Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes - Zenteno, Juan C.; Arce-Gonzalez, Rocio; Matsui, Rodrigo; Lopez-Bolaños, Antonio; Montes, Luis; Martinez-Aguilar, Alan; Chacon-Camacho, Oscar F. (Graefe's archive for clinical and experimental ophthalmology, 2023)
Keywords: Acuity; Adaptor Proteins, Signal Transducing; Adolescent; Adult; Autosomal dominant inheritance; Autosomal recessive inheritance; Bestrophins; Child; Color vision; Cytochrome P450 Family 2; Dystrophy; Electroretinography; Genetic screening; Heredity; Humans; Macular Degeneration - diagnosis; Macular Degeneration - genetics; Medicine; Medicine & Public Health; Middle Aged; Mutation; Next-generation sequencing; Ophthalmology; Pedigree; Phenotype; Photography; Retinal Disorders; Retinal Dystrophies - diagnosis; Retinal Dystrophies - genetics; Retinopathy; Tomography, Optical Coherence - methods; Visual field; Visual Field Tests; Young Adult; gene; Retinal dystrophy; Macular dystrophy; Exome sequencing; POC1B gene; UNC11 gene