Choroideremia is a condition where three retinal layers — the choroid beneath, the retinal pigment epithelium above it, and the photoreceptors sitting on top — break down as a single unit instead of separately. Being X-linked in its inheritance, it appears almost exclusively in boys and men, while women carrying the gene typically get by with only subtle changes that rarely make any real difference to their day-to-day vision.
It’s common for the diagnosis to surface after a routine fundus photograph on a male family member catches an ophthalmologist’s attention as not quite fitting the usual RP picture — an appearance distinctive enough that genetic confirmation of choroideremia is worth pursuing, rather than settling for a general retinal-dystrophy label.
10+
years Experience
years Experience
5000+
Patients treated
Patients treated
100+
Countries served
Countries served
NABH
Guided facility
Guided facility
Ocular Symptoms
Childhood-onset night blindness is almost always the earliest indicator, showing up well before any other change. From there, the visual field steadily contracts through the teenage years and into adulthood. The real hallmark of choroideremia, though, is how much longer central vision survives compared with most other inherited retinal diseases — sometimes by several decades — even though it isn’t guaranteed to last forever, and can eventually decline once the macula becomes involved, typically in mid-to-late adulthood.
Underlying Causes
A mutation in the CHM gene, located on the X chromosome, is at the root of the condition, depriving cells across the choroid, RPE, and photoreceptor layers of the REP1 protein essential for their survival. Given the X-linked pattern, a carrier mother has roughly even odds of passing the mutation to each son, who would then be affected, and roughly even odds of passing carrier status to each daughter.
Diagnostic Evaluation
A scalloped, moth-eaten appearance on fundus examination, as the choroid and RPE progressively thin, is a fairly characteristic sign of choroideremia, and together with OCT and electroretinography findings, it usually helps set the condition apart from other rod-cone dystrophies early on. A genetic test confirming the CHM mutation settles the diagnosis conclusively and is particularly useful for determining 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
Since central vision in choroideremia tends to remain functional for such a long stretch, treatment is oriented around protecting that window for as long as feasible. We consider regenerative stem cell therapy for eligible patients as one component of that plan, along with regular tracking of disease progression and early planning for low-vision support ahead of any anticipated central-vision changes.
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 affect men so much more often than women?
” It’s a consequence of X-linked inheritance. Men carry a single X chromosome, so one defective CHM gene is enough to trigger the disease. Women carry two, and the intact copy in carriers is usually enough to prevent any serious vision loss, though occasional mild changes can occur.
”
I’m a known carrier — is it inevitable that my sons will be affected?
”
No — statistically, each son has close to a fifty percent chance of inheriting the mutation, and each daughter has close to a fifty percent chance of being a carrier herself. A genetic test can give your family a more precise answer.”
Is it possible to distinguish this from ordinary RP on examination alone?
“Often, yes. The distinctive scalloped thinning across the choroid and RPE together sets choroideremia apart from the more uniform photoreceptor loss typical of classic RP, and an experienced retina specialist can usually recognise the difference — though a genetic test remains the definitive confirmation.”
What’s the right time to begin monitoring or thinking about treatment?
“Generally, sooner is better, since it preserves the widest range of options while central vision is still intact. We’d prefer to assess a patient well before central-vision symptoms develop rather than after they’ve already begun.”
