Ocular manifestations of Niemann-Pick disease type B.
OBJECTIVE
To investigate the ocular manifestations in Niemann-Pick disease type B (NPD-B).


METHODS
Observational case series.


METHODS
Forty-five patients (23 male and 22 female) with NPD-B from 37 unrelated families.


METHODS
Serial clinical evaluations were carried out over a 2- to 14-year period, including a complete physical examination, neurologic assessment, and ophthalmologic examination. Genotyping of the specific mutations in the acid sphingomyelinase (ASM) gene was performed when possible for genotype-phenotype correlations.


METHODS
Fundus photographs to evaluate the retina, ASM genotype, and neurologic examination findings.


RESULTS
Ophthalmoscopic examination revealed retinal stigmata in 15 of 45 patients, 3 with macular halos and 12 with cherry red maculae. Neurologic examinations did not reveal any evidence of neurodegeneration, and there was no consistent relationship between retinal findings and genotype.


CONCLUSIONS
The presence of macular halos and/or cherry red maculae is not an absolute predictor of neurodegeneration, but should prompt a thorough evaluation to determine the underlying etiology and the precise diagnosis.
McGovern
Margaret M
MM
Department of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA. margaret.mcgovern@mssm.edu
Wasserstein
Melissa P
MP
Aron
Alan
A
Desnick
Robert J
RJ
Schuchman
Edward H
EH
Brodie
Scott E
SE
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009542:Niemann-Pick Diseases / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics
D013108:Sphingomyelin Phosphodiesterase