Associated Papers
Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa.
Prétot D et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2025
Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia.
DeLuca AP et al.
Ophthalmology Science, 2023
REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.
Cunha DL et al.
Jci Insight, 2021
33755601 (PubMed )
Supplement: jciinsight-6-146934-s120.pdf
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?
Han RC et al.
Expert Opinion on Orphan Drugs, 2021
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
The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.
Simunovic MP et al.
Investigative Ophthalmology & Visual Science, 2016
A clinical molecular genetic service for United Kingdom families with choroideraemia.
Ramsden SC et al.
European Journal of Medical Genetics, 2013
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
van den Hurk JA et al.
Human Genetics, 2003
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