Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype
| Autor: | ALEJANDRA DARUICH, MATTHIEU P. ROBERT, CAMILLE LEROY, NATHALIE DE VERGNES, CAROLINE BEUGNET, VALERIE MALAN, SOPHIE VALLEIX, DOMINIQUE BREMOND-GIGNAC |
|---|---|
| Přispěvatelé: | Service d'ophtalmologie [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Physiopathologie des maladies oculaires : innovations thérapeutiques = Physiopathology of ocular diseases: Therapeutic innovations [CRC], Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique moléculaire [CHU Necker], Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Gestionnaire, Hal Sorbonne Université |
| Rok vydání: | 2022 |
| Předmět: |
[SDV.MHEP.AHA] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]
Genotype PAX6 Transcription Factor genetic structures Vision Disorders aniridia [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics eye diseases Pedigree PAX6 Ophthalmology Phenotype [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics Mutation [SDV.BDD] Life Sciences [q-bio]/Development Biology [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO] Humans foveal hypoplasia sense organs Eye Proteins [SDV.BDD]Life Sciences [q-bio]/Development Biology Retrospective Studies iris |
| Zdroj: | American Journal of Ophthalmology American Journal of Ophthalmology, In press, pp.122-129. ⟨10.1016/j.ajo.2021.12.007⟩ |
| ISSN: | 0002-9394 |
| DOI: | 10.1016/j.ajo.2021.12.007 |
| Popis: | International audience; Purpose: To correlate the degree of foveal hypoplasia in congenital aniridia with visual acuity, iris phenotype, and PAX6 mutations.Design: Retrospective case series.Methods: 95 consecutive patients with high quality Spectral-domain optical coherence tomography (SD-OCT) records and available genotype were included in a single referral center. Iris hypoplasia was classified as complete, presence of iris root or remnants and mild atypical aniridia. SD-OCT images were assessed to classify foveal hypoplasia as Grade 1 to 4 and to determine mean thicknesses for retinal layers. For statistical analysis one eye for each patient have been used and one member of the same family has been included (n=76 eyes).Results: Most eyes (93.5%) showed variable degree of foveal hypoplasia. PAX6-positive patients presented higher degree of foveal hypoplasia than patients negative for PAX6 (p |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect