Picture three layers of the retina breaking down together rather than on their own — the choroid, the retinal pigment epithelium, and the photoreceptors sitting above them. That combination defines choroideremia, an X-linked condition that, because of how it is inherited, appears almost exclusively in males; female carriers typically experience only mild changes that rarely have any real impact on vision.
Patients from Zambia often reach us after a male relative’s fundus examination revealed something a local ophthalmologist recognised as unusual for standard RP — a pattern distinctive enough to warrant genetic confirmation of choroideremia rather than a general retinal dystrophy diagnosis.
10+
years Experience
years Experience
5000+
Patients treated
Patients treated
100+
Countries served
Countries served
NABH
Guided facility
Guided facility
Ocular Symptoms
Night blindness in childhood is usually the earliest sign to appear, well before anything else changes. Peripheral vision then narrows steadily through the teenage years and into adulthood. What makes choroideremia distinctive is how long central vision typically survives — often for decades relative to most other inherited retinal conditions — though it can eventually decline in mid-to-late adulthood once degeneration reaches the macula.
Underlying Causes
The condition stems from mutations in the CHM gene on the X chromosome, which leave cells in the choroid, RPE, and photoreceptor layers deprived of the REP1 protein needed for their survival and function. Because the gene is located on the X chromosome, a carrier mother passes roughly a one-in-two chance of being affected to each son, and roughly a one-in-two chance of carrier status to each daughter.
Diagnosis for Zambian Patients
A fundus examination in choroideremia often reveals a distinctive scalloped pattern as the choroid and RPE thin out — combined with electroretinography and OCT imaging, this appearance usually helps distinguish it from other rod-cone dystrophies fairly early on. Genetic testing for CHM mutations provides a definitive answer and is especially useful for confirming 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
Because central vision typically remains intact for such an extended stretch, care for choroideremia focuses heavily on protecting retinal health for as long as that window lasts. Regenerative stem cell therapy is considered for eligible patients as part of that approach, alongside close tracking of how far the degeneration has advanced 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 this condition mostly affect men?
“It comes down to where the CHM gene is located — on the X chromosome. Men carry only one X chromosome, so a single faulty copy is enough to cause the condition. Women carry two, and the healthy copy in carriers is usually sufficient to prevent significant vision loss, though occasionally mild changes do appear.”
As a carrier, are my sons certain to be affected?
”
Not certain — each son of a carrier mother has roughly a one-in-two chance of inheriting the faulty gene, and each daughter has roughly a one-in-two chance of becoming a carrier herself. Genetic testing can provide a more precise answer for your particular family.”
How would a specialist tell this apart from typical RP just from examining the eye?
“The scalloped pattern of atrophy involving both the choroid and RPE together is fairly distinctive, and an experienced retina specialist can often recognise the difference from the more uniform photoreceptor loss seen in classic RP — though genetic testing is what ultimately confirms it.”
When is the right time to start monitoring or discussing treatment?
“Earlier is generally better, since it keeps more options open while central vision remains intact. Seeking a specialist assessment well before central vision symptoms appear is preferable to waiting until they do.”
