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Clinical Images  |   January 2017
Blue Sclera and Tendon Rupture
Author Notes
  • From the William Carey University College of Osteopathic Medicine in Hattiesburg, Mississippi (Student Doctor Gavini); the Pacific University College of Optometry in Forest Grove, Oregon (Mr Turpin); and the Mayo Clinic Health System in Albert Lea, Minnesota (Dr Skorin). 
  •  *Address correspondence to Leonid Skorin Jr, DO, OD, MS, Mayo Clinic Health System, 404 W Fountain St, Albert Lea, MN 56007-2437. E-mail: skorin.leonid@mayo.edu
     
Article Information
Emergency Medicine / Imaging / Ophthalmology and Otolaryngology / Clinical Images
Clinical Images   |   January 2017
Blue Sclera and Tendon Rupture
The Journal of the American Osteopathic Association, January 2017, Vol. 117, 64. doi:10.7556/jaoa.2017.015
The Journal of the American Osteopathic Association, January 2017, Vol. 117, 64. doi:10.7556/jaoa.2017.015

Keywords: blue sclera, corneal thinning, osteogenesis imperfecta

A 53-year-old man presented for an ocular health evaluation. Early in his childhood, the patient received a diagnosis of osteogenesis imperfecta (OI) type I. His medical history included 27 bone fractures before age 12 years, multiple tendon ruptures, osteoporosis, a mechanical aortic valve replacement, and recurrent corneal erosions. The examination revealed a blue-gray appearance of the sclera in both eyes (image A). Results of a corneal pachymetry measurement revealed decreased corneal thickness. A recent magnetic resonance image revealed a complete rupture of his quadriceps tendon distally (image B, arrow). The diagnosis was corneal thinning secondary to OI type I. 
Osteogenesis imperfecta is most commonly an autosomal-dominant connective tissue disorder that occurs in 5.4 to 7.4 of 100,000 births.1 Mutations in COL1A1 or COL1A2 genes, which code for type I collagen, cause OI types I to IV. Mutations in the IFTM5 transmembrane protein, the gene that causes defective bone mineralization, cause OI type V.2 Ocular signs of OI type I usually include blue sclera due to an alteration in the collagen matrix and possible corneal thinning.3 Scleral discoloration is benign, but decreased central corneal thickness can increase the risk of delayed primary open-angle glaucoma and vision loss.3 
References
Lindahl K, Åström E, Rubin CJ, et al. Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta [published correction appears inEur J Hum Genet. 2015;23(8):1112. doi:10.1038/ejhg.2015.129]. Eur J Hum Genet. 2015;23(8):1042-1050. doi:10.1038/ejhg.2015.81 [CrossRef] [PubMed]
Marini JC, Reich A, Smith SM. Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation. Curr Opin Pediatr. 2014;26(4):500-507. [CrossRef] [PubMed]
Dimasi DP, Chen JY, Hewitt AW, et al. Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes. Hum Genet. 2010;127(1):33-44. doi:10.1007/s00439-009-0729-3 [CrossRef] [PubMed]