Blue Sclera: A Manifestation of Osteogenesis Imperfecta
Osteogenesis imperfecta, as the name suggests, refers to the impaired bone formation ascribed to defective genes encoding collagen. Individuals with osteogenesis imperfecta are susceptible to multiple fractures, even with minimum or no force. There are 19 recognized forms of osteogenesis imperfecta. Type I is the mildest form of the condition and it is compatible with life. Type II is the most severe form causing death in utero. Bluish or grayish scleral discoloration is a common feature of almost all types of osteogenesis imperfecta. It is attributed to defective collagen due to which the choroidal vessels present underneath are visible. Reference: https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta/#:~:text=Osteogenesis%20imperfecta%20(OI)%20is%20a,or%20with%20no%20apparent%20cause. Image via: https://en.wikipedia.org/wiki/Osteogenesis_imperfecta