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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 CHNO - 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
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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https://hal-pasteur.archives-ouvertes.fr/pasteur-03215234
Contributor : Crystel Bonnet Connect in order to contact the contributor
Submitted on : Monday, May 3, 2021 - 11:21:56 AM
Last modification on : Friday, May 20, 2022 - 11:06:25 AM

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PASTEUR | CDF | PSL | U1120 | U968 | SU-MEDECINE | CNRS | SORBONNE-UNIVERSITE

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Samer Khateb, Saddek Mohand-Saïd, Marco Nassisi, Crystel Bonnet, Anne-Françoise Roux, et al.. PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT. RETINA, Lippincott, Williams & Wilkins, 2020, 40 (8), pp.1603-1615. ⟨10.1097/IAE.0000000000002636⟩. ⟨pasteur-03215234⟩

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