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, MD, CM, , MD, and , MD, PhD.

Author Information
, MD, CM
Department of Ophthalmology
University of Alberta
Edmonton, Alberta, Canada
, MD
Gaithersburg, Maryland
, MD, PhD
Biomedical Sciences
Imperial College School of Medicine
London, United Kingdom

Initial Posting: ; Last Update: June 3, 2010.


Disease characteristics. Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in carrier females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be observed with careful fundus examination. These signs become more readily apparent after the second decade.

Diagnosis/testing. The diagnosis of CHM can be made clinically, based on the fundus examination and family history consistent with X-linked inheritance. CHM, encoding the protein REP-1, is the only gene to date known to be associated with choroideremia. Sequence analysis detects a recurrent mutation found in the Finnish population.

Management. Treatment of manifestations: Appropriate dietary intake of fresh fruit, leafy green vegetables; antioxidant vitamin supplement as needed; regular intake of dietary omega-3 very-long-chain fatty acids, including docosahexaenoic acid; cataract surgery as needed for posterior subcapsular cataract; low vision services as needed; counseling as needed to help cope with depression, loss of independence, fitness for driving, and anxiety over job loss.

Surveillance: Periodic ophthalmologic examination and Goldmann visual field examinations to monitor progression.

Genetic counseling. CHM is inherited in an X-linked manner. An affected male transmits the mutation to all of his female offspring and none of his male offspring. A carrier female has a 50% chance of passing the mutation to her offspring: males who inherit the mutation will be affected; females who inherit the mutation will be carriers and will usually not be affected. Carrier testing for at-risk female relatives and prenatal diagnosis for pregnancies at increased risk are possible if the disease-causing mutation has been identified in an affected family member.


Clinical Diagnosis

Affected males. The diagnosis of choroideremia (CHM) can be made if the following are present [Roberts et al 2002]:

  • A history of defective dark adaptation. Poor vision in the dark is commonly the first symptom in affected males. Males may not note such symptoms until their early teens.
  • Characteristic fundus appearance. Patchy areas of chorioretinal degeneration generally begin in the mid-periphery of the fundus. The areas of chorioretinal degeneration progress to marked loss of the retinal pigment epithelium and choriocapillaris (inner of the two vascular layers of the choroid that is composed largely of capillaries) with preservation of the deep choroidal vessels, as demonstrated by intravenous fluorescein angiography. The function and anatomy of the central macula is preserved until late in the disease process.
  • Peripheral visual field loss. Peripheral visual field loss manifests as a ring scotoma and generally follows changes in the fundus appearance. Areas of visual field loss closely match areas of chorioretinal degeneration.
  • The electroretinogram (ERG) of affected males may at first show a pattern of rod-cone degeneration, which eventually becomes non-recordable.
  • Family history consistent with X-linked inheritance

Carrier females

  • Carrier females have fundus changes that are similar to those in affected males and follow a similar pattern of progression.
  • Carrier females do not experience significant visual impairment and in general are asymptomatic.
  • Carrier females may show changes with ERG, dark adaptation, and visual field testing. The ERG may be normal in obligate carriers or in carriers with characteristic fundus changes. Sieving et al [1986] demonstrated that although abnormal responses may be recorded in female carriers with a dim blue flash, a dark-adapted white flash, or a flickering stimulus, no one test consistently predicted carrier status. Fundus autofluorescence may demonstrate in female carriers patchy areas of loss of fluorescence throughout the fundus [Preising et al 2009].
  • Carrier females age 21-65 years had no change in the Arden ratio of the electrooculogram [Yau et al 2007].


Chromosome analysis. A high-resolution karyotype may reveal deletion of Xq21 in males with a contiguous gene deletion or an X;autosome translocation in symptomatic females.

Immunoblot analysis. Affected males show absence of the REP-1 protein by western analysis of protein from peripheral blood lymphocytes or cell lines using anti-REP-1 antibody [MacDonald et al 1998].

Molecular Genetic Testing

Gene. CHM is the only gene in which mutation is currently known to cause choroideremia.

