SNP Shot: Genomic Insights

Deafness and myopia syndrome is a condition characterized by impairments in both auditory and visual functions. Individuals affected by this disorder experience hearing loss ranging from moderate to profound in both ears, which may progressively worsen. The hearing loss can be classified as sensorineural, stemming from issues within the inner ear, or as auditory neuropathy, indicating a disruption in the transmission of auditory signals from the inner ear to the brain. This hearing impairment is either present from birth (congenital) or develops in infancy, before the acquisition of language (prelingual).

In addition to hearing loss, those with deafness and myopia syndrome exhibit significant nearsightedness (high myopia). This allows for clear vision of close objects, while distant objects appear blurred. The diagnosis of myopia typically occurs in early childhood.

Inheritance:

The inheritance pattern of this condition is autosomal recessive. This implies that both copies of the relevant gene within each cell must contain mutations for the disorder to manifest. Parents of individuals with an autosomal recessive condition each carry a single copy of the mutated gene but usually do not exhibit any signs or symptoms of the condition themselves.