Lack of association of the Norrie disease gene with retinoschisis phenotype.
OBJECTIVE
It has been reported recently that mice carrying a disrupted Norrie disease gene produced alterations in the murine eye that are similar to congenital retinoschisis. Therefore, it was of interest to determine whether mutations in the Norrie disease gene can account for the disease in families with retinoschisis that do not carry mutations in the retinoschisis gene.


METHODS
The patient set comprised 5 cases of retinoschisis (1 familial and 4 sporadic), all unrelated to each other. Fundus examination of affected individuals showed foveal and peripheral schisis, and the visual acuity range was 20/40-20/60. Peripheral blood specimens were collected from affected and unaffected family members. DNA was extracted and amplified by polymerase chain reaction amplification of exons of the Norrie disease gene. The amplified products were sequenced by the dideoxy chain termination method.


RESULTS
The data revealed no disease-specific sequence alterations in the Norrie disease gene.


CONCLUSIONS
Although we cannot completely exclude the possibility of the Norrie disease gene as a candidate gene, the above results suggest that the structural and functional changes in the Norrie disease gene are not associated with clinically typical retinoschisis families that do not contain mutations in the coding regions and splice sites of the retinoschisis gene.
Shastry
B S
BS
Eye Research Institute, Oakland University, Rochester, MI 48309, USA.
Hiraoka
M
M
Trese
M T
MT
D004252:DNA Mutational Analysis; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012162:Retinal Degeneration / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014792:Visual Acuity; D014960:X Chromosome / Q000235:genetics*
D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins