EyeRounds Online Atlas of Ophthalmology

Contributor:
William Charles Caccamise Sr,MD, Retired Clinical Asst Prof of Ophthal. U.of Rochester School of Medicine & Dentistry

Category: Neuro-ophthalmology
Diagnosis: familial bilateral congenital mydriasis

Image Comments:

The patient was a 73 year-old white female with bilateral congenital mydriasis and no other abnormalities. The pupils reacted almost imperceptibly to light.Pharmacologic responses of the pupil to pilocarpine 4% solution, demecarium bromide 0.25%, and phenylephrine 10% indicated the presence of both the dilator muscle and the sphincter muscle but an abnormality relative to acetylcholine production in the iris.There was excellent response on the part of the pupil to 10% phenylephrine - indicating the presence of the dilator muscle.The family history of 8 female members with bilateral congenital mydriasis suggested an autosomal dominant inheritance mechanism with a possible degree of sex limitation. Google: caccamise and townes. Reference: Caccamise(ophthalmologist) and Townes (medical geneticist): AJO. 1976 Apr;81(4):515-7

Older patients usually have much smaller pupils than when they were young - an indication of decreased sympathetic neuro-effect on the dilator muscle.

 

 

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