Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.
1993; BMJ; Volume: 30; Issue: 12 Linguagem: Inglês
10.1136/jmg.30.12.1044
ISSN1468-6244
AutoresI. A. Glass, Peter Good, Michel P. Coleman, P Fullwood, M. Giles, Susan Lindsay, Andrea H. Németh, K.E. Davies, H A Willshaw, A.H.L. Fielder,
Tópico(s)Connexins and lens biology
ResumoA 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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