<abstract xmlns="http://www.w3.org/1999/xhtml"><p> We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular albinism and oculocutaneous albinism. Ocular albinism has X-linked recessive inheritance, with a prevalence that varies from 1/40000 to 1/1000000, and is caused by mutations in the GPR143 and CACNA1F genes. Oculocutaneous albinism has autosomal recessive inheritance, with an overall prevalence of 1/17000, and is caused by mutations in the TYR, OCA2, TYRP1, SLC45A2, SLC24A5 and C10orf11 genes. Clinical diagnosis involves ophthalmological examination, testing of visually evoked potentials (VEP) and electrophysiological testing (ERG). The genetic test is useful for confirming diagnosis, differential diagnosis, for couple risk assessment and access to clinical trials.</p></abstract>

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular albinism and oculocutaneous albinism. Ocular albinism has X-linked recessive inheritance, with a prevalence that varies from 1/40000 to 1/1000000, and is caused by mutations in the GPR143 and CACNA1F genes. Oculocutaneous albinism has autosomal recessive inheritance, with an overall prevalence of 1/17000, and is caused by mutations in the TYR, OCA2, TYRP1, SLC45A2, SLC24A5 and C10orf11 genes. Clinical diagnosis involves ophthalmological examination, testing of visually evoked potentials (VEP) and electrophysiological testing (ERG). The genetic test is useful for confirming diagnosis, differential diagnosis, for couple risk assessment and access to clinical trials.

Genetic testing for ocular albinism and oculocutaneous albinism

The EuroBiotech Journal

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

{"article-title":"Genetic testing for ocular albinism and oculocutaneous albinism"}

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular albinism and...

Genetic testing for ocular albinism and oculocutaneous albinism

Publié en ligne: 27 oct. 2017

Pages: 80 - 82

DOI: https://doi.org/10.24190/ISSN2564-615X/2017/S1.25

© 2018

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.