Blue Sclera and Tendon Rupture

Shashi Gavini; Steven Turpin; Leonid Skorin

doi:10.7556/jaoa.2017.015

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Blue Sclera and Tendon Rupture

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From the journal Journal of Osteopathic Medicine Volume 117 Issue 1

Keywords: blue sclera; corneal thinning; osteogenesis imperfecta

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

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

References

1. Lindahl K , ÅströmE, RubinCJ, 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.2015.8110.1038/ejhg.2015.81Search in Google Scholar PubMed PubMed Central

2. Marini JC , ReichA, SmithSM. Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation. Curr Opin Pediatr . 2014;26(4):500-507.10.1097/MOP.0000000000000117Search in Google Scholar PubMed PubMed Central

3. Dimasi DP , ChenJY, HewittAW, 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/s00439-009-0729-310.1007/s00439-009-0729-3Search in Google Scholar PubMed

Received: 2016-08-29

Accepted: 2016-09-06

Published Online: 2017-01-01

Published in Print: 2017-01-01

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Articles in the same Issue

https://doi.org/10.7556/jaoa.2017.015

Keywords for this article

blue sclera; corneal thinning; osteogenesis imperfecta

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