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.
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.
Authors: Margaret M McGovern; Melissa P Wasserstein; Roberto Giugliani; Bruno Bembi; Marie T Vanier; Eugen Mengel; Scott E Brodie; David Mendelson; Gwen Skloot; Robert J Desnick; Noriko Kuriyama; Gerald F Cox Journal: Pediatrics Date: 2008-07-14 Impact factor: 7.124
Authors: Bill X Wu; Jie Fan; Nicholas P Boyer; Russell W Jenkins; Yiannis Koutalos; Yusuf A Hannun; Craig E Crosson Journal: PLoS One Date: 2015-07-13 Impact factor: 3.240