Mutational Profile and Retinal Phenotypes of PCARE -Related Cone-Rod Dystrophies in a Mexican Cohort.

Víctor R López-RodríguezRocío Arce-GonzálezAlan Martínez-AguilarCarlos E Rodríguez-LópezSergio Groman-LupaM Isabel Neria-GonzálezGenaro Rodríguez-UribeJuan Carlos Zenteno Ruiz

Published in: Journal of ophthalmology (2024)

mutational profile by identifying three novel pathogenic variants causing retinal dystrophy. While phenotypic variations occurred among patients, a cone-rod dystrophy pattern was observed in all affected individuals.

Keyphrases

optical coherence tomography
diabetic retinopathy
early onset
optic nerve
copy number
genome wide