Clinical testing

Research testing. If sequence analysis and duplication/deletion analysis together fail to identify a mutation, reverse transcriptase PCR, northern blot analysis, or protein truncation testing can be employed on a research basis to detect aberrantly spliced products and/or check protein integrity [MacDonald et al 2004].

Table 1. Summary of Molecular Genetic Testing Used in Choroideremia

Gene 1Test MethodMutations Detected 2Mutation Detection Frequency by Test Method 3
Affected MalesCarrier Females
CHMSequence analysis 4Sequence variants~60%-95% 560%-95%
Whole- and partial-gene deletions0% 6
Duplication/deletion analysis 7Whole- and partial-gene deletionsNot needed 84%-25% 5
Targeted mutation analysisExon 13, donor splice site, insertion TMost mutations in the Finnish population

1. See Table A. Genes and Databases for chromosome locus and protein name.

2. See Molecular Genetics for information on allelic variants.

3. The ability of the test method used to detect a mutation that is present in the indicated gene

4. Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations. For issues to consider in interpretation of sequence analysis results, click here.

5. van den Hurk et al [1997], Fujiki et al [1999], McTaggart et al [2002], van den Hurk et al [2003]

6. Sequence analysis of genomic DNA cannot detect exonic or whole-gene deletions on the X chromosome in carrier females.

7. Testing that identifies exonic or whole-gene deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.

8. Sequence analysis can detect putative exonic and whole-gene deletions on the X chromosome in affected males based on lack of amplification by PCR.

Testing Strategy

To confirm the diagnosis in a proband

  • Clinical examination, in general, suggests a putative diagnosis of choroideremia in an affected male.
  • Sequence analysis is the first step to confirm the diagnosis.
  • When the clinical diagnosis is consistent with choroideremia, but no mutation is found by sequence analysis, duplication/deletion analysis is the next step.

Carrier testing for at-risk relatives requires prior identification of the disease-causing mutation in the family.

Note: (1) Carriers are heterozygotes for this X-linked disorder and may develop clinical findings related to the disorder. (2) Identification of female carriers requires either (a) prior identification of the disease-causing mutation in the family or, (b) if an affected male is not available for testing, molecular genetic testing first by sequence analysis, and then, if no mutation is identified, by methods to detect gross structural abnormalities.

Prenatal diagnosis and preimplantation genetic diagnosis (PGD) for at-risk pregnancies require prior identification of the disease-causing mutation in the family.

Clinical Description

Natural History

Affected males. Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males. Typically, symptoms evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Males in their 40s have very good visual acuity but only a small visual field. Later (age 50-70 years) the central vision is lost.

A recent study in 115 males (mean age 39 years) with CHM confirmed the typically slow rate of visual acuity loss and the generally good prognosis for central visual acuity retention until the seventh decade [Roberts et al 2002]. In that study, 84% of males under age 60 years had visual acuity of 20/40 or better and 35% of individuals over age 60 years had a visual acuity of 20/200 or worse.

Posterior subcapsular cataracts are found in 31% of males.

Cystoid macular edema, common in individuals with retinitis pigmentosa (RP), is not seen in individuals with CHM.

Carrier females. Carrier females are generally asymptomatic; however, signs of chorioretinal degeneration can be observed with careful fundus examination. These signs become more readily apparent after the second decade.

Females are occasionally severely affected with findings that mimic those of affected males because of skewed X-chromosome inactivation or the presence of an X;autosome chromosome translocation involving Xq21 [Lorda-Sanchez et al 2000]. In the latter instance, CHM results from either disruption of the gene at the site of the translocation or from a submicroscopic deletion of multiple genes resulting in a continuous gene deletion syndrome.

Symptomatic but mildly affected females are likely underreported in the literature.

Genotype-Phenotype Correlations

Genotype-phenotype correlations have not yet been demonstrated for this disorder.

Individuals with full deletions of CHM appear to be no more adversely affected than those with point mutations; all point mutations characterized thus far are nonsense mutations that result in a truncated unstable protein, which is rapidly degraded. Thus, functionally, full-gene deletions and point mutations both result in absence of the REP-1 protein.


Choroideremia, the only diagnostic term used for this condition, has consistently been applied for over 130 years.


