Albinism and the Eye

Williams, Susan E.

doi:10.1016/b978-0-12-813316-3.00007-6

Cited by 4 publications

(5 citation statements)

References 30 publications

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“…One individual (C1) presented with divergent strabismus which was only observed at the second evaluation ( Table 1). Strabismus is not an important factor for the clinical diagnosis of albinism but is often associated with the condition (Williams, 2018), as demonstrated by the three patients in this study with the condition.…”

Section: Discussionsupporting

confidence: 55%

“…Incorrect melanin biosynthesis affects the visual system. Ophthalmologic characteristics of albinism include decreased visual acuity (VA), iris transillumination, nystagmus, foveal hypoplasia, misrouting of nerves fibers at the optic chiasma, photophobia, strabismus, and refractive errors (Kirkwood, 2009;Williams, 2018). Visual problems influence the quality of life of individuals with albinism by hindering normal daily activities such as watching television or reading (Omar and Fantin, 2008).…”

Section: Introductionmentioning

confidence: 99%

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Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort

et al. 2020

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Oculocutaneous albinism (OCA) is a genetic disorder characterized by skin, hair, and eye hypopigmentation due to a reduction or absence of melanin. Clinical manifestations include vision problems and a high susceptibility to skin cancer. In its non-syndromic form, OCA is associated with six genes and one chromosomal region. Because OCA subtypes are not always clinically distinguishable, molecular analysis has become an important tool for classifying types of OCA, which facilitates genetic counseling and can guide the development of new therapies. We studied eight Brazilian individuals aged 1.5-18 years old with clinical diagnosis of OCA. Assessment of ophthalmologic characteristics showed results consistent with albinism, including reduced visual acuity, nystagmus, and loss of stereoscopic vision. We also observed the appearance of the strabismus and changes in static refraction over a 2-year period. Dermatologic evaluation showed that no participants had preneoplastic skin lesions, despite half of the participants reporting insufficient knowledge about skin care in albinism. Wholeexome and Sanger sequencing revealed eight different mutations: six in the TYR gene and two in the SLC45A2 gene, of which one was novel and two were described in a population study but were not previously associated with the OCA phenotype. We performed two ophthalmological evaluations, 2 years apart; and one dermatological evaluation. To the best of our knowledge, this is the first study to perform clinical followup and genetic analysis of a Brazilian cohort with albinism. Here, we report three new OCA causing mutations.

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Section: Discussionsupporting

confidence: 55%

Section: Introductionmentioning

confidence: 99%

Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort

et al. 2020

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“…The pigment produced by these cells is melanin, which plays a central role in protecting human skin and eyes from the deleterious effects of ultraviolet light (UV). Pigment cells and melanin are also required for normal development of the optic system and function of the eye ( Williams, 2018 ). Pigment cells in the skin and eyes are continually subjected to environmental stimuli including UV, visible light and chemotoxins.…”

Section: Gpr143 Functionmentioning

confidence: 99%

The Many Faces of G Protein-Coupled Receptor 143, an Atypical Intracellular Receptor

Bueschbell

Manga

Schiedel

2022

Front. Mol. Biosci.

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GPCRs transform extracellular stimuli into a physiological response by activating an intracellular signaling cascade initiated via binding to G proteins. Orphan G protein-coupled receptors (GPCRs) hold the potential to pave the way for development of new, innovative therapeutic strategies. In this review we will introduce G protein-coupled receptor 143 (GPR143), an enigmatic receptor in terms of classification within the GPCR superfamily and localization. GPR143 has not been assigned to any of the GPCR families due to the lack of common structural motifs. Hence we will describe the most important motifs of classes A and B and compare them to the protein sequence of GPR143. While a precise function for the receptor has yet to be determined, the protein is expressed abundantly in pigment producing cells. Many GPR143 mutations cause X-linked Ocular Albinism Type 1 (OA1, Nettleship-Falls OA), which results in hypopigmentation of the eyes and loss of visual acuity due to disrupted visual system development and function. In pigment cells of the skin, loss of functional GPR143 results in abnormally large melanosomes (organelles in which pigment is produced). Studies have shown that the receptor is localized internally, including at the melanosomal membrane, where it may function to regulate melanosome size and/or facilitate protein trafficking to the melanosome through the endolysosomal system. Numerous additional roles have been proposed for GPR143 in determining cancer predisposition, regulation of blood pressure, development of macular degeneration and signaling in the brain, which we will briefly describe as well as potential ligands that have been identified. Furthermore, GPR143 is a promiscuous receptor that has been shown to interact with multiple other melanosomal proteins and GPCRs, which strongly suggests that this orphan receptor is likely involved in many different physiological actions.

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“…The absence of melanin causes the decreased or complete lack of pigment which causes the skin to lack the natural protection against UV-rays, which makes people with albinism sensitive to sunlight, resulting in a high risk to suffer from skin cancer (Lookingbill et al, 1995). The lack of melanin in the eyes also causes low vision (Williams, 2018). Besides these physical impairments the lack of melanin also causes the skin, hair and eyes of people with albinism to be light of colour, which is noticeable in a population where most of the people have a darker skin-colour.…”

Section: Introductionmentioning

confidence: 99%

Contact Versus Education: An Explorative Comparison Between the Contact and Education Strategy Considering Albinism Related Stigma in Tanzanian High Schools

et al. 2021

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Albinism in Tanzania causes fierce health-related stigma. Little research has focused on the impact of stigma reduction strategies aiming to reduce albinism related stigma. Therefore, this research assessed the impact of two short video interventions among high school students in Tanzania on their attitude towards people with albinism: a contact intervention (n = 95) and an education intervention (n = 97). A mixed method design was used. Directly before and after the interventions impact was measured among all participants through the Albinism Social Distance Scale for Adolescents (ASDS-A), knowledge items, and entertainment items. After these measurements focus group discussions were conducted, 16 in total (n = 80). Both interventions caused a significant increase in the levels of correct knowledge about albinism. The education intervention entailed a significant positive change in attitude measured through the ASDS-A, whereas the contact intervention did not have a significant effect. In terms of entertainment value, the respondents were more enthusiastic about the contact intervention. The study suggests that education interventions on their own can be a successful tool in decreasing albinism related stigma. Additionally, qualitative findings show many positive outcomes for the contact intervention. Therefore, we would recommend using a combination of these two interventions, which has also proved successful in the past. However, more research on the effect of a combination of the two strategies is recommended.

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Albinism and the Eye

Cited by 4 publications

References 30 publications

Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort

Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort

The Many Faces of G Protein-Coupled Receptor 143, an Atypical Intracellular Receptor

Contact Versus Education: An Explorative Comparison Between the Contact and Education Strategy Considering Albinism Related Stigma in Tanzanian High Schools

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