Variable expression of albinism within a single kindred.
We studied the albinotic characteristics in 13 members of a white family (age range, 2 to 73 years), which were graded according to severity and were correlated with visual acuity. Clinical, electrophysiologic, and biochemical characteristics of this family do not fit any known category of human albinism. The degree of heterogeneity in expression of albinotic features was unexpected. The correlation between visual acuity and nystagmus was particularly strong. The brown-haired propositus had severe skin involvement, iris transillumination, fundus hypopigmentation, and foveal hypoplasia. He had no manifest nystagmus, however, and his visual acuity was nearly normal. These observations suggest that nystagmus imposes a visual deficit beyond that related to foveal hypoplasia alone.
Castronuovo
S
S
Department of Ophthalmology, Albany Medical College, New York 12208.
Simon
J W
JW
Kandel
G L
GL
Morier
A
A
Wolf
B
B
Witkop
C J
CJ
Jenkins
P L
PL
D000293:Adolescent; D000328:Adult; D000368:Aged; D000417:Albinism / Q000145:classification / Q000235:genetics*; D002675:Child, Preschool; D005074:Evoked Potentials, Visual; D005127:Eye Color / Q000235:genetics; D005260:Female; D005654:Fundus Oculi; D015870:Gene Expression; D006198:Hair Cells, Auditory / Q000201:enzymology; D006200:Hair Color / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D014442:Monophenol Monooxygenase / Q000378:metabolism; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics; D012880:Skin Pigmentation / Q000235:genetics; D014792:Visual Acuity
D014442:Monophenol Monooxygenase