Pigmentation and vision: Is GPR143 in control?

Journal of Neuroscience Research
Brian S McKay

Abstract

Albinism, typically characterized by decreased melanin synthesis, is associated with significant visual deficits owing to developmental changes during neurosensory retina development. All albinism is caused by genetic mutations in a group of diverse genes including enzymes, transporters, G-protein coupled receptor. Interestingly, these genes are not expressed in the neurosensory retina. Further, regardless of cause of albinism, all forms of albinism have the same retinal pathology, the extent of which is variable. In this review, we explore the possibility that this similarity in retinal phenotype is because all forms of albinism funnel through the same final common pathway. There are currently seven known genes linked to the seven forms of ocular cutaneous albinism. These types of albinism are the most common, and result in changes to all pigmented tissues (hair, skin, eyes). We will discuss the incidence and mechanism, where known, to develop a picture as to how the mutations cause albinism. Next, we will examine the one form of albinism which causes tissue-specific pathology, ocular albinism, where the eye exhibits the retinal albinism phenotype despite near normal melanin synthesis. We will discuss a potential way to treat ...Continue Reading

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Citations

Mar 10, 2019·Pigment Cell & Melanoma Research·Helena LeeAndrew Lotery
Feb 6, 2020·International Journal of Molecular Sciences·Xuelei LaiBauke W Dijkstra
Apr 12, 2020·Cells·Anna G Figueroa, Brian S McKay
Jun 10, 2020·Journal of Cosmetic Dermatology·Hasan Öncül, Erhan Ayhan
May 13, 2020·Annual Review of Vision Science·Carol Mason, Nefeli Slavi
Aug 29, 2020·Journal of Cell Science·Tina StormClare E Futter
Feb 8, 2021·Trends in Ecology & Evolution·M E McNamaraA Roulin
Mar 19, 2021·Frontiers in Cell and Developmental Biology·Xiao-Fang WangHuan-Yun Yu
Aug 30, 2020·Progress in Retinal and Eye Research·Samantha R De SilvaOmar A Mahroo
Aug 28, 2021·International Journal of Molecular Sciences·Giancarlo IarossiLuca Buzzonetti

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