Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.
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.
Glass
I A
IA
Department of Pediatrics, School of Medicine, University of California, San Francisco 94143.
Good
P
P
Coleman
M P
MP
Fullwood
P
P
Giles
M G
MG
Lindsay
S
S
Nemeth
A H
AH
Davies
K E
KE
Willshaw
H A
HA
Fielder
A
A
D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D017931:DNA Primers / Q000235:genetics; D005128:Eye Diseases / Q000145:classification / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009216:Myopia / Q000235:genetics; D009755:Night Blindness / Q000151:congenital / Q000235:genetics / Q000503:physiopathology; D009759:Nystagmus, Pathologic / Q000235:genetics; D010375:Pedigree; D010786:Photoreceptor Cells / Q000503:physiopathology*; D012150:Polymorphism, Restriction Fragment Length; D014792:Visual Acuity / Q000235:genetics; D014960:X Chromosome
D017931:DNA Primers; D005819:Genetic Markers