Literature DB >> 3934778

Albinism.

P E Kinnear, B Jay, C J Witkop.   

Abstract

Albinism is the term applied to a heterogeneous group of genetically determined disorders characterized by hypopigmentation and affecting the eyes. After describing the clinical features of albinism in general, the authors discuss the various forms of oculocutaneous albinism, ocular albinism, and albinoidism that are of interest to the ophthalmologist. Emphasis is placed on the ocular features of each form. The visual pathway abnormalities and the clinical management of albinism are discussed.

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Year:  1985        PMID： 3934778     DOI： 10.1016/0039-6257(85)90077-3

Source DB:  PubMed          Journal:  Surv Ophthalmol        ISSN： 0039-6257            Impact factor:   6.048


  35 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.  Genetic mapping of X linked ocular albinism: linkage analysis in British families.

Authors:  S J Charles; A T Moore; J R Yates
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

4.  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

5.  Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.

Authors:  H Kikuchi; S Hara; S Ishiguro; M Tamai; M Watanabe
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

6.  Albino-type misrouting of the optic nerve fibers not found in dissociated vertical deviation.

Authors:  M Bach; G Kommerell
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1992       Impact factor: 3.117

7.  Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation.

Authors:  Masafumi Ohtsubo; Miho Sato; Akiko Hikoya; Katsuhiro Hosono; Shinsei Minoshima; Yoshihiro Hotta
Journal:  Jpn J Ophthalmol       Date:  2010-11       Impact factor: 2.447

8.  Chiasmal coefficient of flash and pattern visual evoked potentials for detection of chiasmal misrouting in albinism.

Authors:  J W R Pott; N M Jansonius; A C Kooijman
Journal:  Doc Ophthalmol       Date:  2003-03       Impact factor: 2.379

9.  Reduced influence of the ipsilateral ear on spatial tuning of auditory neurons in the albino superior colliculus: a knock-on effect of anomalies of the acoustic chiasm?

Authors:  Simon Grant; K Esther Binns
Journal:  Exp Brain Res       Date:  2003-06-27       Impact factor: 1.972

10.  X linked ocular albinism in Japanese patients.

Authors:  T Shiono; M Tsunoda; Y Chida; M Nakazawa; M Tamai
Journal:  Br J Ophthalmol       Date:  1995-02       Impact factor: 4.638
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