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Evelyn Longhin, Marco Vinciati, Iveta Cermakova, Gloria Zabeo, Enrica Convento, Iva A Fregona, Raffaele Parrozzani, Edoardo Midena; Final versus referral diagnosis of visual impairment in a tertiary low vision rehabilitation centre for children. Invest. Ophthalmol. Vis. Sci. 2014;55(13):6104. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
To compare the final diagnosis of the cause of low vision in children attending a tertiary rehabilitation centre for visually impaired children versus referring ophthalmological diagnosis.
Retrospective review of clinical charts of all (theoretically) visually impaired children referred to the Robert Hollman Foundation (RHF), a tertiary rehabilitation centre for visually impaired children, between January 2010 and June 2011. The following clinical data were analysed: entry diagnosis made by the referral ophthalmologist; final clinical diagnosis made at RHF based on a complete ophthalmic evaluation, including: best corrected visual acuity (preferential looking test, Lea symbols or EDTRS chart according to children’s age and cooperation) and, when necessary, optical coherence tomography, ultrasounds, visual evoked potentials, full field electroretinography and fluorescein angiography.
Ninety-two consecutive children with a mean age of 2.37±1.98 years (range: 0-9 years) were included. A full referral diagnosis was retrieved in 76 cases (82.6%), including: cerebral visual impairment (CVI) (17.3%), retinopathy of prematurity (ROP: 17.3%), hereditary retinal diseases (13.3%), nystagmus (10.7%), systemic syndromes involving the eye (9.3%), congenital cataract (8%), optic nerve atrophy (8%) and other rarer diseases (16.1%). In the remaining 17.4% (16 children) a precise referral diagnosis was unavailable (indeterminate suspected visual impairment). Final clinical diagnosis made at RHF was: normal visual function in 8.7%, CVI in 30.4%, ROP in 10.8%, hereditary retinal disease in 9.8%, optic atrophy in 6.5%, congenital cataract in 6.5%, systemic syndrome in 6.5%, nystagmus in 5.4% and other in 15.4. In 33 cases (35.9%) the diagnosis made at the RHF did not confirm the entry diagnosis, with 17 cases (18.5%) originally fully misdiagnosed.
Approximately one-third of referred visually impaired children were misdiagnosed at baseline. The activity of an ophthalmic tertiary rehabilitation centre with highly trained and experienced ophthalmologists is essential to offer a precise diagnosis to visually impaired (sometimes with other deficits) children, and allows planning a tailored, full rehabilitation programme, which is mandatory in childhood, when a functional visual recovery is sometimes possible.
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