History
In 1961, a Danish ophthalmologist named Mette Warburg reported that a Danish family showed seven different cases of a hereditary degenerative disease throughout seven generations. The first member of the family to be thoroughly studied was a 12-month-old boy. At the child’s examination at three months, it was noticed that he was normal except for his lens appeared to be opaque and his irises were deteriorating. The area behind his lens was filled with a growing yellowish mass. Five months later, his left eye was removed due to the suspicion of retinoblastoma, a cancerous tumor on the retina. An histologic examination showed a hemorrhagic necrotic mass in the posterior chamber, surrounded by undifferentiated (immature, undeveloped) glial tissue. The diagnosis included a pseudotumor of the retina, hyperplasia of retinal, ciliary, and iris pigment epithelium, hypoplasia and necrosis of the inner layer of the retina, cataract, and Phthisis bulbi. This means his eye was removed because the physician suspected a tumor, although it emerged that it was a developmental defect that lead to the malformation of inner parts of the eye. Because the eye was not functional, cells already began to die (necrosis) and the eye globe began to shrink due to its dysfunction (phthisi bulbi). In this Danish family, five of the seven people in these cases developed deafness later in life. Also, in four of the seven, mental capacity was determined low. After Warburg researched literature under various medical categories, she discovered 48 similar cases which she believed were cause by this disease as well. She then suggested this disease be named after another famous Danish ophthalmologist, Gordon Norrie (1855–1941). Norrie was greatly recognized for his work with the blind and for being a surgeon at the Danish Institute for the Blind for 35 years.
Read more about this topic: Norrie Disease
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