[The Rieger syndrome. A clinical study. A study of 4 generations in one family with the Rieger syndrome].
Rieger syndrome is a rare disease with autosomal dominant inheritance (4q25-4q27) characterised by the presence of ocular and extraocular abnormalities. We present a family with Rieger syndrome on four generations, pointing the ocular and extraocular abnormalities. The most frequent complication is secondary glaucoma (50-60% of all cases) and the efficient treatment consists in utilising the betablockers and/or filtering operations with the possibility of antimetabolites help.
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Clinica oftalmologică Iaşi.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002894:Chromosomes, Human, Pair 4; D005124:Eye Abnormalities / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome