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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