May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Jalili Syndrome - Cone-Rod Dystrophy (CRD) and Amelogenesis Imperfecta (AI); Six Families and Consistent Linkage to 2q11
Author Affiliations & Notes
  • C. F. Inglehearn
    Leeds Institute of Molecular Medicine, Leeds, United Kingdom
  • W. El-Sayed
    Leeds Institute of Molecular Medicine, Leeds, United Kingdom
    Leeds Dental Institute, Leeds, United Kingdom
  • R. C. Shore
    Leeds Dental Institute, Leeds, United Kingdom
  • I. K. Jalili
    Leeds Institute of Molecular Medicine, Leeds, United Kingdom
  • H. Dollfus
    Université Louis Pasteur, Strasbourg, France
  • R. Carlos
    Centro de Medicina Oral de Guatemala, Ciudad de Guatemala, Guatemala City, Guatemala
  • K. M. Blain
    Greenock Health Centre, Renfrewshire, United Kingdom
  • D. C. Mansfield
    Inverclyde Royal Hospital, Greenock, United Kingdom
  • A. T. Moore
    Institute of Ophthalmology, London, United Kingdom
  • A. J. Mighell
    Leeds Dental Institute, Leeds, United Kingdom
  • Footnotes
    Commercial Relationships  C.F. Inglehearn, None; W. El-Sayed, None; R.C. Shore, None; I.K. Jalili, None; H. Dollfus, None; R. Carlos, None; K.M. Blain, None; D.C. Mansfield, None; A.T. Moore, None; A.J. Mighell, None.
  • Footnotes
    Support  Wellcome Trust project grant and Egyptian Government Scholarship
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 457. doi:https://doi.org/
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      C. F. Inglehearn, W. El-Sayed, R. C. Shore, I. K. Jalili, H. Dollfus, R. Carlos, K. M. Blain, D. C. Mansfield, A. T. Moore, A. J. Mighell; Jalili Syndrome - Cone-Rod Dystrophy (CRD) and Amelogenesis Imperfecta (AI); Six Families and Consistent Linkage to 2q11. Invest. Ophthalmol. Vis. Sci. 2008;49(13):457. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : We ascertained six families with autosomal recessive AI, a defect of enamel formation, and CRD leading to loss of central vision and blindness. We propose to name this condition Jalili syndrome. This study aims to describe the phenotype more completely and determine whether this is a single condition.

Methods: : Affected individuals were subject to direct ophthalmoscopy. Deciduous teeth were examined by electron microscopy, energy dispersive X-ray analysis and microradiography. Microsatellite genotypes were obtained by PCR from genomic DNA and size fractionation on an ABI sequencer. SNP genotypes were obtained using the Affymetrix 50k SNP chips.

Results: : Primary and secondary teeth show a generalised mixed hypomaturation/hypoplastic form of AI. Ultrastructural analyses of deciduous teeth from one individual confirm poor enamel structure and hypomineralisation. Impaired central vision is evident in all cases in infancy and progresses with loss of colour vision and photophobia. Typically patients have poor vision from the first decade of life and are blind before the age of 20. Genetic analyses of four families confirm linkage to 2q11, a fifth is consistent with linkage while a sixth is too small to test.

Conclusions: : With only two published families it remained possible that this condition resulted from the coincidence of two closely linked mutations, and that this could involve different genes in each family. However the observation of six such families, with confirmation of 2q11 linkage in four, confirms the existence of a single, genetically homogeneous syndrome and points to the intriguing possibility of a link between tooth and eye development.

Keywords: genetics • retinal degenerations: hereditary 
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