Why does osteogenesis imperfecta cause blue sclera?
Blue sclera is the most commonly known ocular sign for osteogenesis imperfecta and it is caused by thin scleral collagen allowing the underlying darker choroid vasculature to be seen. Patients with OI have shown a reduction in thickness of the corneal and scleral collagen fibers which can result in low ocular rigidity.
What causes a blue sclera?
Blue sclera: a bluish coloration of the whites of the eyes. The blue color is caused by thinness and transparency of the collagen fibers of the sclera, allowing the veins in the underlying tissue to show through. Blue sclerae are characteristic of a number of conditions, particularly connective tissue disorders.
Does brittle bone disease make eyes blue?
They may have abnormally shaped bones (such as a curved spine, a ribcage that points outward, a triangular face, or legs that bow out), breathing problems (which can be life-threatening), hearing loss as adults, brittle teeth, and other problems. The whites of their eyes can have a blueish tint.
What color represents osteogenesis imperfecta?
Wishbone Day draws awareness to the contributions of people with OI as well as the challenges of living with OI. It’s recognized by the color yellow – which was chosen because it symbolizes optimism and a positive future.
Which types of OI have blue sclera?
OI type II is the most severe type of osteogenesis imperfecta. Affected infants often experience life-threatening complications at birth or shortly after. Infants with OI type II have low birth weight, abnormally short arms and legs and blue sclera.
What is van der Hoeve syndrome?
Van der Hoeve’s syndrome is the all-round variant of Lobstein’s disease (late osteogenesis imperfecta) and is characterized by the concurrent presence of osteoporosis, blue sclerae, and deafness. The literature has reported sporadic cases of a combination of algodystrophic syndrome and Lobstein’s disease.
What type of EDS has blue sclera?
Brittle cornea syndrome has been confused with EDS, particularly EDS type VI (OMIM #225400), which is also associated with blue sclera. Although EDS type VI was known as the ocular subtype of EDS, in fact ocular fragility in EDS type VI is less frequent than was originally thought.
How do you fix blue sclera?
Still now, there is no cure of this disease. Genetic counseling is recommended for couples considering pregnancy if there is a personal or family history of this condition. Blue sclera may be associated with multisystem disorders so good history taking is most important.
What is osteogenesis imperfecta caused by?
Causes and Risk Factors Osteogenesis imperfecta is caused by a faulty gene that affects the body’s ability to produce collagen. The quantity of collagen produced is either lower or of a poorer quality. If one parent has osteogenesis imperfecta, a child has a 50% chance of having the condition.
What are the 2 types of osteogenesis?
Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe.
Is blue sclera normal?
Severe forms are most often diagnosed early in life, but mild cases may not be noted until later in life. The blue-gray color of the sclera is due to the underlying choroidal veins which show through. This is due to the sclera being thinner than normal because the defective Type I collagen is not forming correctly.
What are the causes of osteogenesis imperfecta?
People with osteogenesis imperfecta are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type I collagen. This deficiency arises from an amino acid substitution of glycine to bulkier amino acids in the collagen triple helix structure.
What are the signs and symptoms of osteogenesis imperfecta?
Blue sclera is the most commonly known ocular sign for osteogenesis imperfecta and it is caused by thin scleral collagen allowing the underlying darker choroid vasculature to be seen. Patients with OI have shown a reduction in thickness of the corneal and scleral collagen fibers which can result in low ocular rigidity.
Is the classification system used for osteogenesis imperfecta still relevant?
To this date, there continues to be significant variance on the classification system used for Osteogenesis Imperfecta.
What are the ocular characteristics of connective tissue disorders associated with blue sclera?
Other ocular characteristics of connective tissue disorders associated with blue sclera include thin cornea, epicanthal fold, myopia, keratoconus, and angioid streaks.