Quantitative Fundus Autofluorescence and Genetic Associations in Macular, Cone, and Cone-Rod Dystrophies.

doi:10.1016/j.oret.2020.02.009

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Article

Quantitative Fundus Autofluorescence and Genetic Associations in Macular, Cone, and Cone-Rod Dystrophies.

Ophthalmology. Retina - 1 Jul 2020

Gliem Martin, Müller Philipp L, Birtel Johannes, Herrmann Philipp, McGuinness Myra B, Holz Frank G, Charbel Issa Peter

Abstract excerpt

PURPOSE: To investigate quantitatively lipofuscin-associated fundus autofluorescence in patients with macular and cone/cone-rod dystrophies (MD/CCRDs). DESIGN: Prospective, single-center, case-control study. PARTICIPANTS: Two hundred thirty patients with MD/CCRDs who had undergone genetic testing and 110 control participants without any eye disease. METHODS: Participants were examined using quantitative fundus...

Topics

Adolescent
Adult
Case-Control Studies
Child
Cone-Rod Dystrophies
Cross-Sectional Studies
DNA
DNA Mutational Analysis
Eye Proteins
Female
Fluorescein Angiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Fundus Oculi

Humans

Male

Middle Aged

Mutation

Ophthalmoscopy

Pedigree

Source

Open in PubMed

Identifiers

PMID: 32646556
DOI: 10.1016/j.oret.2020.02.009

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