National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Keratomalacia is not the name you expected.
Keratomalacia is an eye (ocular) condition, usually affecting both eyes (bilateral), that results from severe deficiency of vitamin A. That deficiency may be dietary (i.e., intake) or metabolic (i.e., absorption). Vitamin A is essential for normal vision as well as proper bone growth, healthy skin, and protection of the mucous membranes of the digestive, respiratory, and urinary tracts against infection.
Early symptoms may include poor vision at night or in dim light (night blindness) and extreme dryness of the eyes (i.e., xerophthalmia), followed by wrinkling, progressive cloudiness, and increasing softening of the corneas (i.e., keratomalacia). With advancing vitamin A deficiency, dry, "foamy," silver-gray deposits (Bitot spots) may appear on the delicate membranes covering the whites of the eyes. Without adequate treatment, increasing softening of the corneas may lead to corneal infection, rupture (perforation), and degenerative tissue changes, resulting in blindness. In addition, in some cases, vitamin A deficiency may have additional effects, particularly during infancy and childhood.
In some developing countries, vitamin A deficiency in the diet and associated keratomalacia are a major cause of childhood blindness. In such regions, vitamin A deficiency often occurs as part of nonselective general malnutrition in infants and young children. Although rare in developed countries, vitamin A deficiency and keratomalacia may occur secondary to conditions associated with impaired absorption, storage, or transport of vitamin A, such as celiac disease, ulcerative colitis, cystic fibrosis, liver disease, or intestinal bypass surgery and any condition that affects absorption of fat-soluble vitamins.
Blind Children's Center
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Genetic and Rare Diseases (GARD) Information Center
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NIH/National Eye Institute
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NIH/National Institute of Diabetes, Digestive & Kidney Diseases
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Prevent Blindness America
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World Health Organization (WHO)
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 1/4/1970
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