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PubMed This is a summary of 18 peer-reviewed journal articles Updated
Ophthalmology

Survivorship, Quality of Life & Building Your Care Team

At a Glance

Living with Choroideremia requires proactive adaptation and a strong multidisciplinary care team. By working with retinal specialists, low vision experts, and mental health professionals, patients can effectively manage vision changes, reduce scan anxiety, and maintain independence.

Living with Choroideremia (CHM) is a lifelong journey that requires more than just medical imaging; it requires a strategy for maintaining your independence, your mental health, and your quality of life. Because CHM is a slow-moving, progressive condition, you have the benefit of time—time to build a support network, time to master new technologies, and time to adapt to changes as they come [1][2].

The “Care Team” Approach

Managing a progressive condition is too big a job for one doctor. A multidisciplinary care team ensures that every aspect of your life—not just your eyes—is supported [3].

  • Retinal Specialist: This is your lead medical doctor. They should specialize in Inherited Retinal Diseases (IRD) and be proficient in reading FAF and OCT scans [4][5].
  • Genetic Counselor: Essential for understanding your specific mutation, navigating family planning, and ensuring you are registered for relevant clinical trials [6][4].
  • Low Vision Specialist: Unlike a regular optometrist, this specialist focuses on maximizing the vision you do have using high-powered magnifiers, specialized lighting, and digital aids [7][8].
  • Vocational Rehabilitation Specialist: Figuring out how to maintain employment as your vision changes is a major source of stress. These professionals help you adapt your workspace, learn new software, or transition careers if necessary [9].
  • Orientation & Mobility (O&M) Specialist: These experts teach you how to navigate safely in dim light or with a narrowed visual field. Starting this training early—before you “need” it—is a powerful way to reduce the fear of the future [10].
  • Mental Health Professional: Chronic, progressive loss often brings a form of anticipatory grief. A therapist who understands chronic illness can help you manage the emotional burden and the anxiety that often accompanies medical appointments [11][12].

Addressing “Scan Anxiety”

Many patients experience a spike in stress before their annual check-ups, often called scan anxiety. This stems from the fear that the newest imaging will show significant “shrinkage” of their remaining visual islands [13][14].

To manage this:

  • Frame the Data: Remember that the scan is a tool for planning, not a judgment on your worth or your future.
  • Request Clear Communication: Ask your doctor to walk you through the results using a “functional” lens—focusing on what you can still do, rather than just the millimeters lost [15].
  • Validated Screening: Tools like the Michigan Vision-related Anxiety Questionnaire (MVAQ) can help you and your doctor identify if your anxiety has reached a level where professional intervention might be helpful [16].

Preparing for the Future with Low Vision

Survivorship in CHM is about proactive adaptation. As your peripheral vision constricts, you can lean on assistive technology to stay productive and independent:

  • Digital Accessibility: Modern tablets and smartphones have built-in screen magnifiers, high-contrast modes, and voice-over features that are incredibly effective for CHM patients [9][17].
  • Home Modifications: Improving the lighting in your home—specifically using “task lighting” in kitchens and hallways—can significantly reduce the risk of trips and falls [7].
  • Community Connection: Joining groups like the Choroideremia Research Foundation or the Foundation Fighting Blindness connects you with others who are successfully navigating the same path. You are not alone in this experience [18].

The goal of your care team is to ensure that while your vision may change, your ability to live a full, meaningful, and independent life does not [11][8].

Common questions in this guide

What kind of doctors should be on my Choroideremia care team?
A multidisciplinary care team for Choroideremia should include a retinal specialist who treats inherited retinal diseases, a genetic counselor, a low vision specialist, and mental health professionals. Specialists in vocational rehabilitation and mobility training are also crucial as the disease progresses.
How can I manage anxiety before my eye exams?
Scan anxiety is a common spike in stress before annual check-ups. You can manage this by framing the scan as a planning tool, asking your doctor to focus on your functional vision rather than just tissue loss, and using coping strategies like breathing exercises.
What does a low vision specialist do for CHM?
Unlike a standard optometrist, a low vision specialist focuses on maximizing your remaining vision. They prescribe high-powered magnifiers, recommend specialized lighting, and teach you how to use digital assistive aids effectively.
How can I prepare my home for progressive vision loss?
You can make proactive home modifications, such as adding specialized task lighting in kitchens and hallways. Brighter, targeted lighting significantly reduces the risk of tripping and falling as your peripheral vision narrows.
When should I start orientation and mobility training?
It is highly recommended to start orientation and mobility (O&M) training early, even before you feel it is absolutely necessary. Learning to navigate safely with a narrowed visual field ahead of time helps build confidence and reduces fear of the future.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Do you have a low-vision rehabilitation specialist you work with regularly who understands the 'tunnel vision' progression of CHM?
  2. 2.Can you recommend a therapist or counselor who specializes in chronic, progressive conditions or 'anticipatory grief'?
  3. 3.Are there specific vocational rehabilitation services you can refer me to so I can adapt my workspace for the future?
  4. 4.What are the best local resources for orientation and mobility (O&M) training in my area?
  5. 5.How can we make my annual imaging visits less stressful—can we discuss the results in a way that focuses on functional stability?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (18)
  1. 1

    Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis.

    Bozkaya D, Zou H, Lu C, et al.

    BMC ophthalmology 2022; (22(1)):29 doi:10.1186/s12886-022-02250-z.

