Peripapillary sparing in RDH12-associated Leber congenital amaurosis. [electronic resource]
Producer: 20171201Description: 575-579 p. digitalISSN:- 1744-5094
- Adolescent
- Alcohol Oxidoreductases -- genetics
- Atrophy
- Child
- DNA Mutational Analysis
- Electroretinography
- Female
- Genetic Testing
- Genotype
- Humans
- Leber Congenital Amaurosis -- diagnosis
- Male
- Multimodal Imaging
- Mutation
- Optic Disk -- pathology
- Pedigree
- Retinal Pigment Epithelium -- pathology
- Tomography, Optical Coherence
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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