Choroideremia is an X-linked inherited retinal condition that affects three layers at once — the choroid, the retinal pigment epithelium, and the photoreceptors — leading to their progressive, coordinated degeneration. Because of its X-linked inheritance, it almost always presents in males, while female carriers usually have mild, non-progressive changes that rarely affect vision meaningfully.
Somali families are often referred after a male relative shows a fundus appearance that a local ophthalmologist recognises as atypical for standard retinitis pigmentosa, prompting genetic confirmation of choroideremia specifically.
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years Experience
years Experience
5000+
Patients treated
Patients treated
100+
Countries served
Countries served
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Guided facility
Guided facility
Symptoms of Choroideremia
Night blindness usually begins in childhood, well before other visual complaints, followed by a slow constriction of the peripheral visual field through adolescence and early adulthood. Central vision is typically preserved for decades relative to other inherited retinal diseases, though it can eventually decline in mid-to-late adulthood as degeneration spreads toward the macula.
Causes of Choroideremia
Choroideremia is caused by mutations in the CHM gene on the X chromosome, which leads to a deficiency of the REP1 protein needed for normal function and survival of cells in the choroid, RPE, and photoreceptor layers. Because the gene sits on the X chromosome, sons of a carrier mother have a one-in-two chance of being affected, while daughters have a one-in-two chance of becoming carriers themselves.
Diagnosis for Somali Patients
Fundus examination in choroideremia often shows a distinctive scalloped pattern of atrophy as the choroid and RPE thin, which combined with electroretinography and OCT imaging helps distinguish it from other rod-cone dystrophies. Genetic testing for CHM mutations provides definitive confirmation and is particularly useful for identifying carrier status in 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 window during which central vision remains intact, the emphasis in choroideremia care is on supporting retinal health for as long as possible. Regenerative stem cell therapy is considered for eligible patients as part of this supportive strategy, alongside close monitoring of the advancing edge of degeneration and low-vision planning 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 mainly affect men and not women
“Why does choroideremia mainly affect men and not women.”
If I am a carrier, will my sons definitely have choroideremia?
”
Each son of a carrier mother has roughly a one-in-two chance of inheriting the mutated gene and being affected, and each daughter has roughly a one-in-two chance of becoming a carrier herself. Genetic testing can clarify individual risk with more certainty.”
How is choroideremia different from typical retinitis pigmentosa on examination
“The pattern of atrophy tends to have a distinctive scalloped appearance 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.”
At what stage of the disease is it most useful to start monitoring or treatment discussions?
“Earlier evaluation generally allows more options to be discussed while central vision remains intact, so we encourage families not to wait until central vision symptoms appear before seeking a specialist assessment.”
