Albinism Research Today is a free monthly online journal that collates and summarizes the latest research about Albinism, including details on pigmentation, genetic trait, heritability. | ||||||||
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The key role of electrophysiology in the diagnosis of visually impaired children.van Genderen M, Riemslag F, Jorritsma F, Hoeben F, Meire F, Stilma J Bartiméus Institute for the Visually Impaired, Zeist, The Netherlands. m.v-genderen@bartimeus.nl PURPOSE: To describe the outcome of specialized electrophysiology in visually impaired children. METHODS: We carried out a retrospective evaluation of 340 electrophysiological examinations performed in 298 children over a 3-year period (2001-2003), with regard to demographic data, referral pattern, degree of compliance, and diagnostic results. Electrophysiology was performed without sedation or anaesthesia. In electroretinograms, DTL electrodes were used in combination with online selection of responses. Visual evoked potentials testing was performed with seven active occipital electrodes. RESULTS: The mean age of the children was 7 +/- 5 years; 72 (24%) of the children were mentally as well as visually impaired. Main reasons for referral were suspected posterior segment disease, abnormal visual development, unexplained low vision, high myopia, and suspected albinism. Compliance was good in 302/340 (88%), partial in 24/340 (7%), and absent in 14/340 (4%) of the examinations. Of the 326 successful procedures, 215 (66%) showed abnormal results. Tapetoretinal dystrophy (22%), opticopathy (16%), congenital stationary night blindness (13%), and cone dystrophy (11%) were the most frequently established diagnoses. Albinism was confirmed in 14 of 24 suspected patients; additionally, unsuspected misrouting was found in six. In 26 (9%) of the patients, a previously established diagnosis was changed. CONCLUSIONS: In a specialized setting, electrophysiological examinations can be performed successfully in visually impaired children. The results are essential for the final ophthalmological diagnosis and have important consequences for rehabilitation. Published 6 November 2006 in Acta Ophthalmol Scand, 84(6): 799-806.
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