Autosomal dominant optic atrophy and congenital deafness

Autosomal dominant optic atrophy and congenital deafness (also known as optic atrophy with hearing loss, or Konigsmark syndrome) is a rare genetic disorder characterized by the combination of progressive visual loss due to optic nerve atrophy and sensorineural hearing impairment that is present from birth or early childhood. The condition primarily affects two sensory systems: the visual system, through degeneration of the optic nerve leading to reduced visual acuity, color vision deficits, and visual field loss; and the auditory system, through sensorineural deafness that can range from moderate to severe. The optic atrophy typically manifests as pallor of the optic disc observed on fundoscopic examination, and visual deterioration may be progressive over time. This condition follows an autosomal dominant inheritance pattern, meaning that a single copy of the altered gene inherited from one affected parent is sufficient to cause the disorder. Each child of an affected individual has a 50% chance of inheriting the condition. The molecular genetic basis of this specific entity remains incompletely characterized, and it should be distinguished from other syndromic forms of optic atrophy such as Wolfram syndrome or the more common Kjer-type autosomal dominant optic atrophy (OPA1-related). There is currently no curative treatment available. Management is supportive and multidisciplinary, involving regular ophthalmologic monitoring, low-vision aids, hearing aids or cochlear implants for hearing rehabilitation, and genetic counseling for affected families.

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