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MICROPHTHALMIA (small eye) IMG_20210523_110217_408 - Coggle Diagram
MICROPHTHALMIA (small eye) 
Definition
Small eye globe which may be unilateral or bilateral, causes sight-threatening complications such as angle-closure glaucoma etc.
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Pathophysiology
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Linked genes include PAX6, OTX2, CHX10 and RAX
Chromosomal duplications, deletions and translocations are implicated
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References
Gal A, Rau I. Autosomal-recessive posterior microphthalmos 2011 Mar 11; 88(3): 392-90
Morrison D, Fitz P. National study of microphthalmia, anophthalmia and coloboma in Scotland: investigation of genetic aetiology. J Med Genet. 2002 Jan; 39(1): 16-22
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Causes
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Prenatal exposure to teratogens, alcohol,infections and pathogens e.g. toxoplasmosis
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