Prevalence is estimated to be 1:50,000. This estimation is supported by the assumption that if the prevalence of RP is 1:3500, and about 6% of individuals diagnosed with RP-related disorders actually have CHM, it is likely that approximately 1:58,000 individuals have CHM.

Differential Diagnosis

Laboratory analysis may not always support the clinical diagnosis of choroideremia (CHM). For instance, a study identified 13 individuals diagnosed with CHM in whom subsequent laboratory analysis showed either presence of the REP-1 protein or absence of mutations in the CHM exons/splice sites [Lee et al 2003]. Upon reassessment of available clinical data, alternate diagnoses were suggested for eight of the 13. Specifically, CHM needs to be distinguished from the following retinal dystrophies:

  • X-linked retinitis pigmentosa (RP). Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. The symptoms of RP, i.e., "night blindness" and constriction of peripheral visual field are similar to those of CHM. Diagnosis of RP also relies on electroretinography (ERG) and visual field testing. RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. X-linked RP (XLRP) can be either recessive, affecting males only, or dominant, affecting both males and females; females are always more mildly affected. Mutations in RPGR (also called RP3) and RP2 are the most common causes of XLRP. Linkage studies suggest that they account for 70%-90% and 10%-20%, respectively, of X-linked RP. In the later stages of CHM, when the loss of choroid and retina are significant, the fundus appearance may be confused with end-stage RP; however, the degree of migration of pigment into the retina that typifies RP is not seen in individuals with CHM. The X-linked pattern of inheritance may lead one to suggest a diagnosis of X-linked RP.

    Obligate carriers of CHM have patchy areas of mid-peripheral chorioretinal degeneration, whereas female carriers of X-linked RP may have areas of bone spicule formation in the retinal periphery.
  • Usher syndrome type 1 is characterized by congenital, bilateral, profound hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Unless fitted with a cochlear implant, individuals do not typically develop speech. Retinitis pigmentosa develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity. The diagnosis is established on clinical grounds using electrophysiologic and subjective tests of hearing and retinal function. Mutations in genes at six different loci cause Usher syndrome type I. Genes at five of these loci, MYO7A (locus USH1B), USH1C (USH1C), CDH23 (USH1D), PCDH15 (USH1F), and USH1G have been identified. Usher syndrome type 1 may be confused with the contiguous gene deletion syndrome, CHM and deafness with perilymphatic gusher. The scalloped areas of significant chorioretinal degeneration with preservation of the choroidal vessels, typical of CHM, are not seen in Usher syndrome type 1.
  • Gyrate atrophy of the choroid and retina. The progressive nature of scalloped areas of chorioretinal atrophy seen in gyrate atrophy of the choroid and retina may be confused with CHM. Gyrate atrophy of the choroid and retina is an autosomal recessive condition caused by mutations in the gene encoding ornithine aminotransferase. Individuals with gyrate atrophy of the choroid and retina have elevated plasma concentration of ornithine, which is not seen in individuals with CHM.
  • Kearns-Sayre syndrome (KSS) is a multisystem mitochondrial DNA deletion syndrome defined by the triad of onset before age 20 years, pigmentary retinopathy, and progressive external ophthalmoplegia (PEO). In addition, affected individuals have at least one of the following: cardiac conduction block, cerebrospinal fluid protein concentration greater than 100 mg/dL, or cerebellar ataxia. Onset is usually in childhood. Diagnosis of mtDNA deletion syndromes relies upon presence of characteristic clinical findings and, in KSS, changes on muscle biopsy (i.e., ragged-red fibers [RRF] with the modified Gomori trichrome stain, hyperactive fibers with the succinate dehydrogenase [SDH] stain, and failure of both RRF and some non-RRF to stain with the histochemical reaction for cytochrome c oxidase [COX]) and decreased activity of respiratory chain complexes containing mtDNA-encoded subunits in muscle extracts. A "choroideremia-like" fundus appearance was observed in an 18-year-old who had a total loss of retina, retinal pigment epithelium, and choroid, but who had normal-caliber major retinal vessels, a few remaining choroidal vessels, and no optic atrophy. While this clinical presentation may be found in end-stage CHM after age 60 years, the central macula of an 18-year-old with CHM is typically preserved. The affected individual's mother and sister did not show carrier signs of CHM. The later onset of external ophthalmoplegia, hearing loss, ataxia, and insulin-dependent diabetes mellitus in this individual led to the diagnosis of Kearns-Sayre syndrome; a 2309-base pair deletion was identified in mtDNA.


Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with choroideremia (CHM), the following evaluations are recommended:

  • Ophthalmologic examination including visual acuity and Goldmann visual field testing for a baseline
  • Family history
  • Electroretinogram
  • Funduscopic examination

Treatment of Manifestations

Nutrition and ocular health have become increasingly topical:

  • For those individuals who do not have access to fresh fruit and leafy green vegetables, a supplement with antioxidant vitamins may be important.
  • No information is available on the effectiveness of vitamin A supplementation in the treatment of CHM.
  • A source of omega-3 very-long-chain fatty acids, including docosahexaenoic acid, may be beneficial, as clinical studies suggest that a regular intake of fish is important.

Cataract surgery may be required for individuals with a posterior subcapsular cataract.

UV-blocking sunglasses may have a protective role when an affected individual is outdoors.

Low vision services are designed to benefit those whose ability to function is compromised by vision impairment. Low vision specialists, often optometrists, help optimize the use of remaining vision. Services provided vary based on age and needs.

Counseling from organizations or professionals who work with the blind and visually impaired may be needed to help the affected individual cope with issues such as depression, loss of independence, fitness for driving, and anxiety over job loss.


Periodic ophthalmologic examination to monitor progression of CHM is recommended as affected individuals need advice regarding their levels of visual function. Goldmann visual field examinations provide practical information for both the clinician and the affected individual.

Agents/Circumstances to Avoid

UV exposure from sunlight reflected from water and snow should be avoided.

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Gene therapy for individuals with CHM may be a future possibility. Introduction of adenovirus containing the CHM coding region can restore in vitro protein levels and REP-1 activity in CHM-deficient lymphocytes and fibroblasts [Anand et al 2003]. CHM is a likely target for gene therapy with defined clinical parameters that may guide when to intervene and how to monitor the outcome [Jacobson et al 2006].

Note: A gene therapy trial for CHM is currently planned but not yet registered with No public information is available [Author, personal communication].

Search for access to information on clinical studies for a wide range of diseases and conditions.


A small short-term study of lutein oral supplementation (20 mg/day) showed that macular lutein was increased in individuals with CHM who received the supplement [Duncan et al 2002]; however, whether or not such supplementation provides a long-term protective effect is unknown.

A small study of 30 persons, including individuals with CHM, concluded that individuals with CHM already have normal levels of macular carotenoids (e.g., lutein and zeaxanthin). Therefore, diet supplementation is unlikely to alter the clinical course of the disease [Zhao et al 2003].

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Choroideremia (CHM) is inherited in an X-linked manner.

Risk to Family Members

Parents of a proband

  • The father of an affected male will not have CHM nor will he be a carrier of the disease-causing mutation.
  • In a family with more than one affected male, the mother of an affected male is an obligate carrier.
  • If pedigree analysis reveals that the proband is the only affected family member, it is appropriate to examine the retina of the mother through a dilated pupil to determine if she has evidence of carrier status.
  • Possible genetic explanations for a male proband with no family history of CHM (i.e., a simplex case) are:
    • The proband has a de novo mutation. In this instance, the proband's mother does not have a germline mutation and does not have the retinal changes seen in carriers. The only other family members at risk are the offspring of the proband.
    • The proband's mother has a de novo gene mutation and may or may not have the retinal changes seen in carriers. One of two types of de novo gene mutations may be present in the mother:

      A germline mutation that was present at the time of her conception, is present in every cell of her body, and is detectable in her DNA


      A mutation that is present only in her ovaries (termed "germline mosaicism") and is not detectable in the DNA from her leukocytes

    • Germline mosaicism has not been reported in individuals with CHM but it has been observed in many X-linked disorders and should be considered in the genetic counseling of at-risk family members. In both instances a) and b), each offspring of the proband's mother has a risk of inheriting the mutation; none of the sibs of the proband's mother, however, is at risk of inheriting the altered gene.

