Bilateral congenital mydriasis.
A 73-year-old white woman with bilateral congenital mydriasis had no other obvious abnormalities. The pupils reacted almost imperceptibly to light. There was no detectable reaction to accommodation and convergence. Pupillary response to pilocarpine 4% solution indicated the presence of the sphincter muscle. However, the failure of the pupil to react to a potent cholinesterase inhibitor (demecarium bromide 0.25%) suggested an abnormality relative to acetylcholine production in the iris. Rapid and marked pupillary response to phenylephrine 10% solution indicated the presence of the dilator muscle. Analysis of the family history with eight known cases of bilateral congenital mydriasis occurring only in females suggested that the mechanism of inheritance is most probably autosomal dominant. A degree of sex limitation cannot be absolutely excluded.
D000368:Aged; D004108:Dilatation, Pathologic / Q000151:congenital / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008027:Light; D010375:Pedigree; D010656:Phenylephrine / Q000494:pharmacology; D010862:Pilocarpine / Q000494:pharmacology; D011680:Pupil / Q000187:drug effects; D000644:Quaternary Ammonium Compounds / Q000494:pharmacology
D000644:Quaternary Ammonium Compounds; D010862:Pilocarpine; D010656:Phenylephrine