Picture three retinal layers breaking down together rather than separately — the choroid, the retinal pigment epithelium, and the photoreceptors resting on top of them. That is choroideremia, an X-linked condition that, because of how it is inherited, shows up almost exclusively in males; female carriers usually experience only mild changes that rarely have a meaningful impact on vision.
Patients from Mexico 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
“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 would encourage seeking a specialist assessment well before central vision symptoms show up, rather than waiting until they do.”
