Ocular manifestations of Niemann-Pick disease type B

Ophthalmology
Margaret M McGovernS E Brodie

Abstract

To investigate the ocular manifestations in Niemann-Pick disease type B (NPD-B). Observational case series. Forty-five patients (23 male and 22 female) with NPD-B from 37 unrelated families. 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. Fundus photographs to evaluate the retina, ASM genotype, and neurologic examination findings. 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. 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.

References

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Citations

Jun 30, 2010·Journal of Inherited Metabolic Disease·Cinoo KimHyeong Gon Yu
Feb 16, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Margaret M McGovernMelissa P Wasserstein
Nov 30, 2011·International Ophthalmology Clinics·Robert J Courtney, Mark E Pennesi
Dec 24, 2009·AJR. American Journal of Roentgenology·William L SimpsonMargaret M McGovern
Oct 16, 2008·Current Opinion in Ophthalmology·Jyotirmay BiswasPrabhat Ranjan
Jan 11, 2016·Annals of the New York Academy of Sciences·Madhu M OusephQing Jun Wang
Feb 24, 2016·Clinics in Dermatology·Julio A Urrets-ZavalíaAndrzej Grzybowski
Jul 20, 2007·Pediatric Blood & Cancer·Jennifer SchneidermanMorris Kletzel
Oct 3, 2006·The Journal of Pediatrics·Melissa P WassersteinMargaret M McGovern
Jul 2, 2015·Biochemical and Biophysical Research Communications·Katharina DannhausenThomas Langmann
May 11, 2012·Molecular Genetics and Metabolism·Marc C PattersonUNKNOWN NP-C Guidelines Working Group
Jul 15, 2015·PloS One·Bill X WuCraig E Crosson
Dec 4, 2019·Pediatrics in Review·Diane HsuIona M Monteiro
Feb 24, 2017·Orphanet Journal of Rare Diseases·Margaret M McGovernOlivier Lidove
Nov 21, 2017·Translational Science of Rare Diseases·Carlos R Ferreira, William A Gahl
Feb 24, 2019·Orphanet Journal of Rare Diseases·Patryk LipińskiAnna Tylki-Szymańska
May 31, 2018·International Ophthalmology·İsmail Umut OnurMeral Mert
May 1, 2021·European Respiratory Review : an Official Journal of the European Respiratory Society·Raphaël BorieOlivier Lidove

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