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April 1997

Norrie Disease in a Family With a Manifesting Female Carrier

Author Affiliations

From the Developmental Neurogenetics Laboratories, Massachusetts General Hospital, Charlestown (Dr Sims); Department of Ophthalmology, University of California, San Francisco (Dr Irvine); and Department of Ophthalmology and Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio (Dr Good).

Arch Ophthalmol. 1997;115(4):517-519. doi:10.1001/archopht.1997.01100150519012

Objectives:  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.

Patient:  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.