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

Journal article

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 observe...

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Authors: Glass, I; Good, P; Coleman, M; Fullwood, P; Giles, MG

• Publication status: Published
• Journal: Journal of medical genetics
• Volume: 30
• Issue: 12
• Pages: 1044-1050
• Publication date: 1993-12-01
• DOI: 10.1136/jmg.30.12.1044
• EISSN: 1468-6244
• ISSN: 0022-2593
• Language: English
• Keywords: Eye Diseases; Myopia; Male; Base Sequence; Molecular Sequence Data; Adult; Nystagmus, Pathologic; X Chromosome; Genetic Markers; Polymorphism, Restriction Fragment Length; Child; Middle Aged; Visual Acuity; Child, Preschool; Photoreceptor Cells; Genetic Linkage; Pedigree; Female; Humans; Night Blindness; DNA Primers; Chromosome Mapping