Dominant inheritance of optic pits.
OBJECTIVE
To report the familial occurrence of optic pits and to screen the candidate PAX2 gene for mutations in this family.


METHODS
Clinical family study. Standard mutation analysis of the PAX2 exons.


RESULTS
Unilateral optic pits were present in three generations of one family and were inherited in an autosomal dominant fashion. No mutations in the PAX2 gene, responsible for the renal-optic coloboma syndrome, were found.


CONCLUSIONS
Unilateral optic pits may be inherited in an autosomal dominant fashion and not in association with mutation in the PAX2 gene.
Stefko
S T
ST
Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Ophthalmological Institute, USA.
Campochiaro
P
P
Wang
P
P
Li
Y
Y
Zhu
D
D
Traboulsi
E I
EI
D000293:Adolescent; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005654:Fundus Oculi; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009898:Optic Disk / Q000002:abnormalities*; D009900:Optic Nerve / Q000002:abnormalities; D009901:Optic Nerve Diseases / Q000175:diagnosis / Q000235:genetics*; D051762:PAX2 Transcription Factor; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics
D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors