Literature DB >> 19534229

Albinism and its implications with vision.

Bradley J Kirkwood1.   

Abstract

Albinism is an inherited disorder characterized by a reduction or absence of melanin in the hair, skin, and/or eyes. Tyrosinase, a major enzyme required in the production of melanin, is deficient to varying degrees in albinism. Albinism can be divided into one of two broad categories, oculocutaneous and ocular albinism, based on the involvement of hair, skin and the eyes versus only the eyes, respectively. Common ocular findings include reduced visual acuity, refractive errors, iris transillumination, nystagmus, foveal hypoplasia, fundus hypopigmentation and misrouting of optic nerve fibres at the chiasm. Eye care professionals can play an important role when tending to patients with albinism. This article will provide the reader with an overview of the etiology of albinism, the prevalence, clinical manifestations and management options.

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Year:  2009        PMID: 19534229

Source DB:  PubMed          Journal:  Insight        ISSN: 1060-135X            Impact factor:   0.878


  12 in total

1.  Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Authors:  Lucia Mauri; Emanuela Manfredini; Alessandra Del Longo; Emanuela Veniani; Manuela Scarcello; Roberta Terrana; Adriano Egidio Radaelli; Donata Calò; Giuseppe Mingoia; Antonella Rossetti; Giovanni Marsico; Marco Mazza; Giovanni Pietro Gesu; Maria Cristina Patrosso; Silvana Penco; Elena Piozzi; Paola Primignani
Journal:  J Hum Genet       Date:  2016-10-13       Impact factor: 3.172

2.  Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Authors:  Annagiusi Gargiulo; Francesco Testa; Settimio Rossi; Valentina Di Iorio; Simona Fecarotta; Teresa de Berardinis; Antonello Iovine; Adriano Magli; Sabrina Signorini; Elisa Fazzi; Maria Silvana Galantuomo; Maurizio Fossarello; Sandro Montefusco; Alfredo Ciccodicola; Alberto Neri; Claudio Macaluso; Francesca Simonelli; Enrico Maria Surace
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-03-14       Impact factor: 4.799

3.  Quality of life in patients with oculocutaneous albinism.

Authors:  Marcus Maia; Beatrice Mussio Fornazier Volpini; Gabriela Alves dos Santos; Maria Josefa Penon Rujula
Journal:  An Bras Dermatol       Date:  2015 Jul-Aug       Impact factor: 1.896

4.  Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.

Authors:  Letizia Straniero; Valeria Rimoldi; Giulia Soldà; Lucia Mauri; Emanuela Manfredini; Elena Andreucci; Sara Bargiacchi; Silvana Penco; Giovanni P Gesu; Alessandra Del Longo; Elena Piozzi; Rosanna Asselta; Paola Primignani
Journal:  J Hum Genet       Date:  2015-05-28       Impact factor: 3.172

5.  Noncoding origins of anthropoid traits and a new null model of transposon functionalization.

Authors:  Ricardo C H del Rosario; Nirmala Arul Rayan; Shyam Prabhakar
Journal:  Genome Res       Date:  2014-07-20       Impact factor: 9.043

6.  Nystagmus Does Not Limit Reading Ability in Albinism.

Authors:  Muriel Dysli; Mathias Abegg
Journal:  PLoS One       Date:  2016-07-08       Impact factor: 3.240

Review 7.  Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors.

Authors:  Carolina Reato Marçon; Marcus Maia
Journal:  An Bras Dermatol       Date:  2019-09-30       Impact factor: 1.896

8.  Computational prediction of protein-protein interactions of human tyrosinase.

Authors:  Su-Fang Wang; Sangho Oh; Yue-Xiu Si; Zhi-Jiang Wang; Hong-Yan Han; Jinhyuk Lee; Guo-Ying Qian
Journal:  Enzyme Res       Date:  2012-03-26

Review 9.  Insect prophenoloxidase: the view beyond immunity.

Authors:  Anrui Lu; Qiaoli Zhang; Jie Zhang; Bing Yang; Kai Wu; Wei Xie; Yun-Xia Luan; Erjun Ling
Journal:  Front Physiol       Date:  2014-07-11       Impact factor: 4.566

10.  Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism.

Authors:  Dorottya Pásztor; Bence Lajos Kolozsvári; Gergely Losonczy; Mariann Fodor
Journal:  Indian J Ophthalmol       Date:  2016-03       Impact factor: 1.848

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