A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant
Por:
Chacon-Camacho O.F., Ordaz-Robles T., Cid-García M.A., Yepes-Rodríguez O., Arce-González R., Martínez-Aguilar A., Zenteno J.C.
Publicada:
1 ene 2025
Ahead of Print:
1 sep 2024
Resumen:
Doyne honeycomb retinal dystrophy (DHRD), also termed malattia leventinese (MLVT), is a dominantly inherited ocular disease characterized by the progressive accumulation of macular and peripapillary drusenoid material beneath the retinal pigment epithelium in the Bruch membrane. In all affected individuals genetically characterized to date, DHRD/MLVT is caused by a single heterozygous p.Arg345Trp missense variant in the EGF-containing fibulin-like extracellular matrix protein 1, EFEMP1. Recently, pathogenic variants in the EFEMP1 gene have also been demonstrated in several families with juvenile or adult-onset hereditary isolated glaucoma. Here, we describe a family featuring a unique phenotype of juvenile glaucoma and DHRD/MLVT caused by a novel EFEMP1 variant. Our results expand both the ocular phenotype associated with EFEMP1 variants and the molecular spectrum causing DHRD by describing the first non-p.Arg345Trp EFEMP1 pathogenic allele. © 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
Filiaciones:
Chacon-Camacho O.F.:
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico, Mexico
Laboratorio 5 Edificio A-4, Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de, Mexico, Mexico
Ordaz-Robles T.:
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico, Mexico
Department of Genetics, Fundación Hospital Nuestra Señora de la Luz, Mexico, Mexico
Cid-García M.A.:
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico, Mexico
Yepes-Rodríguez O.:
Hospital del Niño Dr. Rodolfo Nieto Padrón, Villahermosa, Mexico
Instituto Oftavisión de Tulipan, Cunduacan, Mexico
Arce-González R.:
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico, Mexico
Martínez-Aguilar A.:
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico, Mexico
Zenteno J.C.:
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico, Mexico
Biochemistry Department, Faculty of Medicine, National Autonomous University of Mexico, Mexico, Mexico
Rare Diseases Diagnostic Unit, Faculty of Medicine, National Autonomous University of Mexico, Mexico, Mexico
hybrid, All Open Access; Hybrid Gold Open Access
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