Familial optic atrophy with sex-influenced severity. A new variety of autosomal-dominant optic atrophy?
A family is described with 20 members in three successive generations affected by optic atrophy without other ocular or extraocular manifestations. The anomaly was transmitted as an autosomal-dominant character. There was a clearly bimodal distribution of severity: 4 male patients complained of severe impairment of vision since childhood while 16 other subjects (7 males and 9 females) were completely asymptomatic. This family could be an example of a new variety of autosomal dominant optic atrophy characterized by sex-influenced severity.
Gorgone
G
G
Li Volti
S
S
Cavallaro
N
N
Conti
L
L
Profeta
G M
GM
Mollica
F
F
D000293:Adolescent; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003118:Color Perception; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D009896:Optic Atrophy / Q000235:genetics*; D010375:Pedigree; D012737:Sex Factors; D014794:Visual Fields