Improvement of corneal opacity in Morquio's disease with elosulfase-α: a case report

Session Details

Session Title: Presented Poster Session: Spotlight on Cornea

Venue: Poster Village: Pod 2

First Author: : I.Canas Zamarra SPAIN

Co Author(s): :    M. Gimeno Carrero   B. Sarmiento Torres   M. De Uña Iglesias                 

Abstract Details

Purpose:

To describe the remission of corneal opacity secondary to type IV A mucopolysaccharidosis (Morquio's disease) in a patient treated with Elosulfase-α (Vimizin®). This disease involves a deficiency of the enzyme N-acetylgalactosamine-6-sulfate-sulfatase, causing the progressive accumulation of glycosaminoglycans (chondroitin-6-sulfate and keratan-sulfate). Its consequences include: bone dysplasia, heart disease, lung disease, hearing loss, corneal opacity with frequent evolution to keratoplasty, etc.

Setting:

Clinical case diagnosed and treated at the University Hospital 12 de Octubre, from Madrid, Spain.

Methods:

20-year-old male with genetic diagnosis of Morquio's disease (mutation c.1156C> T (p.R386C) homozygote in exon 11 of the GALNS gene) showing clouding corneas with corneal deposits in all layers (mostly in deep stroma) from childhood, as well as incipient cataract and hyperopia that requires optical correction, with both normal intraocular pressure and  optic nerve. We describe the use of enzyme replacement treatment a year and a half ago.

Results:

Recombinant human therapy with intravenous Vimizin® has improved the patient's corneal situation. Other important findings are: decreased corneal deposits and corneal opalescence, and also visual acuity improvement (from 6/10 to 8/10) in both eyes, without any type of side effects.

Conclusions:

The current literature reveals that Elosulfase-α can stop and even reverse the progressive clinical and functional deterioration of patients with Morquio's disease, significantly improving their quality of life. In addition, the improvement of the corneal situation of patients can delay the posible requirement for a keratoplasty. This is an important fact due to the surgery risks for the general condition of these patients.

Financial Disclosure:

None