Congenital polycoria, trichomegaly, and hereditary congenital cataract

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  • Congenital polycoria, trichocongenital cataractHarsha Bhattacharjee, MS, FRCP(Edin), Kasturi Bhatand Prerana Tahiliani, MBBS

    readily appreciated. All but one of the holes were located

    the strong family history of congenital hereditary cataract,it was felt that the boys ocular abnormalities were congen-ital as well.

    Discussion

    In polycoria, multiple pupillary openings are present in theiris. It is generally an isolated congenital abnormality andmay be either true or pseudo-polycoria. The former israre and is characterized by the presence of an intactsphincter muscle surrounding the openings of the acces-

    Volume 17 Number 6 / December 2013 Bhattacharjee, Bhattacharjee, and Tahiliani 619sory pupils, which are located at some distance from themain pupil.1-3 True polycoria is believed to manifest dueto one of the following traits: abnormal segregation of aportion of the pupillary margin,3,4 partial closure ofcoloboma by a bridge of tissue containing ectoderm andmesoectoderm,4 differentiation of pluripotent neuroecto-derm into muscle fibers,3 and defective separation of lensand cornea during development of the anterior chamber.5

    In pseudo-polycoria, the iris shows simple defects devoid

    Author affiliations: Sri Sankaradeva Nethralaya, Beltola, Guwahati, IndiaSubmitted January 25, 2013.Revision accepted June 30, 2013.Correspondence: Dr. Harsha Bhattacharjee, MS, FRCP(Edin), Sri Sankaradeva

    Nethralaya, 96, Basistha road, Guwahati 781028, India (email: ssnghy1@sify.com,forpreranat@gmail.com).J AAPOS 2013;17:619-620.Copyright 2013 by the American Association for Pediatric Ophthalmology and

    Strabismus.1091-8531/$36.00away from the pupil; the exceptional hole, oval in shape,adjoined the right pupil. All of the pupils appeared alikein structure, with a different pigmentation around them.The central pupil was irregular in shape and resistant tomydriasis. There were 8 and 6 such similar holes, varyingin size from 1 to 1.5 mm, in the right and left irides, respec-We report a case of bilateral true polycoria with associated ocularand adnexal abnormalities in a 3-year-old boy whose family mem-bers had hereditary cataracts. The case was managed conserva-tively with optical correction and treatment for amblyopia.

    Case Report

    A3-year-old boy presented to the outpatient clinic atSri Sankaradeva Nethralaya, India, for routineophthalmological examination. He was born pre-

    maturely at 32 weeks gestational age weighing 2.5 kg.Medical history was unremarkable. Family history wassignificant for congenital cataracts, involving the boysfather, sister, and 3 other family members (Figure 1). Onexamination, the boy had a normal head posture, withsymmetrical facial appearance and normal dentition. Hiseyelashes were abnormally long (Figure 2A). He hadhorizontal pendular nystagmus, more in the lateral gaze;however, there was no strabismus or restricted ocularmotility. He was cooperative during visual acuity testing.Distance visual acuity (using LEA symbols) was 6/24 inthe right eye and 6/19 in the left eye. Findings noted duringan examination under anesthesia are given in Table 1.His irides were hypoplastic, with multiple prominent iris

    crypts and poorly defined collarette. At the bottom of someof the crypts full thickness round or oval openings wereseen. The openings were located eccentrically in the cryptsand hence most were completely visible only following

    tively (Figure 2B), through which the fundal glow could behttp://dx.doi.org/10.1016/j.jaapos.2013.06.020

    Journal of AAPOSmegaly, and hereditary

    tacharjee, MS, FRCS(Glasg),

    mydriatics due to posterior synechiae, which appearedmore like a continuation of iris pigment across the pupillaryruff and over the anterior surface of the lens (Figure 2C).Passive constriction of the accessory pupils could not bedemonstrated due to posterior synechiae; however, allaccessory pupils dilated with mydriatics (Figure 2C). Thepatient also had a persistent pupillary membrane, remnanttunica vasculosa lentis, and an anterior capsular cataract.On binocular indirect ophthalmoscopy, the fundi werevisible up to the equator and were within normal limit.There was no foveal hypoplasia.The boys sister was noted to be pseudophakic, and his

    father had aphakia and was blind with glaucomatous opticatrophy. Further, his paternal grandfather, uncle, and auntwere affected and were aphakic following cataract surgeryfor congenital or developmental cataract. Considering

