Ocular manifestations of Niemann-Pick disease type B

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. (C) 2004 by the American Academy of Ophthalmology.