Albinism–deafness syndrome

Albinism–Deafness Syndrome

Diagram of X-linked recessive inheritance pattern

Albinism–Deafness Syndrome is a rare genetic disorder characterized by the combination of albinism and hearing loss. This condition is inherited in an X-linked recessive pattern, primarily affecting males, while females are typically carriers.

Genetics

Albinism–Deafness Syndrome is caused by mutations in genes located on the X chromosome. The most commonly affected gene is the GPR143 gene, which is responsible for encoding a protein involved in the pigmentation of the eyes and skin, as well as the development of the auditory system. The X-linked recessive inheritance pattern means that males, who have only one X chromosome, are more likely to express the symptoms of the disorder if they inherit the mutated gene.

Clinical Features

Individuals with Albinism–Deafness Syndrome exhibit a range of symptoms, including:

• Ocular Albinism: Reduced pigmentation in the iris and retina, leading to vision problems such as nystagmus, photophobia, and reduced visual acuity.
• Hearing Loss: Sensorineural hearing loss, which can vary in severity from mild to profound.
• Skin and Hair Pigmentation: Individuals may have lighter skin and hair compared to their family members, although this is not as pronounced as in other forms of albinism.

Diagnosis

Diagnosis of Albinism–Deafness Syndrome involves a combination of clinical evaluation, family history, and genetic testing. An audiogram is used to assess the degree of hearing loss, while an ophthalmologic examination can identify ocular abnormalities. Genetic testing can confirm the presence of mutations in the GPR143 gene or other related genes.

Management

Management of Albinism–Deafness Syndrome focuses on addressing the individual symptoms:

• Vision: Regular eye examinations and corrective lenses can help manage vision problems. Sunglasses or tinted lenses may reduce photophobia.
• Hearing: Hearing aids or cochlear implants can improve hearing ability. Early intervention with speech therapy is beneficial for language development.
• Skin Care: Individuals should use sunscreen to protect their skin from UV radiation due to reduced melanin.

Related Pages

• Albinism
• Hearing loss
• X-linked recessive inheritance
• Genetic disorders