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

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.

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 [Fig. 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.

Figure 1

Pedigree analysis demonstrating the affected members of the family. Arrow indicates proband

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 [Fig 2A]. 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.

Table 1

Summary of findings in available family members

Fig 2A

(A) The brunescent cataractous lens, removed during the surgery of the right eye of the proband

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 [Fig. 2B]. 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 [Fig. 2C]. 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.

Fig. 2B

(B) Anterior segment picture showing partial aniridia, microspherophakic lens and pigment on the anterior lens capsule

Fig. 2C

(C) Indirect ophthalmoscopic view of the posterior pole of one of the children. Arrows indicate the Bergmeister papilla

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.