Corneal involvment in mucopolysaccharidosis I: importance of an early diagnosis and an adequate management

Session Details

Session Title: Cornea & Miscellaneous
Session Date/Time: Saturday 22/02/2020 | 08:30-11:10
Paper Time: 10:20
Venue: Auditorium des Ministres.

First Author: I.Jeddou MOROCCO
Co Author(s): N. Laaribi  N. Khanaouchi  Y. Mouzari  F. Elasri  K. Reda  A. Oubaaz  

Abstract Details

Purpose:

Mucopolysaccharidosis I (MPS I) is characterized by an accumulation of glycosaminoglycan in several tissues. When it comes to the cornea, the deposit of glycosaminoglycan leads to a progressive corneal clouding that is more important when the therapy is initiated at a late stage. The opacification of the cornea is responsible for refractive errors, amblyopia and ultimately an important visual loss. The interest of this work is to emphasize the importance of early diagnosis and management in MPS I to preserve the visual function and to raise awareness of MPS among ophthalmologists.

Setting:

The ophthalmology department and the paediatric department of the military hospital Mohamed V of Rabat. Morocco

Methods:

We report a series of 15 children with MPS I confirmed by an α-L-iduronidase deficiency and a genetic diagnosis. We noted the age of the diagnosis and the beginning of the treatment as well as the notion of consanguinity. We made a complete examination of the eyes including the measurement of refraction after cycloplegia, the visual acuity before and after optical correction, a slit-lamp examination to evaluate the transparency of the cornea, photography of the anterior segment to assess the evolution of the corneal clouding, a corneal optical coherence tomography and finally the evolution under treatment.

Results:

The average age of the patients at the time of the diagnosis was 28 months, but the beginning of the systemic enzyme replacement therapy was at 6 years old on average (lack of availability). All the children were from a consanguineous marriage. Refractive errors were common especially hypermetropia and myopic astigmatism. Corrected visual acuity improved from counting fingers to 24/40 on average as most of the eyes were having a diffuse corneal clouding of increasing intensity according to therapeutic delay. The enzyme replacement therapy had a stabilizing effect on the corneal opacification as well as visual acuity.

Conclusions:

Ophthalmologists play a crucial role in maintaining the visual function of children with MPS-I since they may be the first to suspect a metabolic disease. Their role continues after the confirmation of the diagnosis by the prescription of the best optical correction, the treatment of amblyopia or even the achievement of a keratoplasty when the corneal clouding is so important that it hampers the fundus examination and the visual development of the child. The ophthalmologists should also complete a regular follow-up and look for other ocular features of the disease as the glycosaminoglycan can accumulate in all the ocular tissues.

Financial Disclosure: