Typical ocular coloboma affects three generations in one family.
We found bilateral colobomas of the iris, choroid, retina, and optic nerve head in a son, mother, and grandmother in one pedigree. This represents a rare incidence of typical ocular coloboma in three generations.
Hayasaka
S
S
Department of Ophthalmology, Shimane Medical University, Izumo, Japan.
Furuse
N
N
Noda
S
S
Setogawa
T
T
D000328:Adult; D002829:Choroid / Q000002:abnormalities / Q000473:pathology; D003103:Coloboma / Q000235:genetics* / Q000473:pathology; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009898:Optic Disk / Q000002:abnormalities / Q000473:pathology; D010375:Pedigree; D012160:Retina / Q000002:abnormalities / Q000473:pathology