Paula and Bobby
Parents of Lillie
What is Albinism, Oculocutaneous?
Albinism, Oculocutaneous is a rare disease. It is also known as Albinism Ii Oculocutaneous Albinism, Type Ii Oculocutaneous Albinism, Tyrosinase-positive.
* This information is courtesy of the L M D.
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What gene changes cause Albinism, Oculocutaneous?
The syndrome is inherited in the following inheritance pattern/s:
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 203200 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
OCA2 - 15q12-q13
MC1R - 16q24.3
What are the main symptoms of Albinism, Oculocutaneous?
The typical symptoms of the syndrome are:
Strabismus, Red hair, Photophobia, Autosomal recessive inheritance, Nystagmus, Ocular albinism, Optic atrophy, Freckling, Freckles in sun-exposed areas, Hypoplasia of the fovea, Visual impairment, Hypopigmentation of the fundus, Neoplasm of the skin, Melanoma, Albinism, Blue irides
How does someone get tested for Albinism, Oculocutaneous?
The initial testing for Albinism, Oculocutaneous can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.
With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.
Benefits of FDNA Telehealth
Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.
Ease of Use
Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
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Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.
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We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.