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Blue sclera is the condition that occurs when the whites of the eyes become bluish, something that can be seen in some babies up to 6 months of age, and can also be seen in the elderly over 80 years old, for example.
However, this condition may be associated with the emergence of other diseases such as iron deficiency anemia, osteogenesis imperfecta, some syndromes and even the use of certain medications.
The diagnosis of diseases that lead to the appearance of blue sclera must be made by a general practitioner, pediatrician or orthopedist and is made through the clinical and family history of the person, blood tests and imaging. The indicated treatment depends on the type and severity of the disease, which can be changes in diet, use of medications or physical therapy.
Blue sclera can appear due to reduced iron in the blood or defects in collagen production, leading to the emergence of diseases such as:
1. Iron deficiency anemia
Iron deficiency anemia is defined by hemoglobin levels in the blood, seen on examination as Hb, below normal as less than 12 g/dL in women or 13.5 g/dL in men. Symptoms of this type of anemia include weakness, headache, changes in menstruation, excessive tiredness and can even lead to the appearance of blue sclera.
When symptoms appear, it is recommended to seek care from a general practitioner or hematologist, who will request tests such as a complete blood count and ferritin dosage, to check if the person has anemia and the degree of the disease. Learn more how to identify iron deficiency anemia.
What to do: after the doctor has made the diagnosis, treatment will be indicated, which usually consists of the use of ferrous sulfate and increased intake of foods rich in iron which can be red meat, liver, poultry, fish and dark green vegetables, among others.Foods rich in vitamin C, such as oranges, acerola and lemons, can also be recommended, as they improve iron absorption.
2. Osteogenesis Imperfecta
Osteogenesis imperfecta is a syndrome that causes bone fragility due to some genetic disorders associated with type 1 collagen. The signs of this syndrome begin to appear in childhood, one of the main signs being the presence of blue sclera. Learn more about other signs of osteogenesis imperfecta.
Some bone deformities in the skull and spine, as well as laxity of the bone ligaments are quite visible in this condition, the most appropriate way that the pediatrician or orthopedist does to discover osteogenesis imperfecta is by analyzing these signs. The doctor may order a panoramic X-ray to understand the extent of the disease and indicate the appropriate treatment.
What to do: When checking for the presence of blue sclera and bone deformities, the ideal is to look for a pediatrician or orthopedist to confirm osteogenesis imperfecta and to indicate the appropriate treatment, which could be the use of bisphosphonates in the vein, which are medicines to strengthen the bones.In general, it is also necessary to make use of medical devices to stabilize the spine and undergo physiotherapy sessions.
3. Marfan Syndrome
Marfan syndrome is an inherited disease caused by a dominant gene, which compromises the functioning of the heart, eye, muscle and bone systems. This syndrome causes ocular manifestations, such as blue sclera and causes arachnodactyly, which is when the fingers are exaggeratedly long, changes in the chest bone and leaves the spine more curved to one side.
For families with cases of this syndrome, genetic counseling is recommended, in which genes will be analyzed and a team of professionals will provide guidance on treatment. Find out more about what genetic counseling is and how it is done.
What to do: the diagnosis of this syndrome can be made during pregnancy, however, if there is suspicion after birth, the pediatrician may recommend performing genetic tests and blood or imaging tests to see which parts of the body the syndrome has affected.As there is no cure for Marfan syndrome, treatment is based on controlling the changes in the organs.
4. Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome is a set of hereditary diseases characterized by a defect in collagen production, leading to skin and joint elasticity, as well as problems supporting the walls of arteries and blood vessels. Learn more about Ehlers-Danlos syndrome.
Symptoms vary from one person to another, but several changes can occur such as dislocations in the body, muscle contusion and people with this syndrome may have thinner skin on the nose and lips than normal, causing make injuries more likely. The diagnosis should be made by a pediatrician or general practitioner through a person's clinical and family history.
What to do: after confirmation of the diagnosis, follow-up with doctors from various speci alties such as cardiologist, ophthalmologist, dermatologist, rheumatologist, so that support measures are carried out to reduce the consequences of the syndrome in the different organs, as the disease has no cure and tends to worsen over time.
5. Use of medication
The use of some types of medication can also lead to the appearance of blue sclera, such as minocycline in high doses and in people who have been using it for more than 2 years. Other drugs to treat some types of cancer, such as mitoxantrone, can also cause the sclera to turn blue, in addition to causing the nails to depigmentation, leaving them with a grayish color.
What to do: these situations are very rare, however, if a person is taking any of these medications and notices that the white part of the eye is bluish in color it is important notify the doctor who prescribed the medication, so that the suspension, change in dose or exchange for another medication can be evaluated.