Corneal ectasia [18 genes]

The Corneal ectasias panel includes the genes corresponding to pathologies that associate keratoconus or keratoglobus, whether in isolation or as part of a multisystem syndrome.

Keratoconus is a progressive corneal disorder with thinning of the central or paracentral corneal stroma, accompanied by apical protrusion and irregular astigmatism.

Keratoglobus is a rare condition that can be present at birth (the differential diagnosis is with congenital glaucoma and megalocornea) or develop during adult life. Unlike keratoconus, the cornea develops globular rather than conical ectasia, as corneal thinning is generalized. The cornea affected by keratoglobus is more prone to rupture in the event of relatively mild trauma.

Unknown

If there is a suspicion that keratoconus or keratoglobus have a genetic etiology because of the patients´ additional systemic symptoms, it is recommended to request the Corneal Ectasias service, as it includes the analysis of all the genetic entities related to this manifestation to date. This genetic study may be the way to diagnose a disease with other serious manifestations apart from corneal ectasia.

The importance of reaching a diagnosis lies in achieving a more personalized approach to keratoconus or keratoglobus and in allowing follow-up according to the diagnosis for early detection of possible associated manifestations.

Indicated when there is clinical suspicion that the disease may have a genetic origin based on the segregation of the disease in the family or due to the presence of clinical signs additional to the ocular manifestation. If the patient presents extraocular manifestations and the diagnosis has not been reached, this panel could be a useful tool to close the case. If the result is negative, it would be appropriate to approach the clinical case using a more global approach, such as a whole exome approach.