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Blue (blue) sclera can be a symptom of a number of systemic diseases. "Blue sclera" is most often a sign of Lobstein-van der Heve's syndrome, which belongs to the group of constitutional defects of connective tissue, due to numerous genetic injuries.


Introduction: This information shows the various causes of Blue sclerae, and how common these diseases or conditions are in the general population.This is not a direct indication as to how commonly these diseases are the actual cause of Blue sclerae, but gives a relative idea as to how frequent these diseases are seen overall.. 1 disease that is "rare".


Blue sclera is a condition of the eyes in which the whites of the eyes are a bluish color. This eye condition is a risk factor for many other eye diseases like Marfan's syndrome and pseudoxanthoma elasticum.


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.


Congenital defects in collagen synthesis cause thinning of the sclera, which causes a bluish hue on examination. These defects include Ehlers-Danlos syndrome, osteogenesis imperfecta and, occasionally, Marfan’s syndrome. Toxicity from systemic medications, topical medications and argyrosis also were considered:


Blue Sclera Symptom Checker: Possible causes include Iron Deficiency Anemia & Rheumatoid Arthritis & Osteogenesis Imperfecta. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.


OI caused by mutations in the CREB3L1 gene. This mutation causes prenatal onset of recurrent fractures of the ribs and long bones, demineralization, decreased ossification of the skull, and blue sclerae. Family members who are heterozygous for OI XVI may have recurrent fractures, osteopenia and blue sclerae. Type XVII


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 ...


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.


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.