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Ophthalmology. 2004 Jul;111(7):1424-7.

Ocular manifestations of Niemann-Pick disease type B.

Author information

1
Department of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA. margaret.mcgovern@mssm.edu

Abstract

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.

PMID:
15234149
DOI:
10.1016/j.ophtha.2003.10.034
[Indexed for MEDLINE]

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