Article
Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Nov 2017
Murro Vittoria, Mucciolo Dario Pasquale, Passerini Ilaria, Palchetti Simona, Sodi Andrea, Virgili Gianni, Rizzo Stanislao
Abstract excerpt
PURPOSE: To describe clinical and molecular characteristics in a group of Italian female choroideremia (CHM) carriers and report fundus patterns. METHODS: We retrospectively studied 11 female carriers belonging to six CHM families examined at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence. We took into consideration patients with a comprehensive ophthalmological...
Topics
- Adaptor Proteins, Signal Transducing
- Adolescent
- Adult
- Aged
- Child
- Choroideremia
- DNA
- DNA Mutational Analysis
- Electroretinography
- Female
- Fluorescein Angiography
- Fundus Oculi
- Heterozygote