[Familial congenital aniridia].
We have studied a family that has been presenting cases of congenital aniridia for three generations. A specific trace found in this family is the varied expression of the pathological gene as some members showed bilateral congenital aniridia, others showed unilateral aniridia with coloboma or just bilateral coloboma aspect. Aniridia can be found either as a "de novo" mutation in a family or as a continuous transmission between generations reproducing the dominant autosomal model. The ocular manifestations of this anomaly include: defects of the cornea, glaucoma, lens subluxations, hypoplasia of the fovea, nystagmus.
Zolog
I
I
Universitatea de Medicină şi Farmacie Timişoara.
Belengeanu
V
V
Marinca
S
S
Soim
A
A
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D000328:Adult; D015783:Aniridia / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D010375:Pedigree; D014071:Tooth Abnormalities / Q000175:diagnosis / Q000235:genetics