Imagine three retinal layers deteriorating in tandem rather than independently — the choroid, the retinal pigment epithelium, and the photoreceptors resting above them. That combination defines choroideremia, an X-linked condition that, owing to its inheritance pattern, appears almost exclusively in males; female carriers generally experience only mild changes that rarely affect vision in any meaningful way.
Patients from Nigeria often arrive after a male relative’s fundus examination revealed something a local ophthalmologist recognised as atypical 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 period, 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 monitoring of degeneration and low-vision planning ahead of any anticipated changes to central vision.
“It comes down to the location of the CHM gene — on the X chromosome. Men have only one X chromosome, so a single faulty copy is enough to cause the condition. Women have two, and the healthy copy in carriers is usually sufficient to prevent significant vision loss, though occasional mild changes can appear.”
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Not definitely — each son of a carrier mother has roughly a fifty percent chance of inheriting the faulty gene, and each daughter has roughly a fifty percent chance of becoming a carrier herself. Genetic testing can offer a more precise answer for your specific family.”
“The scalloped pattern of atrophy affecting 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 ultimately confirms it.”
“Earlier is generally better, since it preserves more options while central vision remains intact. A specialist assessment is worth seeking well before central vision symptoms appear, rather than waiting until they do.”
