Jalili syndrome

Jalili Syndrome is a rare genetic disorder characterized by the combination of cone-rod dystrophy (CRD), a progressive eye disease, and amelogenesis imperfecta (AI), a condition affecting dental enamel formation. The syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Symptoms and Diagnosis

The primary symptoms of Jalili Syndrome include visual impairment and dental abnormalities. Cone-rod dystrophy leads to the deterioration of the cone and rod cells in the retina, causing reduced visual acuity, loss of color vision, and sensitivity to light. This typically begins in childhood. Amelogenesis imperfecta results in abnormal development of the dental enamel, making teeth prone to rapid wear, discoloration, and breakage.

Diagnosis of Jalili Syndrome is based on clinical examination, family history, and genetic testing. Ophthalmologic evaluation and dental examination are crucial for identifying the characteristic features of the syndrome. Genetic testing can confirm the diagnosis by identifying mutations in the CNNM4 gene, which has been linked to the condition.

Genetics

Jalili Syndrome is caused by mutations in the CNNM4 gene, located on chromosome 2q11. This gene plays a role in cellular magnesium transport and is important for the normal functioning of retinal photoreceptors and enamel formation. The autosomal recessive inheritance pattern means that both parents must carry one copy of the mutated gene to pass the disorder onto their children.

Treatment and Management

There is no cure for Jalili Syndrome, and treatment focuses on managing symptoms and improving quality of life. Regular ophthalmologic and dental care are essential for monitoring and addressing the progressive visual and dental problems. Visual aids and rehabilitation can help individuals cope with vision loss, while dental treatments, including restorations and protective crowns, can help manage the dental aspects of the syndrome.

Epidemiology

Jalili Syndrome is extremely rare, with only a few dozen cases reported in the medical literature worldwide. It was first described by Dr. Mohamed Jalili in 1988, after whom the syndrome is named.

Research Directions

Research on Jalili Syndrome is focused on understanding the molecular mechanisms underlying the disorder and developing targeted therapies. Studies on animal models and cell cultures are exploring the role of the CNNM4 gene in retinal and enamel development. Advances in gene therapy and regenerative medicine offer potential avenues for future treatments.