    FIG 1. Pedigree chart of a 3-year-old boy with congenital polycoriaand cataract showing family members affected by hereditary cataract.of surrounding sphincter muscles. Hypothetically, it is a

  • 620 Bhattacharjee, Bhattacharjee, and Tahiliani Volume 17 Number 6 / December 2013persistent iris coloboma, dehiscence, or diastasis.1-4 Inpseudo-polycoria, when the principal pupil dilates, theaccessory defects undergo passive constriction.Our patient presented without a history of prior ocular

    inflammation. Though uveitis due to juvenile idiopathicarthritis can be silent, the internist and physician evaluatedthe patient and ruled out any such association. There was

    interference fringes produced by multiple pupils.4

    with congenital and hereditary cataract affecting several

    FIG 2. Clinical photographs of the patients right eye showing longeyelashes on the eyelid (A) prominent crypts and few full thicknessopenings seen before instillation of mydriatic drops (B), and resistanceto dilatation of central pupil due to posterior synechiae and dilatation ofthe accessory pupils following instillation of mydriatic drops (C).other family members has not been previously reported.Genetic testing of the family members might throw morelight on the pattern of expression of the defect.

    Literature Search

    MEDLINE and ExcerptaMedica were searched, mostrecently on January 20, 2013, for relevant English-language publications using the following terms: polycoria,hereditary cataract, anterior segment dysgenesis, trichomegaly,and megalotrichiasis.

    Acknowledgments

    The authors gratefully acknowledge photographer Mr. PriangshuTalukdar.

    References

    1. Duke-Elder SS. System of Ophthalmology. In: Congenital Defor-mities, Vol. 3, pt. 2. St. Louis: Mosby; 1964. p. 592-3.

    2. Loewenfeld IE. Iris Damage. Anatomy, Physiology and ClinicalTrue polycoria is a congenital abnormality of the globe.However, its association with hereditary cataract andtrichomegaly could not be explained. A review of ocularand systemic associations in trichomegaly was conducted.Our patient had localized hypertrichosis of the lasheswith eyebrow and body hair distribution appearing normal.There were no features suggestive of Brachman de Langeor Goldstein Hutt syndrome or findings of cone-roddystrophy, oculocutaneous albinism, phenylketonuria,and tyrosinemia.6

    To the best of our knowledge, true polycoria and multi-ple congenital ocular and adnexal anomalies in a patientno evidence suggestive of TORCH infection, particularyrubella. In the present case, visual acuity impairment isprobably due to airy disk effects or diffraction rings and

    Parameters Right eye Left eye

    Refraction 12.25 0.50 90 12.25 0.50 90Intraocular pressurea 9 mm Hg 8 mm HgKeratometry K1: 44.50 D

    K2: 44.00 DK1: 44.25 DK2: 44.63 D

    Axial length 20.93 mm 21.03 mmAnterior chamber depth 3.00 mm 2.80 mm

    aTono-Pen (Reichert Inc, Depew, NY).Table 1. Ocular findings on examination under anesthesiaApplications. In: The pupil, Vol. 1. Detroit: Wayne State UniversityPress; 1993. p. 902-6.

    3. Islam N, Mehta JS, Plant GT. True polycoria or pseudopolycoria?Acta Ophthalmol Scand 2007;85:805-6.

    4. Mann I. The Iris Developmental Abnormalities of the Eye. London:British Medical Association; 1957. p. 252-4.

    5. Jafle NS, Knie P. True polycoria. Am J Ophthalmol 1952;35:253-5.6. Modjtahedi BS, Alikhan A, Maibach HI, Schwab IR. Diseases of peri-

    ocular hair. Surv Ophthalmol 2011;56:416-32.

    Journal of AAPOS

    Congenital polycoria, trichomegaly, and hereditary congenital cataractCase ReportDiscussionLiterature SearchAcknowledgmentsReferences