Literature DB >> 19137348

Visually impaired children: "coming to better terms".

Frans C C Riemslag.   

Abstract

For a visually impaired child, the accurate establishment of the diagnosis provides information on the prognosis of his or her participation possibilities, including expectations about the need for care, and provides the basis for informed genetic counseling. To maximize the diagnostic value of electrophysiological testing, we use extensions of the standard ISCEV (International Society for Electrophysiology in Vision) protocols for both the ERG (electroretinogram) and the VEP (visual evoked potential). An overview of 3 years' practice of the Department of Ophthalmology of Bartiméus, presented at ISCEV in Glasgow, showed that, as a result of our electrophysiological assessment, in about 10% of the cases the diagnosis at referral had to be changed from a progressive to a stationary disorder or the reverse. It is obvious that these parameters drastically change the strategy to attain "coming to terms with the disorder". It turns out that for the visually impaired child or his or her parents as well as for the professionals in the rehabilitation institutes, the terminology used to describe a disorder can be unnecessarily alarming rather than comprehensible or even realistic. Terminology needs to be clear and understandable, with a clearcut distinction between the description of visual functions and the name of a disorder. In albinism, the bad connotation of the name of this disorder together with the finding of non-albinos with misrouting and definite albinos without it forces us to reconsider the nomenclature. With congenital stationary night blindness (CSNB), the finding of youngsters who are clearly capable of mobility at night and the fact that the term night blindness refers to a function instead of a disorder forces us even more to reconsider nomenclature.

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Year:  2009        PMID: 19137348     DOI: 10.1007/s10633-008-9161-6

Source DB:  PubMed          Journal:  Doc Ophthalmol        ISSN: 0012-4486            Impact factor:   2.379


  15 in total

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2.  Chiasmal misrouting and foveal hypoplasia without albinism.

Authors:  M M van Genderen; F C C Riemslag; J Schuil; F P Hoeben; J S Stilma; F M Meire
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3.  VEP projections in congenital nystagmus; VEP asymmetry in albinism: a comparison study.

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4.  Congenital stationary night blindness with negative electroretinogram. A new classification.

Authors:  Y Miyake; K Yagasaki; M Horiguchi; Y Kawase; T Kanda
Journal:  Arch Ophthalmol       Date:  1986-07

5.  Asymmetric visually evoked potentials in human albinos: evidence for visual system anomalies.

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7.  Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture.

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9.  Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).

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10.  Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter.

Authors:  Martin Poot; Marc J Eleveld; Ruben van 't Slot; Maria M van Genderen; Annemarie A Verrijn Stuart; Ron Hochstenbach; Frits A Beemer
Journal:  Eur J Med Genet       Date:  2007-09-09       Impact factor: 2.708

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  3 in total

1.  Assessment of night vision problems in patients with congenital stationary night blindness.

Authors:  Mieke M C Bijveld; Maria M van Genderen; Frank P Hoeben; Amir A Katzin; Ruth M A van Nispen; Frans C C Riemslag; Astrid M L Kappers
Journal:  PLoS One       Date:  2013-05-03       Impact factor: 3.240

2.  Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

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Journal:  Am J Hum Genet       Date:  2020-05-28       Impact factor: 11.025

3.  Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.

Authors:  Kate E Leahy; Tom Wright; Monika K Grudzinska Pechhacker; Isabelle Audo; Anupreet Tumber; Erika Tavares; Heather MacDonald; Jeff Locke; Cynthia VandenHoven; Christina Zeitz; Elise Heon; J Raymond Buncic; Ajoy Vincent
Journal:  Genes (Basel)       Date:  2021-02-25       Impact factor: 4.096

  3 in total

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