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Clinicopathologic Reports, Case Reports, and Small Case Series
April 2002

Congenital Mydriasis, Failure of Accommodation, and Patent Ductus Arteriosus

Arch Ophthalmol. 2002;120(4):509-510. doi:

Congenital mydriasis is a very rare abnormality that occurs in combination with a failure of accommodation. Herein we describe 2 patients in whom these ocular defects are associated with patent ductus arteriosus (PDA).

Report of Cases
Case 1

This 15-week-old infant was first seen by us 2 weeks after she had undergone surgery for a large PDA.1 Her parents had observed the dilated pupils since birth. The photographically measured diameter of the round pupils was 6.5 mm. They were not reactive to light, to an eyelid closure effort, or to the administration of up to a 1% concentration of pilocarpine eyedrops. Streak retinoscopy revealed a refraction of OD +3.0 diopter sphere (D sph) and OS +2.5 D sph that remained uninfluenced by topical application of pilocarpine. Apart from the lack of accommodation and pupillary constriction, all ocular findings were normal. No other pupillary abnormalities were known in the family. The infant was given spectacles to wear for focusing at close distance. Within the following 2 years, a tortuosity of the retinal arteries with several loops near the optic disc became apparent. Having now observed the girl for 9 years, the tortuosity has increased while the pupils have not become smaller (diameter, OU 6.78 mm). They did not dilate after administration of up to a 5% concentration of phenylephrine eyedrops. The iris stroma is hypotrophic, without crypts. Diaphanoscopy of the iris did not reveal an absence of the posterior pigmented iris epithelium nor was there any abnormal finding in the sphincter zone. The axial bulbus length is now OD 19.77 mm and OS 20.03 mm. Meanwhile, the refraction of +7.75 D sph combined with –1.0 cylinder × 171° OD and +7.25 D sph combined with –1.5 cyl × 172° OS is corrected by multifocal glasses. The visual acuity is 0.8 OD and 1.0 OS. The mental development of the girl is normal. Her length and body weight are near the third percentile.

Case 2

This prematurely born infant (at 34 weeks' gestation; weight, 1940 g) had been operated on for a large PDA at the age of 2 weeks. The diameter of her pupils was 7 mm without change either to light or to the administration of up to a 1 % concentration of pilocarpine eyedrops. There was also no dilatation after administration of a 5% concentration of phenylephrine eyedrops (photographic measurements). The examination with a handheld slitlamp revealed a persisting pupillary membrane (a grid of filiform tissue originating midstroma and reaching across the pupil). The iris stroma was hypotrophic, without crypts. Diaphanoscopy showed some small defects of the pigment epithelial layer at the 8- to 9-o'clock position of the left iris periphery. The lens was in its regular position. Indirect binocular ophthalmoscopy showed poor pigmentation of the fundus and a slight tortuosity of the retinal arteries. Streak retinoscopy revealed a refraction of OD +3.0 D sph and OS +2.5 D sph that did not change after application of 1% pilocarpine eyedrops. There was no known family history of other pupillary abnormalities. We prescribed a spectacle correction focusing at arm's length and have kept the infant under observation.

Comment

The first 2 reported cases of bilateral congenital mydriasis occurred in monozygotic twins.2 More females than males are affected, typically bilaterally.14 Unilateral congenital mydriasis was described,5 once in a male patient with Waardenburg syndrome.6 In hereditary cases, an autosomal dominant mode of inheritance and an X-linked mode with nonviability of males were discussed.2,4

The pathophysiologic correlate of congenital mydriasis and lack of accommodation is not unequivocal so far. A complete lack of cholinergic sensibility of the iris sphincter and the ciliary muscle can be discussed. If complete agenesis of the parasympathetically innervated muscles were the cause, diaphanoscopy of the iris should have revealed an absence of the iris sphincter muscle, but there was only peripheral spotty loss of the posterior pigmented iris epithelium in 1 eye of our patient 2. In case of (acquired) neurogenic origin, cholinergic supersensitivity should be expected, but all the reported cases of congenital mydriasis showed either no or only poor reaction to pilocarpine. In one patient, a 4% pilocarpine solution constricted the pupil a little and a 10% phenylephrine solution led to a rapid dilatation, suggesting the presence of an iris sphincter and dilator muscle.4 In our 2 cases an (congenital) aplasia of the small cells of the oculomotor complex is imaginable, leading to an "orthograde transsynaptic dysgenesis" of the corresponding muscles (the same mechanism can be imagined if a lack of sensibility of the cholinergic receptors was the cause), thus also explaining the lack of a response to pilocarpine. The lack of response to phenylephrine might be explained by fibrosis of the sphincter muscle tissue. Alternatively, a dysgenesis involving all the intraocular muscles can be discussed. Ataxia and oligophrenia are excluded in our case 1, and so far case 2 also reveals no findings pointing to Gillespie syndrome.7,8

An involvement of the ciliary muscle was recently mentioned in a case of congenital mydriasis.3 In most patients whose cases are reported in the literature, it cannot be excluded because of their old age.2,4,6 The history of one woman whose presbyopic symptoms had not appeared until she was 45 years old is only anecdotal.4 Regarding visual function, mydriasis may cause some glare and contribute to the blur of the retinal image, but the lack of accommodation is the decisive defect. To prevent amblyopia, correction of the refractive error is indicated with focusing at arm's length (if accommodation is impossible) in infancy, and from 6 months onward with the use of bifocal glasses focusing at arm's length and 1 m, and later by multifocal glasses. In addition, sunglasses are sensible.

Congenital mydriasis is an extremely rare condition, and the incidence of extreme PDA is low. Of 15 reports—several of which are based only on history and are not thorough—there are 3 well-documented cases that bear testimony to an association between bilateral congenital mydriasis, insufficiency of accommodation, and PDA. Such an association can therefore hardly be explained by pure chance. As a fundamental pathophysiologic mechanism, a receptor defect of the smooth muscles of both the eye and the media of the ductus arteriosus can be hypothesized. Further investigation will be necessary to elucidate the frequency and the mechanism of the link between a large PDA and a congenital defect of the ciliary muscle and the iris sphincter as well as the tortuosity of the retinal vessels. Any patient with a PDA should undergo a careful examination of the function of the intraocular muscles.

Corresponding author: Michael H. Gräf, MD, Department of Strabismology and Neuro-ophthalmology, University of Giessen, Friedrichstrasse 18, D-35385 Giessen (e-mail: michael.h.graef@augen.med.uni-giessen.de).

References
1.
Graf  M Bilateral congenital mydriasis and lack of accommodation. Ophthalmologe. 1996;93377- 379
2.
White  BVFulton  MN A rare pupillary defect inherited by identical twins. J Hered. 1937;28177- 179
3.
Buys  YBuncic  JREnzenauer  RWMednick  EO'Keefe  M Congenital aplasia of the iris sphincter and dilator muscle. Can J Ophthalmol. 1993;2872- 75
4.
Caccamise  WCTownes  PL Bilateral congenital mydriasis. Am J Ophthalmol. 1976;81515- 517
5.
Suzuki  TObara  YFujita  TShoji  E Unilateral congenital mydriasis. Br J Ophthalmol. 1994;78420Article
6.
Laor  NKorczyn  AD Waardenburg syndrome with a fixed dilated pupil. Br J Ophthalmol. 1978;62491- 494Article
7.
Richardson  PSchulenburg  WE Bilateral congenital mydriasis. Br J Ophthalmol. 1992;76632- 633Article
8.
Quarrell  O Gillespie syndrome reported as bilateral congenital mydriasis. Br J Ophthalmol. 1993;77827- 828Article
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