1. Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene
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Jaume Català-Mora, Olaia Subirà, Jesús Díaz-Cascajosa, J.M. Caminal, M. A. Claveria, Joan Prat, Natalia Coll-Alsina, Noel Padrón-Pérez, Christine Petit, Crystel Bonnet, L’Hospitalet de Llobregat [Barcelona, Spain], Hospital Sant Joan de Déu [Barcelona], Syndrome de Usher et autres atteintes rétino-cochléaires, Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM), ED 515 - Complexité du vivant, Université Pierre et Marie Curie - Paris 6 (UPMC), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), This work received no funding, We thank the families HEALTH-F2-2010-242013 (TREATRUSH). We also thank Bradley Londres for editing and improving the use of English in this document and Dr. Anne Kurtenbach for her critical review and comments of this paper., Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), and Collège de France - Chaire Génétique et physiologie cellulaire
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Male ,medicine.medical_specialty ,Visual acuity ,Adolescent ,genetic structures ,MYO7A ,Usher syndrome ,[SDV]Life Sciences [q-bio] ,Visual Acuity ,Retina ,Article ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Ophthalmology ,Medicine ,Humans ,Fluorescein Angiography ,External limiting membrane ,Child ,Melanosome ,Retrospective Studies ,Retinal pigment epithelium ,business.industry ,Usher Syndrome Type 1 ,Retinal ,medicine.disease ,eye diseases ,medicine.anatomical_structure ,chemistry ,Child, Preschool ,Myosin VIIa ,Mutation ,030221 ophthalmology & optometry ,Female ,sense organs ,medicine.symptom ,business ,Usher Syndromes ,030217 neurology & neurosurgery ,Tomography, Optical Coherence - Abstract
International audience; Purpose: To describe retinal alterations detected by swept-source optical coherence tomography (SS-OCT) in paediatric patients with Usher syndrome type 1 (USH1) and to compare these findings to previously published reports.Methods: Thirty-two eyes from 16 patients (11 males and 5 females) with a genetic diagnosis of USH1 because of MYO7A mutations underwent SS-OCT. Patients ranged in age from 4 to 17 years (mean, 11,13 ± 4,29). The subfoveal and macular area were analysed with SS-OCT at 1050 nm using 12 radial scans of 12.0 mm. Structural abnormalities were evaluated and correlated with best-corrected visual acuity (BCVA).Results: The most common qualitative retinal abnormality was external layer damage in macular area. Specific alterations included external limiting membrane loss/disruption (27 eyes; 84.4%), disruption of the Myoid zone (27 eyes; 84.4%); Ellipsoid zone disruption (28 eyes; 87.5%), and loss of the outer segments (29 eyes; 90.6%). The damage of the retinal pigment epithelium was divided according to the loss of the different layers: phagosome zone (30 eyes; 93.8%), melanosome zone (29 eyes; 90.6%) and mitochondria zone (0 eyes; 0%). The presence of cystoid macular oedema (CMO) was significantly correlated with alterations in photoreceptors. Disruption or absence of the myoid and ellipsoid zones of the photoreceptors were the only variables independently associated with decreased BCVA.Conclusions: The findings of this study suggest that the physiopathologic basis of early-stage Usher syndrome (USH) may be changes in the outer retinal layer, particularly the photoreceptors, which in turn may cause alterations-such as CMO-in the inner retinal layers. Accordingly, monitoring the condition of photoreceptors during follow-up may be advisable for the early detection of pathologic changes.
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- 2020
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