Osteogenesis imperfecta (OI) is a connective tissue disorder of the skeleton, ears, eyes, teeth, skin and joints, caused by an abnormality of type I collagen.
Posterior polymorphous corneal dystrophy (PPCD), is a rare autosomal dominant disease that is a type of inherited corneal dystrophy.
This case, to our knowledge, report the first case of posterior polymorphous corneal dystrophy in osteogenesis imperfecta. Furthermore PPCD and Descemet membrane detachment in keratoglobus is a rare condition who merits to be reported
The clinical history of a single patient with osteogenesis imperfecta, posterior polymorphous corneal dystrophy and corneal decompensation is reported. Visual acuity, anterior segment optical coherence tomography and specular microscopy is reported.
On the right eye a large hydrops was revealed at the slit lamp exam and a tearing at the optical coherence therapy confirmed the diagnosis of Descemet membrane detachment.
On the left eye the diagnostic of PPCD was suggested by endothelial vesicle-like lesions with diffuse linear opacities and confirmed by specula microscopy.
Optical coherence tomography pachymetry showed a bilateral keratoglobus.
Medical treatments were performed with good results.
One case of keratoglobus with PPCD has been previously described, however this is the first time that we have found PPCD associated with osteogenesis imperfecta.
A total of 17 genetic causes of OI have been described with COL1A1/2 mutations still accounting for a large majority of OI patients, approximating 90% in populations of European origin. There are 3 identified PPMD genes: VSX1, COL8A2, and TCF8.
None of the genes quoted previously are known to be at the origin of osteogenesis imperfecta.
However a common genetic mutation has yet to be looked for and further genetic analyses can be performed.
We report here the first case of posterior polymorphous corneal dystrophy associated with keratoglobus and osteogenesis imperfecta.
Further investigation as genetic research should be realized on our patient to search a common etiology.
