Duane retraction syndrome with congenital deafness

Duane retraction syndrome with congenital deafness is a rare neurologic condition that affects eye movement and hearing. People with this condition experience problems with eye movement, including difficulties moving the eye outward or inward, along with unusual eye signs such as retraction of the globe and narrowing of the eye opening when trying to look inward. In addition to these eye movement issues, there is also congenital hearing loss, meaning the hearing loss is present from birth. The hearing loss occurs on the same side as the affected eye. The overall appearance of the condition can vary among people, and available information is primarily focused on the characteristic combination of eye and hearing symptoms.

Common symptoms include limited eye movements, such as difficulty with looking outward (abduction) or inward (adduction), as well as eye retraction and palpebral fissure narrowing on attempted inward movement. Additionally, congenital hearing loss, which can be present in one or both ears and occurs on the same side as the eye issues, is a key feature.

This condition is thought to arise from developmental issues affecting the cranial nerves that control eye movement and the nerves involved in hearing. Although similar disorders can have genetic origins, specific genetic causes, risk factors, or known genes have not been identified with the available information.

Treatment generally focuses on managing the symptoms. Approaches may include therapies to support eye movement and, for hearing loss, interventions such as hearing aids or other supportive measures. The specific management plan is tailored to the individual affected by this condition.

The overall outlook for people with this condition can vary. With appropriate management for both eye movement issues and hearing loss, many are able to lead active lives. However, because the condition is rare, detailed long-term outcome data is limited.

Research is ongoing to better understand the developmental mechanisms behind this condition and to improve methods for diagnosis and management. Current studies continue to explore how the combination of eye movement issues and hearing loss occurs, though information is relatively limited due to the rare nature of the disorder.