this article contact: David A. Atchison d.atchison@qut.edu.au
Additional URLs:
Keywords: autosomal dominant, colour vision, deuteranomaly, inheritance, sex linked recessive, Sorsby's dystrophy
ISSN: 1395-3907
Subjects: Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > OPTOMETRY AND OPHTHALMOLOGY (111300)
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 1989 Blackwell Publishing
Deposited On: 15 Aug 2006 00:00
Last Modified: 15 Jan 2009 07:09

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