Literature DB >> 21397808

Albinism for the busy clinician.

Alex V Levin1, Eliza Stroh.   

Abstract

Albinism is a group of disorders characterized principally by its ophthalmic features with or without systemic manifestations. Persons with albinism manifest a wide variety of phenotypes and limited number of genotypes. Modern molecular genetics has encouraged a new classification and understanding of the subtypes of these disorders. In addition to the ocular and systemic manifestations, ophthalmologists must be familiar with the specific visual needs and psychological challenges of these individuals as well as those of their families.
Copyright © 2011 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

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Year:  2011        PMID: 21397808     DOI: 10.1016/j.jaapos.2010.10.012

Source DB:  PubMed          Journal:  J AAPOS        ISSN: 1091-8531            Impact factor:   1.220


  9 in total

1.  Aberrant visual pathway development in albinism: From retina to cortex.

Authors:  Sarim Ather; Frank Anthony Proudlock; Thomas Welton; Paul S Morgan; Viral Sheth; Irene Gottlob; Rob A Dineen
Journal:  Hum Brain Mapp       Date:  2018-12-04       Impact factor: 5.038

2.  [Hermansky-Pudlak syndrome].

Authors:  A Atili; J Lübke; M Shoukier; M P Schittkowski
Journal:  Ophthalmologe       Date:  2013-02       Impact factor: 1.059

3.  N-Ethylmaleimide-Sensitive Factor b (nsfb) Is Required for Normal Pigmentation of the Zebrafish Retinal Pigment Epithelium.

Authors:  Nicholas J Hanovice; Christina M S Daly; Jeffrey M Gross
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-11       Impact factor: 4.799

Review 4.  Blurring the boundaries of vision: novel functions of intrinsically photosensitive retinal ganglion cells.

Authors:  Anna Matynia
Journal:  J Exp Neurosci       Date:  2013-09-03

5.  Brown's syndrome with ocular albinism: Case report of a rare presentation and literature review.

Authors:  Soumya Nambiar; Srikanth Ramasubramanian; Meenakshi Swaminathan
Journal:  Oman J Ophthalmol       Date:  2015 May-Aug

6.  Effects of spectacles and telescopes on visual function in students with oculocutaneous albinism.

Authors:  Siddeeqa Jhetam; Khathutshelo P Mashige
Journal:  Afr Health Sci       Date:  2020-06       Impact factor: 0.927

7.  Phenotypic variations in ocular features among siblings with oculocutaneous albinism.

Authors:  Manjushree Bhate; Sakshi Lalwani; Subhabrata Chakrabarti
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969

8.  Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

Authors:  Yun Wang; Zhi Wang; Mengping Chen; Ning Fan; Jie Yang; Lu Liu; Ying Wang; Xuyang Liu
Journal:  PLoS One       Date:  2015-04-28       Impact factor: 3.240

9.  Melanosomes in pigmented epithelia maintain eye lens transparency during zebrafish embryonic development.

Authors:  Masanari Takamiya; Feng Xu; Heikki Suhonen; Victor Gourain; Lixin Yang; Nga Yu Ho; Lukas Helfen; Anne Schröck; Christelle Etard; Clemens Grabher; Sepand Rastegar; Günther Schlunck; Thomas Reinhard; Tilo Baumbach; Uwe Strähle
Journal:  Sci Rep       Date:  2016-05-04       Impact factor: 4.379

  9 in total

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