Paula and Bobby
Parents of Lillie
Albinism - ocular-recessive
What is Albinism - ocular-recessive?
Albinism - ocular-recessive is a rare disease. It is also known as Ocular albinism - recessive.
It has become increasingly likely that autosomal recessive ocular albinism might not be a separate condition. Certainly, in some cases mutations have been found in the P gene, which is known to be involved in tyrosinase positive oculocutaneous albinism, and in another study of 12 unrelated patients, mutations have been found in 2 patients in the TYR gene known to be implicated in tyrosinase negative albinism (Fukai et al.,1995). Thus recessive ocular albinism could be the mild expression of oculocutaneous albinism and not a distint disorder. In the two patients cited above, they were compound heterozygotes for a mutant allele and an allele "containing a functionally significant 'normal' tyrosinase polymorphism.". The genetic situation is compicated further by the finding of patients with the ocular albinism phenotype who have one TYR mutation and a 1bp deletion in the MITF gene which is responsible for Waardenburg syndrome type2 (Morell et al., 1997). In this family, and there have been others, both ocular albinism and Waardenburg 2 were cosegregating.Read More
* This information is courtesy of the L M D.
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What gene changes cause Albinism - ocular-recessive?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
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 - ocular-recessive?
The typical symptoms of the syndrome are:
How does someone get tested for Albinism - ocular-recessive?
The initial testing for Albinism - ocular-recessive 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.
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