Paula and Bobby
Parents of Lillie
Albinism, Ocular, with Sensorineural Deafness
What is Albinism, Ocular, with Sensorineural Deafness?
Albinism, Ocular, with Sensorineural Deafness is a rare disease. It is also known as OALD Waardenburg Syndrome, Type 2, With Ocular Albinism, Autosomal Recessive; Ws2-oa.
Lewis (1978) reported seven males and five females from three generations of a family with ocular albinism, vestibular abnormalities and sensorineural deafness, sometimes of congenital origin. Skin lesions containing giant pigment granules were present. Unfortunately, the mode of inheritance was not clarified. A case was reported by Tak et al., (2004), who was deaf from birth, had blue eyes, and multiple pigmented macules on her face and alms since the age of 8 years. Fundoscopy showed patchy hypopigmentation and pigmentary clumping with large choroidal vessels accentuated on a background of pallor and a fine network of capillary vessels at the periphery. The probands brother and father were similarly affected. Nystagmus and mild photophobia were also present.
* This information is courtesy of the L M D.
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What gene changes cause Albinism, Ocular, with Sensorineural Deafness?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
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 - 103470 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
MITF - 3p13
TYR - 11q14.3
What are the main symptoms of Albinism, Ocular, with Sensorineural Deafness?
The typical symptoms of the syndrome are:
Hypopigmentation of the skin, Giant melanosomes in melanocytes, Hypoplasia of the fovea, Visual impairment, Hypermetropia, Vestibular hypofunction, Strabismus, X-linked inheritance, Ocular albinism, Optic nerve dysplasia, Sensorineural hearing impairment, Nystagmus, Photophobia, Autosomal dominant inheritance, Multiple lentigines
How does someone get tested for Albinism, Ocular, with Sensorineural Deafness?
The initial testing for Albinism, Ocular, with Sensorineural Deafness 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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