TY - JOUR
T1 - Ocular manifestations of Niemann-Pick disease type B
AU - McGovern, Margaret M.
AU - Wasserstein, Melissa P.
AU - Aron, Alan
AU - Desnick, Robert J.
AU - Schuchman, Edward H.
AU - Brodie, Scott E.
N1 - Funding Information:
These studies were supported in part by the National Institutes of Health (NIH), Bethesda, Maryland (research grant no.: R01 HD28607), and the NIH, National Center for Research Resources, Bethesda, Maryland (grant no.: 5 MO1 RR00071, for the Mount Sinai General Clinical Research Center). Dr Wasserstein is the recipient of a Mentored Patient-Oriented Research Career Development Award from the NIH (5 K23 RR16052). Dr Brodie is supported in part by an unrestricted grant to the Department of Ophthalmology from Research to Prevent Blindness, Inc., New York, New York.
PY - 2004/7
Y1 - 2004/7
N2 - Purpose To investigate the ocular manifestations in Niemann-Pick disease type B (NPD-B). Design Observational case series. Participants 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. Main outcome measures 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.
AB - Purpose To investigate the ocular manifestations in Niemann-Pick disease type B (NPD-B). Design Observational case series. Participants 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. Main outcome measures 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.
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U2 - 10.1016/j.ophtha.2003.10.034
DO - 10.1016/j.ophtha.2003.10.034
M3 - Article
C2 - 15234149
AN - SCOPUS:3042604514
SN - 0161-6420
VL - 111
SP - 1424
EP - 1427
JO - Ophthalmology
JF - Ophthalmology
IS - 7
ER -