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 Tanzania 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.

Associate Professor, Vitreo-Retina Surgeon. 10+ Years Experience

Senior Consultant Ophthalmologist & Eye Surgeon· 26+ yrs experience

Consultant Ophthalmologist & Eye Surgeon, MD, DO .16+ Years Experience
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.
“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.”
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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.”
“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.”
“Type is established through the severity and pattern of hearing loss, whether balance is affected, and the age retinal symptoms first appeared — ideally confirmed with genetic testing. It shapes the prognosis discussion specifically, though our general approach to retinal evaluation stays fairly consistent across all three types.”
