Literature DB >> 666626

X-linked ocular albinism in Blacks. Ocular albinism cum pigmento.

F E O'Donnell, W R Green, J A Fleischman, G W Hambrick.   

Abstract

X-linked ocular albinism can be an unsuspected cause of congenital nystagmus in blacks. In this study, eight of ten black ocular albinos from two kindreds had nonalbinotic, moderately pigmented fundi and no transillumination of the iris. We refer to this paradoxical condition as "ocular albinism cum pigmento." The only constant ophthalmoscopic feature was a foveal hypoplasia. Biopsy of clinically normal skin to demonstrate giant pigment granules is the most accurate means of diagnosis.

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Year:  1978        PMID: 666626     DOI: 10.1001/archopht.1978.03910060023005

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  16 in total

1.  An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.

Authors:  R E Schnur; B J Trask; G van den Engh; H H Punnett; M Kistenmacher; M A Tomeo; R E Naids; R L Nussbaum
Journal:  Am J Hum Genet       Date:  1989-11       Impact factor: 11.025

2.  Clinical features of affected males with X linked ocular albinism.

Authors:  S J Charles; J S Green; J W Grant; J R Yates; A T Moore
Journal:  Br J Ophthalmol       Date:  1993-04       Impact factor: 4.638

3.  Deletion in the OA1 gene in a family with congenital X linked nystagmus.

Authors:  M Preising; J P Op de Laak; B Lorenz
Journal:  Br J Ophthalmol       Date:  2001-09       Impact factor: 4.638

4.  Vision in albinism.

Authors:  C G Summers
Journal:  Trans Am Ophthalmol Soc       Date:  1996

5.  Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.

Authors:  Alexander E Volk; Andrea Hedergott; Meliha Karsak; Christian Kubisch; Markus Preising; Sebastian Rading; Julia Fricke; Peter Herkenrath; Peter Nürnberg; Janine Altmüller; Simon von Ameln; Birgit Lorenz; Antje Neugebauer
Journal:  Hum Genet       Date:  2021-05-06       Impact factor: 4.132

6.  OA1 mutations and deletions in X-linked ocular albinism.

Authors:  R E Schnur; M Gao; P A Wick; M Keller; P J Benke; M J Edwards; A W Grix; A Hockey; J H Jung; K K Kidd; M Kistenmacher; A V Levin; R A Lewis; M A Musarella; R W Nowakowski; S J Orlow; R S Pagon; D A Pillers; H H Punnett; G E Quinn; K Tezcan; J Wagstaff; R G Weleber
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

7.  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

8.  Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.

Authors:  R E Schnur; P A Wick; C Bailey; T Rebbeck; R G Weleber; J Wagstaff; A W Grix; R A Pagon; A Hockey; M J Edwards
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025

9.  X-linked ocular albinism: a family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism.

Authors:  C Jaeger; B Jay
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

10.  A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism.

Authors:  Naihong Yan; Xuan Liao; Su-ping Cai; Changjun Lan; Yun Wang; Xiaomin Zhou; Yan Yin; Wenhan Yu; Xuyang Liu
Journal:  PLoS One       Date:  2012-08-20       Impact factor: 3.240

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