Sanchez Tocino, Hortensia

Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene. [electronic resource] - Ophthalmic genetics 04 2019 - 170-176 p. digital

Publication Type: Case Reports; Journal Article

1744-5094

10.1080/13816810.2019.1605385 doi


Adult
Aged
Child
DNA Mutational Analysis
Electroretinography
Exons--genetics
Eye Proteins--genetics
Female
Genetic Association Studies
Genetic Diseases, X-Linked--diagnosis
Heterozygote
Humans
Male
Middle Aged
Mutation
Myopia, Degenerative--diagnosis
Pedigree
Phenotype
Retinitis Pigmentosa--diagnosis
Visual Field Tests
Visual Fields--physiology