Abstract
Purpose:
Osteogenesis imperfecta (OI) is a systemic disorder with defects in Type 1 collagen and multiple OI types with variable genotypes and phenotypes that may include bone fractures, dental abnormalities, and other problems. While blue sclera, thin corneas, and various eye diseases have been described in OI in isolation, this study reports data on the prevalence of different eye conditions in the OI population for the first time from a patient based survey.
Methods:
An internet based survey to record OI patient experiences of eye conditions was performed by the Kennedy Krieger Institute OI Registry (www.osteogenesisimperfecta.org/oir/; Jay Shapiro, MD, survey author). The OI Registry general survey began in March 2006 and this study describes patient reported eye conditions as of April 2013.
Results:
409 of 2027 (20% response rate) OI patients in the OI Registry responded to the eye survey including: 290 (71%) female; 119 (29%) male; 203 (50%) OI type I; 35 (9%) OI type III; 50 (12%) OI type IV; 6 (2%) OI type V; 2 (1%) OI type VI; and 111 (27%) unknown OI type. Mean age [± stdev] was 35 [± 20] years. 133 of 409 (33%) eye survey responses described eye or vision-related problems including (from highest to lowest frequency): 1) loss of vision 41 (10%) 2) refractive errors (myopia 17, hyperopia 4, astigmatism 15, contact lens use 1, presbyopia 1, Lasik correction 1) 39 (10%) 3) glaucoma 10 (2%) 4) cataract 9 (2%) 5) keratoconus 7 (2%) 6) macular degeneration 3 (1%), scleromalacia 3 (1%), floaters 3 (1%) 7) retinal or vitreous hemorrhage 2 (0.5%), amblyopia 2 (0.5%), light sensitivity 2 (0.5%) 8) retinal tears or detachment 1 (0.2%), ocular occlusion 1 (0.2%), dry eyes 1 (0.2%), oval shaped eye 1 (0.2%), high pressure 1 (0.2%), poor eyelid closure 1 (0.2%), chorioretinitis 1 (0.2%), retinal thinning 1 (0.2%), eyelid ptosis 1 (0.2%), eye paralysis 1 (0.2%), oculomotor nerve palsy 1 (0.2%), allergic conjunctivitis 1 (0.2%)
Conclusions:
In this first survey on prevalence, OI patients report a wide range of ocular pathologies and may occasionally develop serious, blinding eye conditions. Annual and as needed (for any visual change) ophthalmologist evaluations are advised to rule out and treat serious eye disease. Glasses with strong frames are advised for better vision and protection from accidental trauma. More studies on the prevalence of eye disease in the OI population are needed to improve OI patient eye care.
Keywords: 708 sclera •
421 anterior segment •
539 genetics