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Optic nerve hypoplasia: Evaluation and genetic considerations
Author(s) -
YuWaiMan P.
Publication year - 2015
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2015.0029
Subject(s) - optic nerve hypoplasia , hypoplasia , optic nerve , medicine , etiology , blindness , pediatrics , incidence (geometry) , presentation (obstetrics) , visual impairment , ophthalmology , pathology , optometry , surgery , psychiatry , physics , optics
Summary The minimum prevalence of optic nerve hypoplasia has been estimated at 1 in 10,000 and unlike other causes of childhood blindness, the incidence of this congenital disorder is still increasing in the developed world. From a practical point of view, children with optic nerve hypoplasia need to be properly evaluated given the strong association with a number of developmental brain abnormalities and potentially life‐threatening neuroendocrine dysfunction. This presentation will also review the complex aetiology and emerging genetic basis for this important cause of visual impairment in young children.