Choroideremia, there is no therapy yet, but yes to sunglasses, vegetables and omega 3

Choroideremia, there is no therapy yet, but yes to sunglasses, vegetables and omega 3

A reader asks for confirmation on the supplement-based therapy prescribed for this form of retinal degeneration which is transmitted genetically and for which there is currently no therapy. He replies Rosalia Giustolisihead of the Maculopathy Diagnosis and Treatment Center at the Umberto I Polyclinic in Rome.


“I am 40 years old and I suffer from choroideremia. I know that for the moment there is no cure, but I would like to ask you if there is a drug that at least slows down this disease. The old ophthalmologist advised me to take Omega 3 supplements , lutein, zeaxanthin, and N-acetyl cysteine. What do you think? Regarding sunglasses, which lenses do you recommend I use?”


Dear reader, choroideremia (CHM) is a degeneration of the retina that is transmitted genetically and since the alteration is present on the X chromosome, males become ill and females are generally healthy carriers of the disease. In those suffering from choroideremia, the REP1 protein, present throughout our body, is not produced; To date, over 500 variants of this genetic alteration have been reported.

The missing protein (REP1) has the function of promoting the metabolic processes of cells in general, but the retina and specifically the retinal pigmented epithelium and the retinal photoreceptors, are more sensitive to the dysfunction of this protein which is why the eye is target organ of this genetic pathology.

Choroideremia, therefore, causes a visual dysfunction that progresses over many years: there is a degeneration of the retina, and later also of the choroid, which begins in the middle periphery and extends both towards the extreme periphery and towards the central area retinal. Poor vision in the dark is commonly the first symptom in affected males, usually in preadolescence, leading to difficulty seeing at night and loss of peripheral visual field, with central vision preserved until late in life.


Although female carriers are generally asymptomatic, signs of chorioretinal degeneration of choroideremia can be reliably observed with specific instrumental diagnostic tests (autofluorescence of the ocular fundus, OCT and Angio-OCT) and also with a careful examination of the ocular fundus. The definitive diagnosis of choroideremia occurs through electroretinogram (ERG) and visual field (CV) examination but above all with molecular genetic tests.

Unfortunately, to date there are no scientifically approved clinical practice guidelines for the treatment of choroideremia. All patients, however, are prescribed: the use of sunglasses with UV protection (ultraviolet rays) of CE certified quality; an adequate diet of fresh fruit and green leafy vegetables; the intake of antioxidant vitamin supplements, but above all the regular intake of very long chain omega-3 fatty acids.

Exposure to sunlight without protection with glasses and the habit of smoking, which represents an important risk factor for macular degeneration, must be absolutely avoided. Scientific research on the treatment of choroideremia is ongoing. Gene replacement therapy through subretinal administration (with surgery) has been tested in various countries demonstrating a certain increase in visual acuity in the treated eye compared to the untreated eye; however, some individuals have experienced significant complications; Furthermore, systemic gene suppression therapies are also being studied which will hopefully give good results.

So dear Alessio, the therapies prescribed by your ophthalmologist are correct and should not be interrupted and have the aim of slowing down the disease; If you smoke, I strongly urge you to stop this habit and I also advise you to reduce your dietary intake of animal proteins. I hope I have been exhaustive and I would add that your pathology, although progressive, is slow and will allow you to live a good quality of life for many years, waiting for further and more effective therapeutic innovations to arrive shortly from scientific research. .

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