My son's name is Marco, and unfortunately he suffers from the deficit of limbal stem cells. Limbal stem cell (or LSCD) deficiency can be primary as in the case of aniridia, congenital erythrocheratoderma, keratitis associated with multiple endocrine syndromes, etc. or secondary (more common) caused by thermal or chemical burns, Stevens-Johnson syndrome, scarring eye pemphigoid (OCP), multiple surgeries. The LSCD can be total, or partial, if only one sector is involved. The symptoms, related to chronic inflammation, are represented by photophobia, tearing, redness; however, the symptoms may differ significantly depending on the cause; in advanced cases, impairment of the ocular surface leads to the development of severe clinical conditions similar to those of the "Dry-Eye" (dry eye). Limbal stem cells preside over the differentiation and proliferation of corneal epithelial cells; they are real germinative centers from which the cells that will cover and protect the cornea originate. Any condition that causes the destruction of these cells will result in the lack of corneal epithelialization with serious consequences ranging from corneal neo-vascularization to perforation. Most of these anomalies are associated with pathological alterations of the conjunctiva (shortening of the fornices, simblefaron, Figure 3) and of the palbebras (entropion, ectropion, etc.) The diagnosis is confirmed through impression cytology that identifies on the corneal surface the "goblet cells" containing conjunctival epithelium (which instead should not be there). In the forms of partial deficit the simple removal of the corneal cloth can improve the clinical picture, even if the cases in which this procedure is sufficient are very limited. In total forms the therapy is the limbus transplantation associated or not with subsequent keratoplasty surgery. The transplant can be autologous, if the tissue comes from the contralateral healthy eye, or heterologous if it comes from a relative or corpse; the fundamental difference is in the risk of rejection (virtually absent in the first case, high in the second).
Patients with this condition do not have a sufficient number of limbal stem cells, which normally intervene in the process of regeneration of the cornea, replacing the external corneal cells that are damaged and age.
The treatment, called Holoclar, is a tissue engineering product for advanced therapies consisting of an ex vivo autologous reconstructed human corneal epithelium containing stem cells, indicated for the reconstruction of the corneal surface in patients with lack of limbal stem cells due to ocular burns . The active ingredient of Holoclar is represented by the epithelial stem cells contained in it which, once they take root, permanently regenerate the corneal epithelium restoring full functionality and thus allowing the recovery of visual capacity.
We found a hospital in England that can do the operation but we have no money to afford the trip.