Ophthalmology · 2004
Ocular manifestations of Niemann-Pick disease type B.
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McGovern Margaret M, Wasserstein Melissa P, Aron Alan, Desnick Robert J, Schuchman Edward H, Brodie Scott E
Аннотация
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.
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.