General Information:


The following PDF contains information links on prevalence and CHM general info:

CHM patient mutation databases:

Lieden Open (Source) Database Installations with CHM: http://www.lovd.nl/2.0/index_list.php?search_symbol=chm


Other sources:

Patient Registry for CHM (and other inherited RDD) in cooperation with the Foundation Fighting Blindness - Launched in 2014 - this registry will be uploading data to the LOVD database per Dr. Steve Rose with the FFB:


Retinal Diseases - Identified Genetic Causes Database - Stephen P. Daiger, PhD, Professor University of Texas: https://sph.uth.edu/retnet/

  • Non-syndromic retinal ciliopathies: translating gene discovery into therapy - Alejandro Estrada-Cuzcano 1,2,3, Ronald Roepman 1,2,3, Frans P.M. Cremers 1,2, Anneke I. den Hollander 1,2,3,4 and Dorus A. Mans 1,2, - 1 Department of Human Genetics, 2 Nijmegen Centre for Molecular Life Sciences, 3 Institute for Genetic and Metabolic Diseases and 4Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The NetherlandsReceived July 10, 2012; Revised July 10, 2012; Accepted July 17, 2012: http://hmg.oxfordjournals.org/content/21/R1/R111.full.pdf+html


Human Genome Variation Society - Recommendations for the description of DNA sequence variants - v2.0:


UK Government genome project could shed light on eye diseases:



Discovery and Diagnosis:

Natural History:
    • An internet-based health survey on the co-morbidities of choroideremia patients: http://www.ncbi.nlm.nih.gov/pubmed/23297843
    • Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia: M Flynn Roberts, G A Fishman, et al, Br J Ophthalmol. 2002 June; 86(6): 658–662: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1771148/
    • CHM Misdiagnosed as RP in 3.8% of 157 Families - Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa - Li S1, Guan L2, Fang S1, Jiang H2, Xiao X1, Yang J2, Wang P1, Yin Y2, Guo X1, Wang J2, Zhang J2, Zhang Q1 - Author information 1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China - 2BGI‑Shenzhen, Shenzhen, Guangdong 518083, P.R. China - Int J Mol Med. 2014 Jun 6. doi: 10.3892/ijmm.2014.1797: http://www.ncbi.nlm.nih.gov/pubmed/24913019
    • Includes Female Carriers - Clinical and functional findings in choroideremia due to complete deletion of the CHM gene-Arch Ophthalmol-Mura M,Sereda C,Jablonski MM,MacDonald IM,Iannaccone A-Aug 2007: http://www.ncbi.nlm.nih.gov/pubmed/17698759


Genotype / Phenotype Research:


Genetics of CHM:



Molecular Mechanisms:


Animal and Cell Models and Research:

Note: Mouse and Cell Models have been published in the Public Library of Science (except where noted) which makes the materials, methods and data available for non-commercial sharing under PLOS policies located at:http://www.plosone.org/static/policies.action#sharing


Mouse - CHM Knockout Mouse - Full CHM Gene Deletion:


Zebrafish - CHM nonsense mutation:


Human CHM Cells:


Biorepository Information:

  • A biorepository for ophthalmic surgical specimens - Skeie JM, Tsang SH, Zande RV, Fickbohm MM, Shah SS, Vallone JG, Mahajan VB. Proteomics Clin Appl. 2013 Sep 24. doi: 10.1002/prca.201300043 - Department of Ophthalmology and Visual Sciences; Omics Laboratory, University of Iowa, Iowa City, IA: http://www.ncbi.nlm.nih.gov/pubmed/24115637


CHM Human Trials and Pre-Clinical Research:


United Kingdom Human Trials:



United Kingdom Pre-clinical Studies:


Canadian Upcoming Human Trials using the UK AAV2/CHM vector:

United States Pre-clinical Studies:

AAV5 Human iPS, RPE models and pre-clincal studies at Inserm in Montpellier France - Cereso, Pequignot, Robert, Becker, De Luca, Nabholz, Rigau, De Vos, Hamel, Kalatzis:
  • The characterization of genomic DNA from the fibroblasts of patient CHM1 reveals duplication and deletion of sequences at the intron 7-exon 8 junction that lead to loss of the intron 7 acceptor splice site and thus deletion of exon 8 - First creation of human CHM iPS and RPE models.
  • CHM-AAV5-_Hamel_Kalatzis_etal-Molecular Therapy-Apr 2014.pdf