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Christina Gerth-Kahlert, Britta Seebauer, Sandra Dold, Johannes Fleischhauer, Hubertus van Waes, Wolfgang Berger; Jalili syndrome: retinal dystrophy and amelogenesis imperfecta: genotype-phenotype analysis in four new cases. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1342.
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Jalili syndrome is a rare autosomal-recessive disorder, which was first described in 1988 and recently linked to mutations in the CNNM4 gene. Two phenotypes are proposed: associated with bull’s eye maculopathy and peripheral retinal degeneration (type A) or with minor retinal dystrophy (type B). (Jalili IK, Smith JD. J Med Gen 1988 Jalili IK. Eye 2010)
Patients who meet the criteria of Jalili syndrome received a comprehensive eye exam and a detailed retinal function (fullfield electroretinogram- ERG) and morphology (optical coherence tomography-OCT) assessment. A detailed dental examination was performed. Genetic testing was performed by Sanger DNA sequencing of all 7 exons (protein coding parts and flanking splice sites) of the CNNM4 gene. Sequence data were aligned to the CNNM4 reference sequence from ENSEMBL.
Two unrelated sibling pairs ages 4.5 to 15 years, all originating from families in Kosovo, were identified. Visual acuity deteriorated over age and was severely reduced in all 4 patients to 20/200 or less at the last exam. Nystagmus was present in 3/4 patients. Fundus exam revealed mild to severe bull’s eye maculopathy in 3/4 and diffuse retinal dystrophy in 1/4 patients. ERG showed normal scotopic responses but non-recordable cone responses in all patients. OCT revealed outer retinal abnormalities. All four patients show severe dental abnormalities as described in amelogenesis imperfecta. All four patients showed the same homozygous mutation in the CNNM4 gene.
Patients with Jalili Syndrome show a progressive retinal dystrophy with predominantly cone dysfunction. Retinal changes can vary from mild maculopathy to diffuse retinopathy. Retinal phenotype variability can occur within the same family. Dental abnormalities seem to be more uniform among the patient affected. The proposed strict differentiation between type A and B might not be applicable to all patients affected.
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