Jalili syndrome

A rare genetic disorder characterized by a combination of features affecting the eyes, ears, and teeth.

Jalili Syndrome

Diagram of autosomal recessive inheritance.

Jalili syndrome is a rare genetic disorder that is inherited in an autosomal recessive pattern. It is characterized by a combination of cone-rod dystrophy and amelogenesis imperfecta. This syndrome was first described by Dr. Jalili and colleagues in 1988.

Clinical Features

Jalili syndrome primarily affects the eyes, ears, and teeth. The main clinical features include:

Cone-Rod Dystrophy

Cone-rod dystrophy is a type of retinal dystrophy that affects the photoreceptor cells in the retina. Patients with Jalili syndrome experience progressive loss of vision, starting with decreased visual acuity and color vision. Over time, this can lead to night blindness and loss of peripheral vision.

Amelogenesis Imperfecta

Amelogenesis imperfecta is a disorder affecting the development of tooth enamel. In Jalili syndrome, this manifests as hypoplastic or hypomineralized enamel, leading to discolored, fragile, and pitted teeth.

Genetics

Jalili syndrome is caused by mutations in the CNNM4 gene, which is located on chromosome 2. The CNNM4 gene is involved in the transport of magnesium ions, which is crucial for the proper development of retinal cells and enamel.

Inheritance Pattern

The syndrome follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. Parents of an affected individual are typically carriers and do not show symptoms of the disorder.

Diagnosis

Diagnosis of Jalili syndrome is based on clinical evaluation, family history, and genetic testing. Ophthalmological examination can reveal the characteristic features of cone-rod dystrophy, while dental examination can identify amelogenesis imperfecta. Genetic testing can confirm mutations in the CNNM4 gene.

Management

There is currently no cure for Jalili syndrome, and management focuses on alleviating symptoms and improving quality of life. This may include:

• Low vision aids and visual rehabilitation for vision impairment.
• Dental treatment to manage enamel defects, such as crowns or veneers.
• Regular monitoring by an ophthalmologist and dentist.

Related Pages

• Cone-rod dystrophy
• Amelogenesis imperfecta
• Autosomal recessive inheritance
• Genetic disorders