Posters

Association of keratoconus with osteogenesis imperfecta: about a case

Poster Details

First Author: B.Mrini MOROCCO

Co Author(s): F. Boudguigue   K. Madbouhi   M. Ikhloufi   N. Boutimzine   O. Cherkaoui        

Abstract Details

Purpose:

Osteogenesis imperfecta is a rare connective tissue disorder that is caused by a mutation in the two genes that encode the alpha chains of type 1 collagen. Its association with a keratocone is exceptional. We present here one case of this rare association.

Setting:

Ophthalmology A, Rabat Speciality Hospital, Morocco

Methods:

We report the case of a 9-year-old monophthalmic patient with an osteogenesis imperfecta treated with bisphosphonates. Ophthalmologic examination revealed a visual acuity at light perception (LP+), a microphthalmia, a corneal protrusion with an opacity, a congenital cataract, and at the fundus falciform retinal folds. The corneal topography confirmed the diagnosis of keratoconus. The congenital cataract has been operated and post-operative visual acuity was 1/10. The keratoconus has been first treated with a rigid corneal lens and then with a scleral lense and both has been poorly tolerated.Considering the bad prognosis because of retinal damage, corneal transplantation has not been performed.

Results:

Osteogenesis imperfecta is a disorder of bone fragility chiefly caused by mutations in the COL1A1 and COL1A2 genes that encode type I procollagen. Its association with a keratocone is exceptional. There is no correlation between the degree of corneal protrusion and the extent of bone disease.

Conclusions:

Although a rare outcome, the association of keratoconus with osteogenesis imperfecta should be considered and an ophthalmological examination must be systematically performed in patients with osteogenesis imperfecta.

Financial Disclosure:

None