June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
Jalili syndrome: retinal dystrophy and amelogenesis imperfecta: genotype-phenotype analysis in four new cases
Author Affiliations & Notes
  • Christina Gerth-Kahlert
    Ophthalmology, University of Zurich, Zurich, Switzerland
  • Britta Seebauer
    Institute of Medical Molecular Genetics, University of Zurich, Zurich, Switzerland
    Neuroscience Center Zurich, University of Zurich, Zurich, Switzerland
  • Sandra Dold
    Institute of Medical Molecular Genetics, University of Zurich, Zurich, Switzerland
  • Johannes Fleischhauer
    Ophthalmology, University of Zurich, Zurich, Switzerland
  • Hubertus van Waes
    Center of Dental Medicine, University of Zurich, Zurich, Switzerland
  • Wolfgang Berger
    Institute of Medical Molecular Genetics, University of Zurich, Zurich, Switzerland
    Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland
  • Footnotes
    Commercial Relationships Christina Gerth-Kahlert, None; Britta Seebauer, None; Sandra Dold, None; Johannes Fleischhauer, None; Hubertus van Waes, None; Wolfgang Berger, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 1342. doi:
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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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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: 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)

Methods: 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.

Results: 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.

Conclusions: 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.

Keywords: 696 retinal degenerations: hereditary • 539 genetics  
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