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

• Published in: Journal of medical genetics Vol. 30; no. 12; pp. 1044 - 1050
• Main Authors: Glass, I A, Good, P, Coleman, M P, Fullwood, P, Giles, M G, Lindsay, S, Nemeth, A H, Davies, K E, Willshaw, H A, Fielder, A
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.12.1993; BMJ; BMJ Publishing Group LTD
• Subjects: Aaland Island eye disease; Adult; Base Sequence; Biological and medical sciences; Child; Child, Preschool; Chromosome Mapping; DNA Primers - genetics; eye diseases; Eye Diseases - classification; Eye Diseases - genetics; Eye Diseases - physiopathology; Female; gene mapping; Genetic Linkage; Genetic Markers; Humans; Male; man; Medical sciences; Middle Aged; Molecular Sequence Data; Myopia - genetics; Night Blindness - congenital; Night Blindness - genetics; Night Blindness - physiopathology; Nystagmus, Pathologic - genetics; Ophthalmology; Pedigree; Photoreceptor Cells - physiopathology; Polymorphism, Restriction Fragment Length; Retinopathies; Visual Acuity - genetics; X Chromosome; Genetic mapping; Human; Eye disease; Retinopathy; Forsius Ericksson syndrome; Family study; Vision disorder; Night blindness; X-Chromosome; Congenital disease; Differential diagnostic; Genetic disease
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.30.12.1044

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.