Ocular Findings in Osteogenesis Imperfecta Congenita

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes

“…Corneal collagen Wbril diameter was lower in the oim/oim mice compared to the wt/wt animals. This reXects the Wndings of other studies, which have found corneal stromal collagen Wbrils to be 25% narrower in human OI patients compared to controls (Chan et al 1982;Mietz et al 1997). In contrast, it was interesting to note that our data on corneal collagen Wbril density contradicted the results of (Weis et al (2000), who found that Wbril density was 38% lower in the cardiac tissue of oim/oim mice compared to wt/wt animals.…”

Ophthalmologic Manifestations of Cutaneous Conditions

“…It typically presents with cutaneous atrophy and easy bruising, bone fragility and deafness [12]. The most common ocular manifestation in most forms of osteogenesis imperfecta is blue sclera [13], which has been attributed to enhancement of the uveal pigment secondary to increased scleral translucency [12]. Other ocular features include decreased central corneal thickness and glaucoma [13].…”

Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis

“…In terms of physical characteristics, the blue color is a product of reflectance rather than absorbance, again suggesting that it is dependent on altered matrix composition. Thin scleral coat as a cause of blue sclerae has not been a consistent finding, although Chan et al have reported that in lethal OI, both corneal fiber diameter and the diameter of scleral collagen fibers were reduced by 25 and 50%, respectively [159]. Arcus senilis (embryotoxon) is the second most frequent abnormality in OI following blue sclerae, being observed in 28% of affected individuals [13,160,161].…”