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. 1993 Dec;30(12):1044–1050. doi: 10.1136/jmg.30.12.1044

Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

I A Glass 1, P Good 1, M P Coleman 1, P Fullwood 1, M G Giles 1, S Lindsay 1, A H Nemeth 1, K E Davies 1, H A Willshaw 1, A Fielder 1, et al.
PMCID: PMC1016646  PMID: 7907666

Abstract

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.

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Selected References

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