Myopia magna [107 genes]

We speak of myopia magna when the myopia is greater than 6 diopters or when the anteroposterior axis of the eye is greater than 26mm.

Myopia of these characteristics causes a greater risk of ocular complications, such as retinal detachment, glaucoma, cataracts, progressive atrophy of the retina and choroid, degeneration of the vitreous, alterations of the optic nerve, retinal hemorrhages, and even macular holes.

The high myopia service brings together the genes of all syndromic and non-syndromic diseases that associate high myopia at least occasionally in their phenotype.

Recommended service when a syndromic patient not diagnosed through different genetic and non-genetic complementary examinations suffers from high myopia. This could be an alternative approach to those already carried out through which to focus on genes that may not have been analyzed in depth previously. Likewise, when myopia magna is detected in a non-syndromic patient, either due to young age or minor phenotypic data, a syndromic form cannot be discarded. Given the diagnosis of non-syndromic myopia magna, it would be more appropriate to request the non-syndromic myopia magna panel.

Suspicion of a genetic origin of myopia magna, either due to clinical signs that accompany myopia in the patient, due to its severity, or family history.