Choroideremia is an X-linked inherited retinal condition that affects three layers of the eye at once — the choroid, the retinal pigment epithelium, and the photoreceptors — leading to their coordinated, progressive breakdown. Because of how it is inherited, it almost always shows up in males, while female carriers typically experience only mild, non-progressive changes that rarely have a meaningful effect on vision.
Ghanaian families are often referred once a male relative’s fundus appearance strikes a local ophthalmologist as atypical for standard retinitis pigmentosa, prompting genetic testing to confirm choroideremia specifically.
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Ocular Symptoms
Night blindness usually sets in during childhood, well ahead of any other visual complaints, followed by a slow narrowing of the peripheral field through adolescence and into early adulthood. Central vision is typically preserved for decades compared with other inherited retinal diseases, though it can eventually decline in mid-to-late adulthood as degeneration spreads toward the macula.
Underlying Causes
Choroideremia results from mutations in the CHM gene on the X chromosome, leading to a shortage of the REP1 protein needed for the normal function and survival of cells in the choroid, RPE, and photoreceptor layers. Because the gene is carried on the X chromosome, sons born to a carrier mother have roughly a one-in-two chance of being affected, while daughters have roughly a one-in-two chance of becoming carriers themselves.
Diagnosis for Ghanaian Patients
A fundus examination in choroideremia frequently reveals a distinctive scalloped pattern of thinning as the choroid and RPE atrophy, which together with electroretinography and OCT imaging helps distinguish it from other rod-cone dystrophies. Genetic testing for CHM mutations gives a definitive answer and is particularly valuable for identifying carrier status among female relatives.
Meet The Team
Our Eye Specialists
Dr. Pawan
Associate Professor, Vitreo-Retina Surgeon. 10+ Years Experience
Retinal disorders, diabetic retinopathy, and advanced retina procedures. Provides diagnostic evaluation and treatment planning for international patients.
Dr.Pallavee
Senior Consultant Ophthalmologist & Eye Surgeon· 26+ yrs experience
Areas of Focus: Cataract surgery, corneal disorders, refractive procedures, and glaucoma management. Provides comprehensive eye care and surgical expertise for global patients.
Dr. Robin
Consultant Ophthalmologist & Eye Surgeon, MD, DO .16+ Years Experience
Areas of Focus: Cataract surgery, corneal disorders, refractive procedures, and glaucoma management. Provides comprehensive eye care and surgical expertise for global patients.
Treatment Approach in India
Given the relatively long stretch during which central vision typically remains intact, care for choroideremia focuses on supporting retinal health for as long as possible. Regenerative stem cell therapy is considered for eligible patients as part of that supportive strategy, alongside close monitoring of the advancing edge of degeneration and low-vision planning ahead of any expected changes to central vision.
Reviews
What Our Patients Say
DR NAAGALAKSHMI R
1 week ago
Asha Babbar
2 weeks ago
The overall experience at the RP Treatment Center was very good. The staff was supportive and caring, and we provided proper attention and guidance during treatment. The environment at the center was clean and comfortable. The doctors and staff tried to understand patients' needs and explained the treatment process well.
Overall, I am satisfied with the service and care. Highly recommended!
Overall, I am satisfied with the service and care. Highly recommended!
Harshita Kapoor
2 weeks ago
Life‑Changing Experience with RP Therapy”
After years of struggling with vision loss due to Retinitis Pigmentosa, I finally found hope here. The doctors were highly professional, explained the stem cell treatment in detail, and gave me confidence at every step. The therapy was smooth, and I’ve already noticed positive changes in my daily life. Their dedication, care, and advanced medical approach make this center truly trustworthy
After years of struggling with vision loss due to Retinitis Pigmentosa, I finally found hope here. The doctors were highly professional, explained the stem cell treatment in detail, and gave me confidence at every step. The therapy was smooth, and I’ve already noticed positive changes in my daily life. Their dedication, care, and advanced medical approach make this center truly trustworthy
Yash Chauhan
2 weeks ago
I had a really good experience at RP Treatment Centre. The doctor listened to my problem patiently and explained the treatment in a simple way. The staff was polite and the clinic was clean. I started feeling better after the treatment. Highly recommended!
pragya chauhan
2 weeks ago
Very satisfied with the service. The doctor is experienced and gives proper attention to every patient. The staff is friendly, and the overall environment is comfortable. Thank you, RP Treatment Centre, for the excellent care.
Manisha kapoor
2 weeks ago
I had been struggling with Retinitis Pigmentosa for years, and finding this center was truly life‑changing. The doctors provided a thorough medical evaluation and explained every step of the stem cell therapy process with clarity. The treatment was smooth, professional, and I noticed encouraging improvements in my vision within weeks. Their continuous follow‑up care and compassionate support made me feel confident throughout the journey. Highly recommended for anyone seeking advanced RP treatment in India.
Frequently Asked Questions
Why does choroideremia mostly affect men rather than women?
“Because the responsible gene, CHM, sits on the X chromosome. Men carry only one X chromosome, so a single altered copy is enough to cause the condition. Women have two X chromosomes, and the healthy copy in carriers is usually enough to prevent any significant vision loss, though very mild changes are sometimes seen.”
If I’m a carrier, will my sons definitely be affected?
”
Each son born to a carrier mother has roughly a one-in-two chance of inheriting the altered gene and being affected, and each daughter has roughly a one-in-two chance of becoming a carrier herself. Genetic testing can narrow down individual risk with far more certainty.”
How does choroideremia look different from typical retinitis pigmentosa on examination?
“The pattern of thinning tends to have a distinctive scalloped look involving the choroid and RPE together, which an experienced retina specialist can often distinguish from the more uniform photoreceptor loss seen in classic RP — though genetic testing is used to confirm the diagnosis either way.”
At what stage is it most useful to start monitoring or discussing treatment?
“Earlier evaluation generally leaves more options open for discussion while central vision is still intact, so we encourage families not to wait until central vision symptoms show up before seeking a specialist assessment.”
