July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Prevalence and phenotypes/genotypes of CRB1 retinal dystrophies
Author Affiliations & Notes
  • Beatrice BOCQUET
    Montpellier Hospital, National Centre for rare diseases, Montpellier, France
    University of Montpellier, INSERM U1051 - INM, Montpellier, France
  • Claire-Marie Dhaenens
    Biochemistry and Molecular Biology Department - UF Génopathies, University Lille - CHU Lille, LILLE, France
    INSERM UMR-S 1172, LILLE, France
  • Isabelle Perrault
    IMAGINE - Paris Descartes University, Laboratory of Genetics in Ophthalmology (LGO - INSERM UMR1163 - Institute of Genetic Diseases, PARIS, France
  • Jean-Michel Rozet
    IMAGINE - Paris Descartes University, Laboratory of Genetics in Ophthalmology (LGO - INSERM UMR1163 - Institute of Genetic Diseases, PARIS, France
  • Josseline Kaplan
    IMAGINE - Paris Descartes University, Laboratory of Genetics in Ophthalmology (LGO - INSERM UMR1163 - Institute of Genetic Diseases, PARIS, France
  • Anne Francoise Roux
    Montpellier Hospital - University of Montpellier, Laboratory of Molecular Genetics, Montpellier, France
  • Dalil Hamroun
    Montpellier Hospital, National Centre for rare diseases, Montpellier, France
  • Gabriel Gardes
    Montpellier Hospital, National Centre for rare diseases, Montpellier, France
  • Gael Manes
    University of Montpellier, INSERM U1051 - INM, Montpellier, France
    Montpellier Hospital, National Centre for rare diseases, Montpellier, France
  • Elfride De Baere
    Center for Medical Genetics Ghent - Ghent University Hospital, GHENT, Belgium
  • Bart P Leroy
    Center for Medical Genetics Ghent - Ghent University Hospital, GHENT, Belgium
  • Vasiliki Kalatzis
    University of Montpellier, INSERM U1051 - INM, Montpellier, France
  • Isabelle Anne Meunier
    Montpellier Hospital, National Centre for rare diseases, Montpellier, France
    University of Montpellier, INSERM U1051 - INM, Montpellier, France
  • Footnotes
    Commercial Relationships   Beatrice BOCQUET, None; Claire-Marie Dhaenens, None; Isabelle Perrault, None; Jean-Michel Rozet, None; Josseline Kaplan, None; Anne Francoise Roux, None; Dalil Hamroun, None; Gabriel Gardes, None; Gael Manes, None; Elfride De Baere, None; Bart Leroy, None; Vasiliki Kalatzis, None; Isabelle Meunier, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 2948. doi:
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      Beatrice BOCQUET, Claire-Marie Dhaenens, Isabelle Perrault, Jean-Michel Rozet, Josseline Kaplan, Anne Francoise Roux, Dalil Hamroun, Gabriel Gardes, Gael Manes, Elfride De Baere, Bart P Leroy, Vasiliki Kalatzis, Isabelle Anne Meunier; Prevalence and phenotypes/genotypes of CRB1 retinal dystrophies. Invest. Ophthalmol. Vis. Sci. 2019;60(9):2948.

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

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Abstract

Purpose : Mutations in CRB1 are classically associated with Leber congenital amaurosis (LCA). A macular phenotype has been recently identified. Herein, we evaluate the different phenotypes and their causal mutations.

Methods : All patients with biallelic CRB1 mutations known at our academic institution were included. The distinction between LCA and early-onset retinitis pigmentosa (RP) was based on the presence of a congenital nystagmus and the age of night blindness (< 2 years). A phenotype of isolated maculopathy was retained in cases without night blindness, and preserved peripheral visual fields, peripheral retina and vessel calibers on color and/or autofluorescence photographs.

Results : Among the 4267 families included in our database, 28 families had CRB1-related retinal dystrophies. Eight families (9 patients, 14.5% of all LCA patients) had an LCA with severe visual loss (hand motion to 20/400). Fifteen patients (15 families, 4% of all RP cases) had a RP with an early-onset and a severe visual loss during the first decade. In LCA and RP phenotypes, visual loss is consistent with the macular involvement with hyperreflective lesions on optical coherence tomography and preserved macular thickness despite photoreceptor loss. A macular phenotype was found in 5 patients (four families), 4 of them have a visual acuity below 20/40 in both eyes. All patients with maculopathy carry the c.498_506del in one allele (5.7% of inherited macular dystrophies). All RP patients have at least one missense mutation in CRB1. Patients with LCA have at least one or two frameshifts in CRB1, except for two patients.

Conclusions : Biallellic CRB1 mutations cause LCA or early-onset RP with early and severe central visual loss. Macular dystrophies account for more than 16% of CRB1-related retinal dystrophies and for 5.7% of inherited macular dystrophies. Ophthalmologists should be aware of the range of CRB1 phenotypes, characterized by specific fundus and autofluorescence macular patterns.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

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