Jalili syndrome

Jalili syndrome (also known as cone-rod dystrophy with amelogenesis imperfecta) is a rare autosomal recessive disorder characterized by the combination of cone-rod dystrophy (CRD) of the retina and amelogenesis imperfecta (AI), a developmental defect of tooth enamel. The condition was first described by Jalili and Smith in 1988 in a large consanguineous Arab family. It is caused by mutations in the CNNM4 gene (also known as ACDP4), located on chromosome 2q11.2, which encodes a metal transporter protein involved in magnesium homeostasis. The retinal component of Jalili syndrome involves progressive degeneration of cone and rod photoreceptors, with cones being more severely and earlier affected. Patients typically present in early childhood with reduced visual acuity, photophobia (light sensitivity), nystagmus, and color vision defects. Over time, progressive visual impairment occurs, and electroretinography (ERG) shows diminished cone and rod responses. The dental component manifests as amelogenesis imperfecta, where tooth enamel is thin, rough, pitted, or discolored (typically yellow-brown), affecting both primary and permanent teeth. The enamel defects are usually of the hypoplastic or hypomaturation type. There is currently no cure or disease-modifying treatment for Jalili syndrome. Management is supportive and multidisciplinary, involving ophthalmologists and dentists. Visual aids, tinted lenses for photophobia, and low-vision rehabilitation can help manage the ocular symptoms. Dental treatment focuses on restorative procedures such as crowns and veneers to protect teeth and improve aesthetics and function. Genetic counseling is recommended for affected families. Regular ophthalmologic monitoring is important to track the progression of retinal degeneration.

Common questions about Jalili syndrome