Case #70: Boucher-Neuhauser Syndrome: 5 Decades of Persistence

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Author Shelby Johnson, OD, MPH, FAAO Shelby Johnson obtained her Doctor of Optometry degree from the University of California, Berkeley School of Optometry in 2017 as a member of the Beta Sigma Kappa honor society. Upon completion of a Pediatrics/Primary Care Residency also at UC Berkeley, she joined SUNY College of

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Citations Synofzik M, Schüle R, Schulze M, Gburek-Augustat J, Schweizer R, Schirmacher A, Krägeloh-Mann I, Gonzalez M, Young P, Züchner S, Schöls L, Bauer P. Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. Orphanet J Rare Dis. 2014 Apr 17;9:57.Boucher BJ, Gibberd FB. Familial

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Conclusions Long-term retinal changes in BNS have not been described in the literature, and visual acuity often does not correlate with severity of chorioretinal atrophy present.5 Subtlety of the chorioretinal findings in early stages may delay a diagnosis, so regular follow-up is necessary. Early diagnosis is beneficial to begin hormone

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Comments Due to the triad of BNS symptoms presenting at various ages, a lack of available genetic testing until the patient's adult life, and the confouding findings of vitiligo and poliosis, an accurate diagnosis of BNS was delayed in this patient.The patient's vision started declining around 20 years of age, with severe

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Genetic Testing Part 2 The patient’s genetic testing also demonstrated a heterozygous mutation in the TYRP1 gene.The TYRP1 gene provides instructions for an enzyme to help produce melanin, the pigment for color of skin, hair and eyes.4Thus, the patient developed unilateral periorbital vitiligo and poliosis as demonstrated in the images above

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Background of BNS Boucher-Neuhauser Syndrome was first described in 1969 and consists of a rare triad of deficits in the cerebellum, gonadic endocrinology, and retina.2Symptoms can vary widely and present at varying ages, but often include ataxia or vision loss experienced first, in addition to delayed puberty.3A review of BNS patients found

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