Fanconi anemia and primary cataracts: first case |
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Authors: | M Merriman J Mora J McGaughran |
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Institution: | Department of Ophthalmology and Northern Regional Genetics Service, Auckland Hospital, Auckland, New Zealand |
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Abstract: | Fanconi anemia or pancytopenia is an autosomal recessive condition presenting with a combination of pancytopenia with a mean age of onset of about eight years, a tendency to leukemia, and congenital anomalies. Although ocular abnormalities have been described, cataracts have not been previously reported. We present a patient with proven Fanconi anemia and cataracts. |
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Keywords: | Gaucher Disease retina paediatrics optical coherent tomography |
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