Albinism, Ocular, with Late-Onset Sensorineural Deafness; OASD

What is Albinism, Ocular, with Late-Onset Sensorineural Deafness; OASD?

Albinism, Ocular, with Late-Onset Sensorineural Deafness; OASD is a rare disease. It is also known as Deafness And Ocular Albinism Ocular Albinism With Sensorineural Deafness.

Winship et al., (1984) reported seven affected males from a large Afrikaner kinship with ocular albinism and late-onset sensorineural deafness. The affected males all had pale blue eyes, a horizontal nystagmus and significant visual impairment. Fundoscopy revealed patchy hypopigmentation, pigmentary clumping with large choroidal vessels accentuated on a background of pallor and a fine network of thin vessels at the periphery. Obligate carriers had normal vision, but some showed mild fundal changes. The sensorineural deafness had an average age of onset of 45 years. Skin biopsy showed macromelanosomes in both affected males and obligate carriers. Note that in X-linked ocular albinism without deafness Charles et al., (1992) showed that 92% of obligate heterozygotes had a mud-splattered appearance of the fundus with hyperpigmented streaks, 74% had marked iris translucency, and in 84% skin biopsy showed macromelanosomes. Schnur et al., (1994) reported a four generation family with characteristic features of ocular albinism but lacking cutaneous melanin macroglobules in carriers. The abnormal gene in this family appeared to map to the ocular albinism region (see below).
The gene for X-linked ocular albinism maps to Xp22.3 (Charles et al., 1992), proximal to the steroid sulphatase locus (Bouloux et al., 1993). Winship et al., (1993) mapped the gene for ocular albinism and sensorineural deafness also to Xp22.3 in the family they reported previously (Winship et al., 1984). Bassi et al., (1995) isolated the gene for X-linked ocular albinism. It codes for a 424-amino acid protein with several putative transmembrane domains, but no similarities to previously identified proteins. Schiaffino et al., (1995) could only find mutations in a third of families where the gene appeared to map to Xp22.3. Further mutations in the OA1 gene were reported by Schnur et al., (1998).
Bassi et al., (1994) reported a patient with a 700 kb deletion at Xp22.3 who just had ocular albinism, without other phenotypic abnormalities.

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* This information is courtesy of the L M D.

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What gene changes cause Albinism, Ocular, with Late-Onset Sensorineural Deafness; OASD?

The syndrome is inherited in the following inheritance pattern/s:

X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

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.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of Albinism, Ocular, with Late-Onset Sensorineural Deafness; OASD?

The typical symptoms of the syndrome are:
X-linked inheritance, Strabismus, Giant melanosomes in melanocytes, Visual impairment, Nystagmus-induced head nodding, Depigmented fundus, Albinism, Adult onset sensorineural hearing impairment, Nystagmus, Ocular albinism, Sensorineural hearing impairment, Photophobia

How does someone get tested for Albinism, Ocular, with Late-Onset Sensorineural Deafness; OASD?

The initial testing for Albinism, Ocular, with Late-Onset Sensorineural Deafness; OASD 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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