Oculofacial alterations in NBAS-SOPH like mutations: Case report.
作者信息
Nucci Francesca, Lembo Andrea, Farronato Marco, Farronato Giampietro, Nucci Paolo, Serafino Massimiliano
机构信息
Department of Biomedical, Surgical and Dental Sciences, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Department of Clinical Sciences and Community Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Multimedica, University of Milan, Eye Clinic San Giuseppe Hospital, Milan, Italy.
出版信息
Eur J Ophthalmol. 2020 Mar;30(2):NP12-NP15. doi: 10.1177/1120672119836335. Epub 2019 Mar 8.
PURPOSE
To describe the clinical features of a rare case of NBAS-SOPH-like mutations; to emphasize special aspects of the ocular and oro-facial regions.
METHODS
Case report.
CASE DESCRIPTION
We present a 5-year-old girl initially examined for her dysmorphic features, mental delay, strabismus, and high myopia. During the funduscopic examination, we observed optic atrophy with narrow thinned arterioles with the light brown reflex of the central retina. A genetic assessment revealed NBAS-SOPH like mutation. An assessment by a team of orthodontists defined typical characteristics.
CONCLUSIONS
NBAS mutations can also cause complex disease with a broad clinical spectrum ranging from isolated recurrent acute liver failure (RALF) to a multisystemic phenotype. Due to the heterogeneity of the expressions, a multispeciality approach to this situation is recommended.
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