Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families.
OBJECTIVE
To examine the clinical and genetic heterogeneity of autosomal dominant optic atrophy among two unrelated central Illinois families.


METHODS
Forty-three individuals from two pedigrees had complete eye examinations. Linkage analysis was performed with microsatellite markers from the region 3q28-29.


RESULTS
Visual acuity in 21 affected individuals ranged from 20/25 to 20/800. Vision loss was more severe in males than females (P = 0.02). Color vision testing revealed generalized dyschromatopsia. Both visual acuity and color vision deteriorated with age. Linkage was established to chromosome 3q28-29 (LODmax = 4.68 for D3S2305).


CONCLUSIONS
Autosomal dominant optic atrophy linked to chromosome 3q28-29 shows intrafamilial phenotypic variation as well as sex-influenced severity in two Midwestern families.
Chen
A S
AS
Division of Genetics and Metabolism, Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL 62794-9658, USA.
Kovach
M J
MJ
Herman
K
K
Avakian
A
A
Frank
W
W
Forrester
S
S
Lin
J P
JP
Kimonis
V
V
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D007087:Illinois; D007223:Infant; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D008875:Middle Aged; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics*; D010375:Pedigree; D012737:Sex Factors