Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation.
OBJECTIVE
To correlate ophthalmic findings with carrier status for a severe Norrie disease (ND) gene mutation (C95F).


METHODS
Prospective interventional case series.


METHODS
Six potential carriers and 1 obligate carrier from a family harboring the mutation.


METHODS
An ophthalmologist blind to the pedigree performed a full ophthalmic examination for the 7 asymptomatic family members. A peripheral blood sample was collected from each for ND gene sequencing.


METHODS
Ophthalmic examination findings (with attention to the presence or absence of retinal findings) and results of ND gene sequencing.


RESULTS
Three carriers were identified by molecular genetics, and all 3 of them had peripheral retinal abnormality. However, 3 of the 4 genetically identified noncarriers also exhibited peripheral retinal abnormality. Two of these noncarriers with retinal findings were the offspring of a confirmed noncarrier. The genetically identified noncarrier with a normal peripheral retinal examination was the daughter of an obligate carrier.


CONCLUSIONS
The presence of peripheral retinal changes was not useful for carrier prediction in a family harboring ND. There are likely additional loci responsible for phenotypic expression.
Khan
Arif O
AO
Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. arif.khan@mssm.edu
Aldahmesh
Mohammed A
MA
Meyer
Brian
B
D003545:Cysteine; D003941:Diagnostic Techniques, Ophthalmological; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000523:psychology; D008297:Male; D008967:Molecular Biology; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010649:Phenylalanine; D011446:Prospective Studies; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics; D012720:Severity of Illness Index; D018630:Vitreoretinopathy, Proliferative / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology
D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins; D010649:Phenylalanine; D003545:Cysteine