Associated Papers
Optical coherence tomography-derived biomarkers for disease severity in choroideremia and choroideremia carriers.
Choi HS et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2025
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
FOVEAL PHENOTYPES IN CHOROIDEREMIA ON ADAPTIVE OPTICS SCANNING LIGHT OPHTHALMOSCOPY.
Wynne N et al.
Retina (philadelphia, Pa.), 2024
Clinical and genetic findings in a Chinese cohort with choroideremia.
Song Y et al.
Eye (london, England), 2023
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Zeitz C et al.
Human Mutation, 2021
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?
Han RC et al.
Expert Opinion on Orphan Drugs, 2021
Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families.
Hayashi T et al.
Scientific Reports, 2020
Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM).
Murro V et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2019
Visual Function at the Atrophic Border in Choroideremia Assessed with Adaptive Optics Microperimetry.
Tuten WS et al.
Ophthalmology. Retina, 2019
Near-infrared autofluorescence in young choroideremia patients.
Mucciolo DP et al.
Ophthalmic Genetics, 2019
Optical Coherence Tomography Angiography (OCT-A) in young choroideremia (CHM) patients.
Murro V et al.
Ophthalmic Genetics, 2019
CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia.
Di Iorio V et al.
Investigative Ophthalmology & Visual Science, 2019
Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
Murro V et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2017
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.
Esposito G et al.
Human Mutation, 2011