Jalili syndrome

Jalili syndrome is a rare genetic condition that affects both the eyes and the teeth. It is characterized by cone-rod retinal dystrophy, which impacts the retina and can lead to vision difficulties, and amelogenesis imperfecta, a condition that results in problems with the enamel of the teeth. This combination of eye and dental issues can have a significant impact on the daily life and overall well-being of people with this condition. The condition has been linked to changes in the CNNM4 gene. Although research is ongoing, the core features of Jalili syndrome are recognized by specialists due to the distinct pattern of dental and retinal involvement. Understanding these symptoms can help guide further evaluations by healthcare professionals.

People with Jalili syndrome typically experience issues with both their eyes and their teeth. The retinal dystrophy may lead to vision challenges such as problems with night vision, color perception, and overall visual acuity. At the same time, amelogenesis imperfecta manifests as defects in the tooth enamel, which may cause dental sensitivity and other oral health issues.

Jalili syndrome is caused by changes in the CNNM4 gene. These genetic alterations affect the normal development and maintenance of both the retina and the enamel of the teeth, leading to the symptoms seen in this condition.

Information about treatment options is currently limited for this condition. Management typically involves care from dental and eye specialists to address the specific symptoms that arise.

Information about prognosis is currently limited for this condition. The outlook may vary, as the severity of dental and vision issues can differ from one individual to another.

Current research is focusing on understanding the role of the CNNM4 gene in the development of both dental and eye problems seen in Jalili syndrome. Further studies are needed to learn more about the condition and to explore potential future therapies.