    PMID: 35034620
  2. 2

    Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey.

    Bonneau S, Kulbay M, Kahn-Ali S, Qian CX

    Ophthalmic genetics 2024; (45(5)):452-461 doi:10.1080/13816810.2024.2357705.

    PMID: 38847528
  3. 3

    X-linked Choroideremia.

    Tsang SH, Sharma T

    Advances in experimental medicine and biology 2018; (1085()):37-42 doi:10.1007/978-3-319-95046-4_9.

    PMID: 30578482
  4. 4

    Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.

    Guo H, Li J, Gao F, et al.

    BMC ophthalmology 2015; (15()):85 doi:10.1186/s12886-015-0081-4.

    PMID: 26216097
  5. 5

    Long-term Natural History of Atrophy in Eyes with Choroideremia-A Systematic Review and Meta-analysis of Individual-Level Data.

    Shen LL, Ahluwalia A, Sun M, et al.

    Ophthalmology. Retina 2020; (4(8)):840-852 doi:10.1016/j.oret.2020.03.003.

    PMID: 32362554
  6. 6

    A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping.

    Waldock WJ, Taylor LJ, Sperring S, et al.

    Ophthalmic genetics 2024; (45(2)):210-217 doi:10.1080/13816810.2023.2270554.

    PMID: 38273808
  7. 7

    Mapping the Outcomes of Low-Vision Rehabilitation: A Scoping Review of Interventions, Challenges, and Research Gaps.

    Ekemiri K, Adebo O, Ekemiri C, et al.

    Vision (Basel, Switzerland) 2026; (10(1)) doi:10.3390/vision10010003.

    PMID: 41562954
  8. 8

    Low vision rehabilitation in improving the quality of life for patients with impaired vision: A systematic review and meta-analysis of 52 randomized clinical trials: Retraction.

    Medicine 2021; (100(28)):e26669 doi:10.1097/MD.0000000000026669.

    PMID: 34260576
  9. 9

    Digital Physiotherapeutic Vision-Specific Training System for Patients with Diabetic Retinopathy: A Propensity Score-Matched Retrospective Cohort Study.

    Ni L, Zhou Q, Fan M, et al.

    Ophthalmology and therapy 2026; (15(1)):373-391 doi:10.1007/s40123-025-01283-z.

    PMID: 41317269
  10. 10

    Rehabilitation Methods for Patients with Geographic Atrophy due to Age-Related Macular Degeneration and Effects of Rehabilitation on Quality of Life.

    Erginturk Acar D, Batioglu F, Idil A, et al.

    Journal of ophthalmology 2023; (2023()):3389750 doi:10.1155/2023/3389750.

    PMID: 37455795
  11. 11

    Impact of inherited retinal diseases on Canadian patients and families: a mixed-methods study.

    Kherani IZ, Andrews C, Pereira JA, et al.

    Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2023; (58(6)):532-538 doi:10.1016/j.jcjo.2022.06.021.

    PMID: 35905942
  12. 12

    High Prevalence of Untreated Depression in Patients Accessing Low-Vision Services.

    Nollett CL, Bray N, Bunce C, et al.

    Ophthalmology 2016; (123(2)):440-441 doi:10.1016/j.ophtha.2015.07.009.

    PMID: 26278862
  13. 13

    Raised Anxiety Levels Among Outpatients Preparing to Undergo a Medical Imaging Procedure: Prevalence and Correlates.

    Forshaw KL, Boyes AW, Carey ML, et al.

    Journal of the American College of Radiology : JACR 2018; (15(4)):630-638 doi:10.1016/j.jacr.2017.12.030.

    PMID: 29503146
  14. 14

    Prevalence and impact of scan-related anxiety during coronary CT angiography: A prospective cohort study of 366 patients.

    Ohana M, Sellers SL, Mooney J, et al.

    Journal of cardiovascular computed tomography 2018; (12(5)):364-371 doi:10.1016/j.jcct.2018.04.013.

    PMID: 29752224
  15. 15

    Prevalence and correlates of patient-centred preparatory information provision to computed tomography and magnetic resonance imaging outpatients: A cross-sectional study.

    Hyde L, Mackenzie L, Boyes AW, et al.

    Patient education and counseling 2018; (101(10)):1814-1822 doi:10.1016/j.pec.2018.05.025.

    PMID: 29884532
  16. 16

    The Michigan Vision-Related Anxiety Questionnaire: A Psychosocial Outcomes Measure for Inherited Retinal Degenerations.

    Lacy GD, Abalem MF, Andrews CA, et al.

    American journal of ophthalmology 2021; (225()):137-146 doi:10.1016/j.ajo.2020.12.001.

    PMID: 33309692
  17. 17

    Telerehabilitation Training to Facilitate Improved Reading Ability with New Magnification Devices for Low Vision.

    Bittner AK, Kaminski JE, Ross NC, et al.

    Optometry and vision science : official publication of the American Academy of Optometry 2022; (99(10)):743-749 doi:10.1097/OPX.0000000000001944.

    PMID: 36067410
  18. 18

    Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation.

    Mansfield BC, Yerxa BR, Branham KH

    American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(3)):838-845 doi:10.1002/ajmg.c.31825.

    PMID: 32783387

This page provides educational information on managing quality of life with Choroideremia and building a supportive care team. It does not replace professional medical or mental health advice; always consult your healthcare providers regarding your specific needs and condition.

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