Norrie disease in a family with a manifesting female carrier.
OBJECTIVE
To show that Norrie disease can occur in a girl and to describe her ophthalmologic and genetic features.


METHODS
Amplification of DNA polymerase chain reaction and sequencing of asymmetric polymerase chain reaction for exon 3 were performed on the blood specimen obtained from a girl born with bilateral retinal detachments.


METHODS
A female child with bilateral retinal detachment who had 2 uncles in whom Norrie disease had already been diagnosed.


RESULTS
The child had a mutation in the third exon (T776-->A; Ile 123-->Asn) identical to the mutation found in her uncles.


CONCLUSIONS
Norrie disease can occur in girls. The most likely explanation is nonrandom or unfavorable X inactivation, although timing of development of the peripheral retina and its blood supply could render it vulnerable to effects of the mutant allele at a critical developmental phase.
Sims
K B
KB
Developmental Neurogenetics Laboratories, Massachusetts General Hospital, Charlestown, USA.
Irvine
A R
AR
Good
W V
WV
D001766:Blindness / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics*; D012163:Retinal Detachment / Q000235:genetics* / Q000473:pathology; D012164:Retinal Diseases / Q000235:genetics* / Q000473:pathology; D014960:X Chromosome