Sibs of a proband

  • The risk to the sibs of a male proband depends on the genetic status of the mother.
  • If the mother has the mutation, the chance of transmitting the CHM mutation in each pregnancy is 50%. Male sibs who inherit the mutation will be affected; female sibs who inherit the mutation will be carriers and will usually not be affected.
  • When the mother has a normal fundus examination, the risk to the sibs of a proband appears to be low. Although no instances of germline mosaicism have been reported, it remains a possibility.

Offspring of a male proband. Affected males transmit the disease-causing mutation to all of their female offspring and none of their male offspring.

Family members of a proband. If a parent of the proband also has a disease-causing mutation, his or her female family members may be at risk of being carriers (asymptomatic or symptomatic) and his or her male family members may be at risk of being affected, depending on their genetic relationship to the proband.

Carrier Detection

Carrier testing of at-risk female relatives is possible if the mutation has been identified in the family.

Related Genetic Counseling Issues

Family planning

  • The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are carriers, or are at risk of being carriers.

Specific risk issues. It is not possible to predict at what age an affected male will start to experience vision problems and how quickly the disease will progress. It is also not possible to know if a carrier female will manifest any vision loss. At one time, consensus held that carrier females experienced only mild vision disturbances later in life; however, manifesting carriers may have vision loss similar to that of affected males because of skewed X-chromosome inactivation. It is important to note, however, that manifesting carriers are rare.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing

Prenatal diagnosis for pregnancies at increased risk is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed at about 15 to 18 weeks' gestation or chorionic villus sampling (CVS) at about ten to 12 weeks' gestation. The disease-causing allele of an affected family member must be identified before prenatal testing can be performed.

Note: Gestational age is expressed as menstrual weeks calculated either from the first day of the last normal menstrual period or by ultrasound measurements.

Preimplantation genetic diagnosis (PGD) may be an option for some families in which the disease-causing mutation has been identified.


GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • Choroideremia Research Foundation
    23 East Brundreth Street
    Springfield MA 01109-2110
    Phone: 413-781-2274
  • Foundation Fighting Blindness
    11435 Cronhill Drive
    Owings Mill MD 21117-2220
    Phone: 800-683-5555 (toll-free); 800-683-5551 (Toll-free TDD); 410-568-0150; 410-363-7139 (local TDD)
  • National Library of Medicine Genetics Home Reference
  • National Eye Institute
    31 Center Drive
    MSC 2510
    Bethesda MD 20892-2510
    Phone: 301-496-5248
  • eyeGENE® - National Ophthalmic Disease Genotyping Network Registry
    Phone: 301-435-3032

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A. Choroideremia: Genes and Databases

Data are compiled from the following standard references: gene symbol from HGNC; chromosomal locus, locus name, critical region, complementation group from OMIM; protein name from UniProt. For a description of databases (Locus Specific, HGMD) to which links are provided, click here.

Table B. OMIM Entries for Choroideremia (View All in OMIM)


Gene structure. The gene comprises 15 exons. For a detailed summary of gene and protein information, see Table A, Gene Symbol.

Benign allelic variants. Described benign allelic variants include:

Pathogenic allelic variants. Virtually all known mutations in CHM result in the truncation and therefore functional loss of the CHM gene product, REP-1. One exception is the report of an L1 retrotransposon insertion in exon 6 that results in the direct splicing of exon 5 to exon 7 with maintenance of the reading frame. The missing amino acids are part of a conserved region that forms a hydrophobic groove that is proposed to bind geranyl-geranyl groups [van den Hurk et al 2003].

Normal gene product. Rab escort protein-1 (REP-1) is a component of Rab geranylgeranyltransferase, an enzyme complex that mediates correct intracellular vesicular transport.

The REP1 protein functions in the prenylation (covalent addition of 20-carbon geranylgeranyl units) to Rab GTPases. Lymphocytes from individuals with CHM show marked inability to prenylate Rab proteins, in particular Rab27A. Rab proteins have a role in organelle formation and trafficking of vesicles in exocytic and endocytic pathways [Seabra et al 2002]. In an individual with choroideremia, REP-2, a protein that is functionally similar to REP-1, may compensate for the loss of REP-1 function in all but the retinal cells.

