University of Leicester
Browse
SURVOPHTreatments for Albinism Revision_CLEAN_combined.pdf (2.6 MB)

Current and Emerging Treatments for Albinism

Download (2.6 MB)
journal contribution
posted on 2020-11-23, 17:12 authored by Siyin Liu, Helen J Kuht, Emily Haejoon Moon, Gail DE Maconachie, Mervyn G Thomas
Albinism is a group of rare inherited disorders arising from impairment of melanin biosynthesis. The reduction of melanin synthesis leads to hypopigmentation of skin and eyes. A wide range of ophthalmic manifestations arise from albinism, including reduction of visual acuity, nystagmus, strabismus, iris translucency, foveal hypoplasia, fundus hypopigmentation, and abnormal decussation of retinal ganglion cell axons at the optic chiasm. Currently, albinism is incurable, and treatment aims either surgically or pharmacologically to optimize vision and protect skin; however, novel therapies that aim to directly address the molecular errors of albinism, such as L-dihydroxyphenylalanine (L-DOPA) and nitisinone, are being developed and have entered human trials though with limited success. Experimental gene-based strategies for editing the genetic errors in albinism have also met early success in animal models. The emergence of these new therapeutic modalities represents a new era in the management of albinism. We focus on the known genetic subtypes, clinical assessment, existing and emerging therapeutic options for the non-syndromic forms of albinism.

History

Author affiliation

Department of Neuroscience, Psychology and Behaviour

Version

  • AM (Accepted Manuscript)

Published in

Survey of Ophthalmology

Publisher

Elsevier BV

issn

0039-6257

Acceptance date

2020-10-21

Copyright date

2020

Available date

2021-10-29

Language

en

Usage metrics

    University of Leicester Publications

    Categories

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC