Clinical variability in a family with X-linked retinal dystrophy and the locus at the RP3 site.

doi:10.3109/13816819109023680

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Article

Clinical variability in a family with X-linked retinal dystrophy and the locus at the RP3 site.

Ophthalmic paediatrics and genetics - 1 Jun 1991

Keith C G, Denton M J, Chen J D

Abstract excerpt

One large Australian family with X-linked retinal dystrophy was found to have extreme clinical variability in the hemizygotes. One member had the typical rod-cone disease, three had the cone-rod pattern and one had macroscopic changes in the macular area only, but with low potentials in the ERG....

Topics

Adult
Aged
Chromosome Mapping
Chromosomes, Human, Pair 21
Female
Fundus Oculi
Genetic Linkage
Genetic Variation
Humans
Macular Degeneration
Male
Middle Aged
Pedigree
Photoreceptor Cells
Pigment Epithelium of Eye
Retinitis Pigmentosa
X Chromosome

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