Larijani et al [2003] showed that the REP-1-Rab27A complex was prenylated more efficiently in vitro than the REP-2-Rab27A complex. GDP-bound Rabs are the preferred substrate for REPs, whereas Rab27A was shown to have a slower rate of intrinsic hydrolysis than other Rabs. Based on these observations, Larijani et al [2003] suggest that the prenylation defect underlying CHM is twofold:


Rab27A relies solely on prenylation by the already less efficient REP-2.


The innately slower GTP hydrolysis of Rab27A results in a higher proportion of the inactive form of this molecule, which is unable to bind REPs.

Alternatively, Rak et al [2004] demonstrated that Rab7 successfully out-competed Rab27A in vitro for prenylation and proposed that when REP-1 function is lost, all prenylation function is provided by REP-2; however, Rab molecules with a higher affinity for REP-2 compete with Rab27A for prenylation. The molecular pathogenesis of CHM remains speculative.

Abnormal gene product. Truncated and putatively lost


Literature Cited

  1. Anand V, Barral DC, Zeng Y, Brunsmann F, Maguire AM, Seabra MC, Bennett J. Gene therapy for choroideremia: in vitro rescue mediated by recombinant adenovirus. Vision Res. 2003;43:919–26. [PubMed: 12668061]
  2. Duncan JL, Aleman TS, Gardner LM, De Castro E, Marks DA, Emmons JM, Bieber ML, Steinberg JD, Bennett J, Stone EM, MacDonald IM, Cideciyan AV, Maguire MG, Jacobson SG. Macular pigment and lutein supplementation in choroideremia. Exp Eye Res. 2002;74:371–81. [PubMed: 12014918]
  3. Fujiki K, Hotta Y, Hayakawa M, Saito A, Mashima Y, Mori M, Yoshii M, Murakami A, Matsumoto M, Hayasaka S, Tagami N, Isashiki Y, Ohba N, Kanai A. REP-1 gene mutations in Japanese patients with choroideremia. Graefes Arch Clin Exp Ophthalmol. 1999;237:735–40. [PubMed: 10447648]
  4. Jacobson SG, Cideciyan AV, Sumaroka A, Aleman TS, Schwartz SB, Windsor EA, Roman AJ, Stone EM, MacDonald IM. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. Invest Ophthalmol Vis Sci. 2006;47:4113–20. [PubMed: 16936131]
  5. Larijani B, Hume AN, Tarafder AK, Seabra MC. Multiple factors contribute to inefficient prenylation of Rab27a in Rab prenylation diseases. J Biol Chem. 2003;278:46798–804. [PubMed: 12941939]
  6. Lee TK, McTaggart KE, Sieving PA, Heckenlively JR, Levin AV, Greenberg J, Weleber RG, Tong PY, Anhalt EF, Powell BR, MacDonald IM. Clinical diagnoses that overlap with choroideremia. Can J Ophthalmol. 2003;38:364–72. [PubMed: 12956277]
  7. Lorda-Sanchez IJ, Ibanez AJ, Sanz RJ, Trujillo MJ, Anabitarte ME, Querejeta ME, Rodriguez de Alba M, Gimenez A, Infantes F, Ramos C, Garcia-Sandoval B, Ayuso C. Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation. Ophthalmic Genet. 2000;21:185–9. [PubMed: 11035551]
  8. MacDonald IM, Mah DY, Ho YK, Lewis RA, Seabra MC. A practical diagnostic test for choroideremia. Ophthalmology. 1998;105:1637–40. [PubMed: 9754170]
  9. MacDonald IM, Sereda C, McTaggart K, Mah D. Choroideremia gene testing. Expert Rev Mol Diagn. 2004;4:478–84. [PubMed: 15225095]
  10. McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM. Mutational analysis of patients with the diagnosis of choroideremia. Hum Mutat. 2002;20:189–96. [PubMed: 12203991]
  11. Preising MN, Wegscheider E, Friedburg C, Poloschek CM, Wabbels BK, Lorenz B. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data. Ophthalmology. 2009;116:1201–9. [PubMed: 19376587]
  12. Rak A, Pylypenko O, Niculae A, Pyatkov K, Goody RS, Alexandrov K. Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease. Cell. 2004;117:749–60. [PubMed: 15186776]
  13. Roberts MF, Fishman GA, Roberts DK, Heckenlively JR, Weleber RG, Anderson RJ, Grover S. Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia. Br J Ophthalmol. 2002;86:658–62. [PMC free article: PMC1771148] [PubMed: 12034689]
  14. Schwartz M, Rosenberg T. Prenatal diagnosis of choroideremia. Acta Ophthalmol Scand Suppl. 1996;219:33–6. [PubMed: 8741114]
  15. Seabra MC, Mules EH, Hume AN. Rab GTPases, intracellular traffic and disease. Trends Mol Med. 2002;8:23–30. [PubMed: 11796263]
  16. Sieving PA, Niffenegger JH, Berson EL. Electroretinographic findings in selected pedigrees with choroideremia. Am J Ophthalmol. 1986;101:361–7. [PubMed: 3953730]
  17. van den Hurk JA, Schwartz M, van Bokhoven H, van de Pol TJ, Bogerd L, Pinckers AJ, Bleeker-Wagemakers EM, Pawlowitzki IH, Ruther K, Ropers HH, Cremers FP. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. Hum Mutat. 1997;9:110–7. [PubMed: 9067750]
  18. van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP. Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Hum Genet. 2003;113:268–75. [PubMed: 12827496]
  19. Yau RJ, Sereda CA, McTaggart KE, Sauve Y, MacDonald IM. Choroideremia carriers maintain a normal electro-oculogram (EOG). Doc Ophthalmol. 2007;114:147–51. [PubMed: 17333094]
  20. Yntema HG, van den Helm B, Kissing J, van Duijnhoven G, Poppelaars F, Chelly J, Moraine C, Fryns JP, Hamel BC, Heilbronner H, Pander HJ, Brunner HG, Ropers HH, Cremers FP, van Bokhoven H. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Genomics. 1999;62:332–43. [PubMed: 10644430]
  21. Zhao DY, Wintch SW, Ermakov IV, Gellermann W, Bernstein PS. Resonance Raman measurement of macular carotenoids in retinal, choroidal, and macular dystrophies. Arch Ophthalmol. 2003;121:967–72. [PubMed: 12860799]

