Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. It results in bones that break easily. The severity may be mild to severe. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems with the teeth.
Thin sclera. Osteogenesis imperfecta amongst its other problems, produces a thinning of the white outer coat of the eyeball, the sclera. Because of this the dark inner lining, the uvea, adds its coloration to light striking the thinned sclera and the result is a blue color.
Osteogenesis imperfecta (OI) is present at birth. It is often caused by a defect in the gene that produces type 1 collagen, an important building block of bone. There are many defects that can affect this gene. The severity of OI depends on the specific gene defect. If you have 1 copy of the gene ...
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones.Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the ...
In people with osteogenesis imperfect, there’s a defect or flaw in one of the genes that produces type-1 collagen. This protein (type I collagen) is used by our body to build stronger bones. Type 1 collagen is an important component of connective ...
What Causes Blue Sclera? Blue sclera, or a blue tint to the white's of a patient's eyes, can be caused by the disease osteogenesis imperfecta, according to Medline Plus. Osteogenesis imperfect is a congenital disease that is most commonly caused by a defect in the gene that codes for type 1 collagen.
The characteristic blue sclera is caused by thinness and transparency of the collagen fibers of the sclera that allow visualization of the underlying uvea. The sclera may be thinned in congenital diseases such as osteogenesis imperfecta or in acquired diseases such as iron deficiency anemia.
on Osteogenesis Imperfecta. Definition Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. A classification system of different types of OI is commonly used to help describe how severely a person with OI is affected.
Blue sclerae, especially at infancy, is the most visible ocular sign in osteogenesis imperfecta but it is not always present. It is also often present in normal infants. In some patients, it is present early but disappears later in life. Some patients have significantly lower ocular rigidity, corneal diameters, and decreased globe length.
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation.People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth.