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A five generation family with an X linked ocular disorder has been investigated. The major clinical features were reduced visual acuity, nystagmus, and myopia. Although impaired night vision was not a symptom, using psychophysical and electrophysiological testing both rod and cone function were found to be abnormal in all affected males. No abnormality was detected in carrier females. Gene location studies showed X linked transmission of a gene that maps to proximal Xp11. The findings observed in this cohort are similar to those previously reported in both congenital stationary night blindness type 2 (CSNB2) and Aland Island eye disease (AIED). This study addresses whether CSNB2 and AIED are a single entity or whether the latter is a subset of the former.

Type

Journal article

Journal

J Med Genet

Publication Date

12/1993

Volume

30

Pages

1044 - 1050

Keywords

Adult, Base Sequence, Child, Child, Preschool, Chromosome Mapping, DNA Primers, Eye Diseases, Female, Genetic Linkage, Genetic Markers, Humans, Male, Middle Aged, Molecular Sequence Data, Myopia, Night Blindness, Nystagmus, Pathologic, Pedigree, Photoreceptor Cells, Polymorphism, Restriction Fragment Length, Visual Acuity, X Chromosome