Suggested Reading

  1. MacDonald IM, Russell L, Chan CC. Choroideremia: new findings from ocular pathology and review of recent literature. Surv Ophthalmol. 2009;54:401–7. [PMC free article: PMC2679958] [PubMed: 19422966]
  2. Sandberg MA, Gaudio AR. Reading speed of patients with advanced retinitis pigmentosa or choroideremia. Retina. 2006;26:80–8. [PubMed: 16395143]
  3. Cremers FPM, Ropers H-H. Choroideremia. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G, eds. The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID). New York, NY: McGraw-Hill. Chap 236. Available online. 2014. Accessed 6-23-14.

Chapter Notes

Author History

Ian M MacDonald, MD, CM (2003-present)
Kerry McTaggart, MSc; University of Alberta (2003-2007)
Meira R Meltzer, MA, MS, CGC (2007- 2010)
Miguel C Seabra, MD, PhD (2003-present)
Christina Sereda, MSc; University of Alberta (2003-2007)
Nizar Smaoui, MD (2007-present)

Revision History

  • 3 June 2010 (me) Comprehensive update posted live
  • 28 May 2008 (cd) Revision: duplication/deletion analysis available clinically
  • 3 May 2007 (me) Comprehensive update posted to live Web site
  • 29 December 2004 (me) Comprehensive update posted to live Web site
  • 2 January 2004 (im) Revision: testing
  • 7 May 2003 (im) Revision: Molecular genetic testing; prenatal diagnosis
  • 21 February 2003 (me) Review posted to live Web site
  • 2 December 2002 (im) Original submission
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