Literature DB >> 1495771

Aspects of albinism.

A Kriss1, I Russell-Eggitt, C M Harris, I C Lloyd, D Taylor.   

Abstract

Genetic, clinical and electrophysiological aspects of albinism are described. Emphasis is placed on electrophysiological features which help to distinguish albinism from other clinical conditions, and on stimulating and recording factors which can affect the clarity of VEP results.

Mesh:

Year:  1992        PMID: 1495771     DOI: 10.3109/13816819209087609

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN: 0167-6784


  11 in total

Review 1.  Oculocutaneous albinism.

Authors:  S Biswas; I C Lloyd
Journal:  Arch Dis Child       Date:  1999-06       Impact factor: 3.791

2.  The clinical features of albinism and their correlation with visual evoked potentials.

Authors:  S E Dorey; M M Neveu; L C Burton; J J Sloper; G E Holder
Journal:  Br J Ophthalmol       Date:  2003-06       Impact factor: 4.638

3.  VEP characteristics in children with achiasmia, in comparison to albino and healthy children.

Authors:  Jelka Brecelj; Maja Sustar; Nuška Pečarič-Meglič; Miha Skrbec; Branka Stirn-Kranjc
Journal:  Doc Ophthalmol       Date:  2012-02-21       Impact factor: 2.379

4.  Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene.

Authors:  L Lauronen; R Jalkanen; J Huttunen; E Carlsson; S Tuupanen; S Lindh; H Forsius; E-M Sankila; T Alitalo
Journal:  Br J Ophthalmol       Date:  2005-07       Impact factor: 4.638

5.  Ocular motor behaviour of monozygotic twins with tyrosinase negative oculocutaneous albinism.

Authors:  R V Abadi; E Pascal
Journal:  Br J Ophthalmol       Date:  1994-05       Impact factor: 4.638

Review 6.  Visual electrophysiology in the clinical evaluation of optic neuritis, chiasmal tumours, achiasmia, and ocular albinism: an overview.

Authors:  Jelka Brecelj
Journal:  Doc Ophthalmol       Date:  2014-06-25       Impact factor: 2.379

7.  The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times.

Authors:  Michio Sone; Seth J Orlow
Journal:  Exp Eye Res       Date:  2007-08-29       Impact factor: 3.467

8.  The uptake of gamma-aminobutyric acid and glutamate by synaptosomes from the visual cortex of albino and pigmented rabbits.

Authors:  T Burbridge; B P Choudhury; K J Collard
Journal:  J Neural Transm (Vienna)       Date:  1996       Impact factor: 3.575

Review 9.  The Many Faces of G Protein-Coupled Receptor 143, an Atypical Intracellular Receptor.

Authors:  Beatriz Bueschbell; Prashiela Manga; Anke C Schiedel
Journal:  Front Mol Biosci       Date:  2022-04-12

Review 10.  Clinical electrophysiology of the optic nerve and retinal ganglion cells.

Authors:  Oliver R Marmoy; Suresh Viswanathan
Journal:  Eye (Lond)       Date:  2021-06-11       Impact factor: 3.775

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