Middle East African Journal of Ophthalmology

CASE REPORT
Year
: 2014  |  Volume : 21  |  Issue : 3  |  Page : 268--270

Rare association of familial aniridia, microcornea with myopia and aphakia


Jaya Biswas1, Asim Chakrabarti1, Debabrata Das2,  
1 Department of Ophthalmology, R. G. Kar Medical College, Kolkata, India
2 Midnapur Medical College, Midnapur, West Bengal, India

Correspondence Address:
Dr. Jaya Biswas
Department of Ophthalmology, R. G. Kar Medical College, Kolkata 700004, West Bengal
India

Abstract

Aniridia is a rare congenital malformation that may be associated with various ocular and systemic manifestations. We describe two cases of familial total aniridia associated with microcornea, high myopia and dislocated lens. No systemic abnormality was noted in any of the cases.



How to cite this article:
Biswas J, Chakrabarti A, Das D. Rare association of familial aniridia, microcornea with myopia and aphakia.Middle East Afr J Ophthalmol 2014;21:268-270


How to cite this URL:
Biswas J, Chakrabarti A, Das D. Rare association of familial aniridia, microcornea with myopia and aphakia. Middle East Afr J Ophthalmol [serial online] 2014 [cited 2021 Mar 5 ];21:268-270
Available from: http://www.meajo.org/text.asp?2014/21/3/268/134693


Full Text

 Introduction



Aniridia is a rare bilateral congenital malformation of iris due to neuro-ectodermal developmental defect secondary to a mutation in PAX6 gene located on chromosome 11p13. The incidence of aniridia is estimated to be 1 in 60,000-100,000 live births. [1] It exists in both sporadic and familial form. It may occur in isolation or associated with number of syndromes such as WAGR (Wilm's tumor, bilateral aniridia, genitourinary abnormalities and mental retardation). The PAX6 gene is an essential transcription factor for the formation of eye.

The PAX6 mutations cause a spectrum of ocular malformations, of which aniridia is the major sign. Other ocular defect that may be associated includes microcornea, corneal opacity, glaucoma, cataract, subluxated lens, foveal and optic nerve hypoplasia. We report two cases of familial total aniridia associated with microcornea, high myopia and aphakia.

 Case Reports



Case 1

A 40-year-old male patient presented with marked dimness of vision for last 1 year. He gave history of poor vision since childhood. His father died 6 years back and had very poor vision. His elder brother (only sibling) had visual acuity of 6/6 with -1.5 dioptre sphere (Dsph) without any other ocular abnormalities. His mother was normal. He had no history of cataract surgery in either eye. Ocular examination revealed best corrected visual acuity in right eye (RE) counting finger at 3 feet and 3/60 in left eye (LE) with + 7.0 Dsph. He had marked horizontal nystagmus. Slit lamp examination showed bilateral total aniridia with superiorly subluxated cataractous lens in the RE [Figure 1] and aphakia in the LE. The corneal diameter was 10 mm in both the eyes (BE). The radius of corneal curvature was 8.8 mm in the RE and 8.6 mm in the LE. The refractive power of cornea of the RE in dioptre (D) was 39.0 in both vertical and horizontal meridian. It was 39.0D and 38.5D respectively in the LE. The anterior chamber depth in the RE was 1.54 mm and in the LE was 1.48. The axial length was 25.57 mm and 25.34 mm in the RE and LE respectively. Corneal epithelium was normal. IOP measured in BE with Goldmann applanation tonometry was 16 mm Hg. Gonioscopy of BE revealed rudimentary frill of iris tissue in all quadrants and the angle was open. Retina of RE could not be examined with ophthalmoscope because of dense cataract. Organized vitreous with complete PVD was noted in the RE USG B scan. There was no retinal detachment. His LE was aphakic. Indirect ophthalmoscopy revealed dislocated lens in vitreous through hazy media. There was marked disc pallor with peripapillary atrophy, chorioretinal degeneration and retinal hemorrhage. USG B scan of the LE revealed dislocated lens in vitreous and vitreous opacities. [Figure 2]. Nephrological evaluation was normal.{Figure 1}{Figure 2}

Case 2

A 7-year-old girl, the only child of case I, had poor vision since early childhood. Her mother had no ocular abnormality. Her best corrected visual acuity was 6/36 BE with -7.0 Dsph and -1.0 dioptre cylinder (Dcyl) at 90°. She had bilateral total aniridia, microcornea, microspherophekic lens [Figure 3] and horizontal nystagmus. Average corneal diameter of BE was 9.5 mm. Radius of corneal curvature was 8.6 mm in the RE and 8.3 mm in the LE. The refractive power of cornea of the RE was 38.5D in vertical and 37.5D in horizontal meridian. It was 38.5D and 38.0D respectively in the LE. The anterior chamber depth was 1.34 mm in BE. The axial length was 24.62mm and 24.57 mm in RE and LE respectively. The diameter of lens was 7.9 mm in BE and IOP in BE with Goldmann applanation tonometry was 14 mm Hg. Gonioscopy of BE revealed rudimentary frill of iris tissue in all quadrants and the angle was open. Fundus examination of BE revealed normal optic disc with foveal hypoplasia [Figure 4]. She had normal renal ultrasound result.{Figure 3}{Figure 4}

 Discussion



Aniridia is a rare congenital abnormality transmitted as an autosomal dominant trait with 85-90% penetrance. [2] Microcornea may rarely be associated with aniridia. [3],[4] High myopia is again a very rare association with aniridia and microcornea. [5] Both these abnormalities were present in our case. Aniridia and lenticular abnormalities like cataract and subluxated lens may co-exist. [1],[3],[4]

Case I had subluxated cataractous lens in the RE and aphakia in the LE due to spontaneously dislocated lens in vitreous cavity in the LE. To the best of our knowledge, in the literature of aniridia association of aphakia has been very rarely reported. [6] In case II there was microspherophekic lens in BE.

Aniridia may be associated with defects in angle of anterior chamber and glaucoma, but the findings were not present in our cases. Foveal hypoplasia that may be associated with aniridia was present in our case. [2]

None of the patients was mentally retarded and thorough systemic examination was normal.

Our cases highlight the rare association of congenital aniridia with microcornea, aphakia and high myopia.

References

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2Sorsby A. Maldevelopmental defects in Modern Ophthalmology. 2 nd ed., Vol. 3. London: Butterworth; 1972. p. 234.
3David R, Macbeath L, Jenkins T. Aniridia associated with microcornea and subluxated lenses. Br J Ophthalmol 1978;62:118-21.
4Yamamoto Y, Hayaska S, Setogawa T. Family with aniridia, microcornea and spontaneously reabsorbed cataract. Arch Ophthalmol 1988;106:502-4.
5Naithani 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.
6Moreker M, Parikh R, Parikh SR, Thomas R. Aniridia associated with congenital aphakia and secondary glaucoma. Indian J Ophthalmol 2009;57:313-4.