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