Inherited partial aniridia, microcornea with high myopia and Bergmeister's papilla: A new phenotypic expression

Prashant Naithani; Ankur Sinha; Viney Gupta

doi:10.4103/0301-4738.39120

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Year : 2008 | Volume : 56 | Issue : 2 | Page : 145-146

Inherited partial aniridia, microcornea with high myopia and Bergmeister's papilla: A new phenotypic expression

Prashant Naithani, Ankur Sinha, Viney Gupta
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India

Date of Submission	05-Jan-2006
Date of Acceptance	21-May-2007
Date of Web Publication	16-Feb-2008

Correspondence Address:
Viney Gupta
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi - 110 029
India

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/0301-4738.39120

Abstract

We describe a rare case of familial partial aniridia with high myopia and Bergmeister papilla in five members of a family. Cataract surgery was performed on the proband wherein a brown black spherophakic lens was extracted.

Keywords: Bergmeister papilla, microcornea, partial aniridia

How to cite this article:
Naithani P, Sinha A, Gupta V. Inherited partial aniridia, microcornea with high myopia and Bergmeister's papilla: A new phenotypic expression. Indian J Ophthalmol 2008;56:145-6

How to cite this URL:
Naithani P, Sinha A, Gupta V. Inherited partial aniridia, microcornea with high myopia and Bergmeister's papilla: A new phenotypic expression. Indian J Ophthalmol [serial online] 2008 [cited 2021 Jan 18];56:145-6. Available from: https://www.ijo.in/text.asp?2008/56/2/145/39120

Table 1: Summary of findings in available family members

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Aniridia, an uncommon congenital defect of the iris morphology, is mainly transmitted as an autosomal dominant trait.^[1] Being a bilateral, panocular disorder, the cornea (microcornea, corneal opacity), anterior chamber angle (glaucoma), lens (cataract, subluxation), retina (foveal hypoplasia) and optic nerve (nerve hypoplasia) can also be involved.^[1] We describe unique anterior and posterior segment anomalies in twin sisters and three children of one of the twins [Figure - 1]. The aim of this report was to describe the combination of partial aniridia with microcornea,^[2] uncorrected high myopia and Bergmeister's papilla as a syndrome, previously unreported.

Case Reports

Case II-3 (Proband)

A 26-year-old lady presented with marked deterioration of visual acuity since last six months. Her visual acuity had been poor since childhood. Ophthalmic examination revealed bilateral partial aniridia with microcornea and horizontal nystagmus. Best-corrected visual acuity (BCVA) was finger counting at 1 meter in both eye (BE). Average corneal diameters were 10.0 mm right eye (RE) and 9.5 mm left eye (LE). She had bilateral temporally subluxated microspherophakic cataractous lens with diffuse iris pigment dusting on anterior surface of the lens capsule. Intraocular pressure (IOP) was 14 mm Hg in BE. The crystalline lens thickness was markedly increased in BE [Table - 1]. Retina could not be evaluated due to dense cataracts; however, ultrasonography (USG) B-scan showed no gross posterior segment abnormality in BE. She underwent RE cataract extraction and anterior vitrectomy after which her BCVA was 20/200 RE. The extracted lens was brown black and spherophakic [Figure - 2]A. Posterior pole examination revealed diffuse chorioretinal degeneration, optic disc hypoplasia with Bergmeister's papilla and a dull foveal reflex. No evidence of glaucomatous damage was present. No urologic or other systemic malformations were noted on systemic examination.

Case II-4

The proband's twin (non-identical) sister also suffered from decreased visual acuity since childhood. Her medical reports revealed a diagnosis of partial aniridia with subluxated cataractous lens in BE for which she had undergone pars plana lensectomy with anterior vitrectomy in BE. The BCVA with aphakic contact lenses was 20/200 in BE.

Cases III-1, III-2 and III-3

The proband's children (girl aged nine years and two boys aged six and five years respectively) suffered from poor visual acuity but were otherwise normal in all respects including birth and developmental history. On examination all had bilateral partial aniridia with microcornea and horizontal nystagmus. Average corneal diameter varied from 8.75 to 9.75 mm. All six eyes of the three children had iris pigment dusting of anterior lens capsule [Figure - 2]B. The IOP ranged from 14 to 16 mm Hg. Fundus evaluation with video-assisted indirect ophthalmoscope revealed severe chorioretinal degeneration. There was presence of variable degrees of optic disc hypoplasia with Bergmeister's papillae being present in all the eyes [Figure - 2]C. No evidence of glaucomatous cupping was seen in any of the eyes. Variable degrees of macular hypoplasia were also noted. General physical examination revealed the patients to have normal heights for their ages, no archanodactyly or cardiac murmurs were found suggestive of Marfans Syndrome. An USG abdomen revealed no abnormality in any of the three children.

Discussion

This family presents a unique combination of anterior and posterior segment anomalies in aniridia that have not been described together previously. Four of the family members of the index patient, who were available for examination to us, had partial aniridia, microcornea, uncorrected high myopia and bilateral Bergmeister's papilla. The inheritance pattern appeared to be an autosomal dominant mode of transmission.

Microcornea is frequently associated with eyes in which both the anterior and posterior axial lengths are short, however, it has also been documented with normal or increased axial length.^[1] Microcornea itself is an uncommon association with aniridia, though it has been described previously.^[2],[3] But the association of high myopia with aniridia and microcornea, to our knowledge has never been reported. The high myopia in these family members was attributed to the microspherophakic lenses. The presence of bilateral Bergmeister's papilla, an indicator of maldevelopment of the posterior segment in all the affected family members is another unique feature in this family.

Lenticular abnormalities like cataract and ectopia lentis are known to be associated with aniridia.^[4] Such subluxation if present since early childhood may cause high astigmatism and form vision deprivation.

This rare familial presentation of partial aniridia with microcornea, lenticular and fundal dysgenesis needs further genetic evaluation, preferably exclusion mapping by linkage analysis in this family to narrow down the gene defect to confirm this new syndrome. Ophthalmologists should consider the presence of this syndrome in patients with partial aniridia with such unusual ocular malformations.

References

1.	Pallotta R, Fusilli P, Sabatino G, Verrotti A, Chiarelli F. Confirmation of the colobomatous macrophthalmia with microcornea syndrome: Report of another family. Am J Med Genet 1998;76:252-4. [PUBMED] [FULLTEXT]
2.	David R, MacBeath L, Jenkins T. Aniridia associated with microcornea and subluxated lenses. Br J Ophthalmol 1978;62:118-21. [PUBMED] [FULLTEXT]
3.	Yamamoto Y, Hayaska S, Setogawa T. Family with aniridia, microcornea and spontaneously reabsorbed cataract. Arch Ophthalmol 1988;106:502-4.
4.	Nelson LB, Spearh GL, Nowinski TS, Margo CE, Jackson L. Aniridia: A review. Surv Ophthalmol 1984;28:621-42.