Resumo

IBANEZ-GARCIA, Ainsa; GISMERO-MORENO, Saturnino  e  GONZALEZ ESCOBAR, Ana B.. Monocular nystagmus as the presenting sign of Bardet-Biedl syndrome: diagnosis and treatment. Rev. mex. oftalmol [online]. 2020, vol.94, n.3, pp.143-147.  Epub 25-Jun-2021. ISSN 2604-1227.  https://doi.org/10.24875/rmo.m19000072.

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Other ocular manifestations of BBS include nystagmus, high astigmatism, strabismus, glaucoma and cataracts. We report the case of a 17-year-old female with acquired monocular nystagmus and oscillopsia with distressing ocular discomfort. She was unsuccessfully treated with clonazepam and memantine, and experienced a pronounced and rapid visual loss, which resulted in referral to our department. After a comprehensive anamnesis and examination, BBS was diagnosed. Nystagmus was successfully treated with botulinum toxin, followed by large recessions of all four horizontal recti that resulted in complete resolution of oscillopsia.

Palavras-chave : Monocular nistagmus; Bardet-Biedl syndrome; Atypical retinitis pigmentosa; Cone-rod distrophy; Botulinum toxin for nystagmus; Nystagmus surgery; Oscillopsia.

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