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Condition report · Ophthalmological

Jalili Syndrome

A rare inherited condition that combines a retinal dystrophy affecting central and colour vision with soft, discoloured tooth enamel (amelogenesis imperfecta). It is caused by changes in both copies of the CNNM4 gene.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Autosomal recessive

Caused by changes in both copies of CNNM4, a gene thought to transport magnesium in the retina and in the cells that form tooth enamel. Each parent usually carries one changed copy.

Signs and symptoms

Cone-rod dystrophy with reduced central and colour vision. Tooth enamel is thin and soft, being hypoplastic and hypocalcified, and some people have crossbite and advanced dental age. Developmental delay has been reported in some people.

What a diagnosis changes

Regular eye reviews with low-vision aids and tinted lenses, and specialist dental care to protect and restore teeth. Genetic counselling and carrier testing of relatives clarify recurrence risk.

Genes analysed

Also known as

cone rod dystrophy-amelogenesis imperfecta syndrome; cone-rod dystrophy amelogenesis imperfecta; cone-rod dystrophy with amelogenesis imperfecta

MONDO:0009007OMIM 217080Orphanet 1873MedGen 501210Sources: [1][2][3]

References

  1. Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H et al., 2009. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. American journal of human genetics
  2. Rattanapornsompong K, Rinkrathok M, Sriwattanapong K, Shotelersuk V, Porntaveetus T, 2024. Functional and pathogenic insights into CNNM4 variants in Jalili syndrome. Scientific reports
  3. Rattanapornsompong K, Gavila P, Tungsanga S, Chanakul A, Apivatthakakul A, Tengsujaritkul M et al., 2023. Novel CNNM4 variant and clinical features of Jalili syndrome. Clinical genetics

Other ophthalmological conditions

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