Picture three retinal layers degenerating in step with one another rather than separately — the choroid, the retinal pigment epithelium, and the photoreceptors sitting on top. That’s choroideremia, an X-linked condition that, because of how it’s inherited, shows up almost exclusively in males; female carriers usually experience only mild changes that rarely have a real impact on vision.
Patients from Kenya often reach us after a male relative’s fundus exam turned up something a local ophthalmologist flagged as unusual for standard RP — a pattern distinctive enough to warrant genetic confirmation of choroideremia specifically, rather than a broader retinal dystrophy label.

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 stays intact for such a long stretch, care for choroideremia leans 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 sits — 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 enough to prevent significant vision loss, though occasionally very mild changes do show up.”
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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. Genetic testing can give a more precise answer for your specific family.”
“The scalloped pattern of atrophy involving both the choroid and RPE together is fairly distinctive, and an experienced retina specialist can often spot the difference from the more uniform photoreceptor loss seen in classic RP — though genetic testing is what ultimately confirms it.”
“Earlier is generally better, since it keeps more options open while central vision is still intact. We’d encourage seeking a specialist assessment well before central vision symptoms show up, rather than waiting until they do.”
