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Why Blue Eyes are Not Always Beautiful: Osteogenesis Imperfecta

by | Oct 1, 2025 | Manuscripts | 0 comments

Palak Kodan( 1 ), B. Optom. Student; Kritika Gautam( 2 ), Lecturer

1,2GD Goenka University, Gurugram, India

 

We frequently picture beauty, charm, and individuality when we think about blue eyes. They are honoured as unique jewels of human look, praised in melodies, and admired in poetry. A soft appeal for assistance, however, can occasionally be heard beneath the vibrant sparkle of blue eyes, indicating something much more serious. One such disorder, Osteogenesis Imperfecta, commonly referred to as “brittle bone disease,” is one in which blue eyes could indicate a secret battle.(1)

Osteogenesis Imperfecta (OI) is a diverse condition marked by fragile bones, recurrent fractures, skeletal deformities, and reduced height. This condition is mainly linked to mutations in the genes that are responsible for the production of type 1 collagen. (2) In addition to the skeletal symptoms, it can affect multiple systems, such as dental and craniofacial abnormalities, muscle weakness, hearing loss, and respiratory and cardiovascular complications. (3,4)

Sillence Classification System for Osteogenesis Imperfecta

Traditionally, individuals diagnosed with OI are categorised into four types I–IV, based on clinical, radiological, and hereditary characteristics.

Type Key Features Disability Severity Ocular Signs
I Childhood fractures, dentinogenesis imperfecta Mild Blue sclera, Myopia, Glaucoma risk
II Perinatal lethal, severe osteopenia Very severe Dark blue sclera
III Fractures at birth, progressive deformity Severe Blue/grey sclera, high myopia risk
IV Variable phenotypic expression Moderate White sclera, Myopia, Glaucoma risk

Table 1: Types of Osteogenesis Imperfecta

Image Courtesy: Created by Author

Clinical Manifestations

Bone fragility and osteopenia associated with OI result in recurrent fractures, fractures occurring in atypical locations, and low-trauma fractures, which may include in-utero fractures in the more severe forms of OI. (2)

Ocular Issues

OI patients exhibited notable alterations in corneal profiles in comparison to healthy individuals. A substantial percentage of patients presented with tomographically questionable corneas when evaluated using keratoconus diagnostic criteria. (3) OI concerns eye-related complications, where type I collagen plays a crucial role as a structural element in the eye. Ocular disorders, including blue sclera, refractive errors, corneal thinning, Keratoconus, Glaucoma, Cataracts, and Retinal Detachment, may arise because of inherent connective tissue irregularities. In particular, the blue discolouration of the sclera stands out as the primary clinical indicator among ocular manifestations of OI. (6)

Figure 1: Mechanism Leading to Blue Sclera

In individuals exhibiting “blue sclera,” the hue of the sclera resembles Wedgewood blue, presenting such a unique appearance that they seem to be painted. When “blue sclerotics” is observed, it maintains its distinctly blue colouration for the entirety of the life of an individual. (8)

Treatment

The underlying uveal pigment can appear through the thinning of the sclera in OI, which frequently results in a strikingly blue sclera. Despite its aesthetic appeal, it really denotes brittle connective tissue, which increases the risk of diseases such as Glaucoma, Myopia, and Retinal thinning or Detachment. (6) The management emphasises wearing protective eyewear to avoid trauma-related injuries and doing routine, thorough eye exams to identify these problems early. Even though bone-strengthening medications like bisphosphonates, physical therapy, and orthopaedic support are all part of the general treatment for OI, eye care is still an essential component of the overall strategy since it helps maintain vision and safeguard the already fragile eyes of those who have the condition. (9,10)

Conclusion

OI is a complicated connective tissue disorder that can profoundly impact several body systems, including the eyes. It is much more than just weak bones. Often regarded as a sign of beauty, the vivid blue sclera may really be an indication of underlying tissue instability. For people with this disorder, early detection of ocular symptoms and multi-disciplinary care are essential for maintaining their eyesight and general quality of life.

References

  1. Subramanian, S., & Viswanathan, V. K. (2019). Osteogenesis imperfecta.
  2. Deguchi, M., Tsuji, S., Katsura, D., Kasahara, K., Kimura, F., & Murakami, T. (2021). Current overview of osteogenesis imperfecta. Medicina, 57(5), 464.
  3. Marom, R., Rabenhorst, B. M., & Morello, R. (2020). Management of endocrine disease: Osteogenesis imperfecta: An update on clinical features and therapies. European journal of endocrinology, 183(4), R95-R106..
  4. Morello, R. (2018). Osteogenesis imperfecta and therapeutics. Matrix Biology, 71, 294-312.
  5. Lindahl, K., Åström, E., Rubin, C. J., Grigelioniene, G., Malmgren, B., Ljunggren, Ö., & Kindmark, A. (2015). Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta. European Journal of Human Genetics, 23(8), 1042-1050.
  6. Di Martino, V., Mallone, F., Lambiase, A., Celli, M., Mannocci, A., Celli, L., … & Moramarco, A. (2024). ‘BLUES’procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta. Orphanet Journal of Rare Diseases, 19(1), 176.
  7. Correia Barão, R., Santos, M., Marques, R. E., Quintas, A. M., & Guerra, P. (2023). Keratoconus tomographic indices in osteogenesis imperfecta. Graefe’s Archive for Clinical and Experimental Ophthalmology, 261(9), 2585-2592.
  8. Van Dijk, F. S., & Sillence, D. O. (2014). Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. American journal of medical genetics Part A, 164(6), 1470-1481.
  9. Song, I. W., Nagamani, S. C., Nguyen, D., Grafe, I., Sutton, V. R., Gannon, F. H., … & Lee, B. (2022). Targeting TGF-β for treatment of osteogenesis imperfecta. The Journal of clinical investigation, 132(7).
  10. Götherström, C., & Walther-Jallow, L. (2020). Stem cell therapy as a treatment for osteogenesis imperfecta. Current osteoporosis reports, 18(4), 337-343.

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