What ocular condition is characterized by brittle bones and potential sight issues due to scleral fragility?

Prepare for the NBEO Systemic Disease Exam. Use flashcards and multiple-choice questions to test your knowledge. Each question includes hints and explanations. Enhance your understanding and readiness for the exam.

The ocular condition characterized by brittle bones and potential sight issues due to scleral fragility is Osteogenesis Imperfecta. This condition, also known as "brittle bone disease," results from a genetic defect affecting collagen production, leading to fragile bones that are prone to fractures. One of the notable ocular manifestations of Osteogenesis Imperfecta is the blue sclera observed in some patients, which is a direct result of the underlying connective tissue disorder. The sclera becomes thin and fragile, which can lead to various sight issues such as an increased risk of ocular trauma and potential for additional complications like scleral perforation or ectasia.

While other conditions listed may have ocular manifestations, they do not specifically correspond with both brittle bones and scleral fragility associated with vision problems. For instance, Fabry's disease primarily affects the kidneys and the cardiovascular system, and Tay-Sachs disease is a neurodegenerative disorder with no direct association with bone fragility or scleral changes. Diseases of the optic nerve involve specific ocular nerve issues that do not relate directly to bone health or ocular fragility as seen in Osteogenesis Imperfecta.

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