OPS disease, or Osteoporosis-Pseudoglioma Syndrome, is a rare genetic disorder characterized by severe osteoporosis that begins in childhood and can lead to blindness.
Here's a more detailed breakdown:
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Osteoporosis: This refers to a condition where bones become weak and brittle, making them prone to fractures. In OPS, this develops at a very young age, often in childhood.
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Pseudoglioma: This term describes a condition that mimics retinoblastoma (a type of eye cancer in children). In OPS, it can lead to congenital or juvenile-onset blindness. The "pseudo" prefix indicates it's not actually retinoblastoma, but rather a different condition affecting the eyes that causes vision loss.
Key Characteristics of OPS:
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Autosomal Recessive Inheritance: This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
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Early-Onset Osteoporosis: Bone fragility is a prominent feature, often leading to fractures.
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Vision Impairment: Blindness or significant vision loss typically occurs in childhood, sometimes present at birth.
In summary, Osteoporosis-Pseudoglioma Syndrome (OPS) is a rare inherited disorder causing severe osteoporosis in children and blindness or significant vision impairment. The exact underlying cause and mechanism of the disease are currently not fully understood.
