PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT

Samer Khateb; Saddek Mohand-Saïd; Marco Nassisi; Crystel Bonnet; Anne-Françoise Roux; Camille Andrieu; Aline Antonio; Christel Condroyer; Christina Zeitz; Céline Devisme; Natalie Loundon; Sandrine Marlin; Christine Petit; Bahram Bodaghi; José-Alain Sahel; Isabelle Audo

doi:10.1097/IAE.0000000000002636

Journal articles

PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT

Samer Khateb ^{1, 2, 3} Saddek Mohand-Saïd ^{4, 3} Marco Nassisi ^{2, 3} Crystel Bonnet ^{5, 2} Anne-Françoise Roux ⁶ Camille Andrieu ³ Aline Antonio ^{2, 3} Christel Condroyer ² Christina Zeitz ² Céline Devisme ³ Natalie Loundon ^{7, 8} Sandrine Marlin ⁸ Christine Petit ^{2, 5, 9} Bahram Bodaghi ¹⁰ José-Alain Sahel ^{2, 3, 11, 12, 13} Isabelle Audo ^{2, 3, 14, *}

* Corresponding author

1 HUJ - The Hebrew University of Jerusalem

2 Institut de la Vision

3 Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

4 Institut de la Vision

5 Génétique et Physiologie de l'Audition

6 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]

7 CHU Necker - Enfants Malades [AP-HP]

8 Centre de référence des Surdités Génétiques

9 Chaire Génétique et physiologie cellulaire

CdF (institution) - Collège de France

10 CHU Pitié-Salpêtrière [AP-HP]

11 Fondation Ophtalmologique Adolphe de Rothschild [Paris]

12 University of Pittsburgh School of Medicine

13 Académie des Sciences [Paris]

14 UCL - University College of London [London]

Abstract : Purpose: To document the rod-cone dystrophy phenotype of patients with Usher syndrome type 1 (USH1) harboring MYO7A mutations. Methods: Retrospective cohort study of 53 patients (42 families) with biallelic MYO7A mutations who underwent comprehensive examination, including functional visual tests and multimodal retinal imaging. Genetic analysis was performed either using a multiplex amplicon panel or through direct sequencing. Data were analyzed with IBM SPSS Statistics software v. 21.0. Results: Fifty different genetic variations including 4 novel were identified. Most patients showed a typical rod-cone dystrophy phenotype, with best-corrected visual acuity and central visual field deteriorating linearly with age. At age 29, binocular visual field demonstrated an average preservation of 50 central degrees, constricting by 50% within 5 years. Structural changes based on spectral domain optical coherence tomography, short wavelength autofluorescence, and near-infrared autofluorescence measurements did not however correlate with age. Our study revealed a higher percentage of epiretinal membranes and cystoid macular edema in patients with MYO7A mutations compared with rod-cone dystrophy patients with other mutations. Subgroup analyses did not reveal substantial genotype-phenotype correlations. Conclusion: To the best of our knowledge, this is the largest French cohort of patients with MYO7A mutations reported to date. Functional visual characteristics of this subset of patients followed a linear decline as in other typical rod-cone dystrophy, but structural changes were variable indicating the need for a case-by-case evaluation for prognostic prediction and choice of potential therapies.

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Journal articles

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Life Sciences [q-bio]

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https://hal-pasteur.archives-ouvertes.fr/pasteur-03215234
Contributor : Crystel Bonnet <>
Submitted on : Monday, May 3, 2021 - 11:21:56 AM
Last modification on : Thursday, May 27, 2021 - 5:08:05 PM

PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT

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PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT

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