cone-rod dystrophy and amelogenesis imperfecta

Jalili Syndrome

Clinical Characteristics

Ocular Features:

Symptoms of photophobia and reduced vision are present in the first years of life. Pendular nystagmus is common. Color vision is defective and is characterized by some as a form of achromatopsia, perhaps better described as dyschromatopsia. Reduced night vision is noted by the end of the first decade of life. OCT reveals reduced foveal and retinal thickness. The macula appears atrophic with pigment mottling and the peripheral retina can resemble retinitis pigmentosa with bone spicule pigment changes. Retinal vessels may be narrow. The ERG shows reduced responses in both photopic and scotopic recordings. This form of rod-cone dystrophy is progressive with central acuity decreasing with age.

Systemic Features:

The teeth are abnormally shaped and discolored from birth. The amelogenesis imperfecta consists of hypoplasia and hypomineralization that is present in both deciduous and permanent teeth. Tooth enamel is mineralized only to 50% of normal and is similar to that of dentine.

Genetics

This is an autosomal recessive condition caused by mutations in the CNNM4 gene at 2q11.2.

Pedigree:

Autosomal recessive

Treatment

Treatment Options:

No treatment is available for the ocular condition but red-tinted lenses and low vision aids may be helpful. The teeth require dental repair.

References

Article Title:

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta

Hirji N, Bradley PD, Li S, Vincent A, Pennesi ME, Thomas AS, Heon E, Bhan A, Mahroo OA, Robson A, Inglehearn CF, Moore AT, Michaelides M. Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta. Am J Ophthalmol. 2018 Apr;188:123-130.

PubMed ID:

29421294

Intra-familial phenotype variability in patients with Jalili syndrome

Gerth-Kahlert C, Seebauer B, Dold S, Hanson JV, Wildberger H, Sporri A, van Waes H, Berger W. Intra-familial phenotype variability in patients with Jalili syndrome. Eye (Lond). 2015 May;29(5):712-6.

PubMed ID:

25613845

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet. 2009 Feb;84(2):266-73.

PubMed ID:

19200525

A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome

Jalili IK, Smith NJ. A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. J Med Genet. 1988 Nov;25(11):738-40.

PubMed ID:

3236352

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