Congenital Aniridia: Long-term Clinical Course, Visual Outcome, and Prognostic Factors

Overview

Journal Korean J Ophthalmol

Specialty Ophthalmology

Date 2014 Dec 2

PMID 25435751

Citations 14

Authors

Ji Woong Chang

Jeong Hun Kim

Seong-Joon Kim

Young Suk Yu

Affiliations

Soon will be listed here.

Abstract

Purpose: To describe the clinical course of congenital aniridia and to evaluate prognostic factors for visual outcome after long-term follow-up.

Methods: The medical records of 120 eyes from 60 patients with congenital aniridia were retrospectively reviewed. The prevalence and clinical course of ophthalmic characteristics, systemic disease, refractive errors, and visual acuity were assessed. Prognostic factors for final visual outcomes were analyzed.

Results: Aniridic keratopathy developed in 82 (69%) of 119 eyes. Macular hypoplasia was observed in 70 eyes of 35 patients (91%). Cataract was observed in 63 of 120 eyes (53%). Nystagmus was present in 41 patients (68% of 60 patients) at the initial visit but decreased in five patients (8% of 60 patients). Ocular hypertension was detected in 19 eyes (20% of 93 eyes), six (32% of 19 eyes) of which developed secondarily after cataract surgery. The mean changes in spherical equivalent and astigmatism during the follow-up period were -1.10 and 1.53 diopter, respectively. The mean final visual acuity was 1.028 logarithm of minimal angle of resolution. Nystagmus and ocular hypertension were identified as prognostic factors for poor visual outcome.

Conclusions: Identification of nystagmus and ocular hypertension was important to predict final visual outcome. Based on the high rate of secondary ocular hypertension after cataract surgery, careful management is needed.

Citing Articles

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Clinical and molecular aspects of congenital aniridia - A review of current concepts.

Tibrewal S, Ratna R, Gour A, Agarkar S, Dubey S, Ganesh S Indian J Ophthalmol. 2022; 70(7):2280-2292.

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References

Glaser T, Walton D, Maas R . Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet. 1992; 2(3):232-9. DOI: 10.1038/ng1192-232. View

Ton C, Hirvonen H, Miwa H, Weil M, Monaghan P, Jordan T . Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell. 1991; 67(6):1059-74. DOI: 10.1016/0092-8674(91)90284-6. View

Churchill A, Booth A . Genetics of aniridia and anterior segment dysgenesis. Br J Ophthalmol. 1996; 80(7):669-73. PMC: 505566. DOI: 10.1136/bjo.80.7.669. View

Grove J, Shaw M, Bourque G . A family study of aniridia. Arch Ophthalmol. 1961; 65:81-94. DOI: 10.1001/archopht.1961.01840020083016. View

McCulley T, Mayer K, Dahr S, Simpson J, Holland E . Aniridia and optic nerve hypoplasia. Eye (Lond). 2004; 19(7):762-4. DOI: 10.1038/sj.eye.6701642. View

Schulze-Bonsel K, Feltgen N, Burau H, Hansen L, Bach M . Visual acuities "hand motion" and "counting fingers" can be quantified with the freiburg visual acuity test. Invest Ophthalmol Vis Sci. 2006; 47(3):1236-40. DOI: 10.1167/iovs.05-0981. View

Eden U, Beijar C, Riise R, Tornqvist K . Aniridia among children and teenagers in Sweden and Norway. Acta Ophthalmol. 2008; 86(7):730-4. DOI: 10.1111/j.1755-3768.2008.01310.x. View

Eden U, Iggman D, Riise R, Tornqvist K . Epidemiology of aniridia in Sweden and Norway. Acta Ophthalmol. 2008; 86(7):727-9. DOI: 10.1111/j.1755-3768.2008.01309.x. View

Fideliz de la Paz M, Alvarez de Toledo J, Barraquer R, Barraquer J . Long-term visual prognosis of corneal and ocular surface surgery in patients with congenital aniridia. Acta Ophthalmol. 2008; 86(7):735-40. DOI: 10.1111/j.1755-3768.2008.01293.x. View

10.

Lee H, Khan R, OKeefe M . Aniridia: current pathology and management. Acta Ophthalmol. 2008; 86(7):708-15. DOI: 10.1111/j.1755-3768.2008.01427.x. View

11.

Neuhann I, Neuhann T . Cataract surgery and aniridia. Curr Opin Ophthalmol. 2009; 21(1):60-4. DOI: 10.1097/ICU.0b013e328333ea49. View

12.

Holmstrom G, Eriksson U, Hellgren K, Larsson E . Optical coherence tomography is helpful in the diagnosis of foveal hypoplasia. Acta Ophthalmol. 2009; 88(4):439-42. DOI: 10.1111/j.1755-3768.2009.01533.x. View

13.

Lee H, Meyers K, Lanigan B, OKeefe M . Complications and visual prognosis in children with aniridia. J Pediatr Ophthalmol Strabismus. 2010; 47(4):205-10. DOI: 10.3928/01913913-20090818-07. View

14.

Eden U, Riise R, Tornqvist K . Corneal involvement in congenital aniridia. Cornea. 2010; 29(10):1096-102. DOI: 10.1097/ICO.0b013e3181d20493. View

15.

Park S, Park Y, Lee M, Kim M . Clinical features of Korean patients with congenital aniridia. Korean J Ophthalmol. 2010; 24(5):291-6. PMC: 2955272. DOI: 10.3341/kjo.2010.24.5.291. View

16.

Taylor R, Ainsworth J, Evans A, Levin A . The epidemiology of pediatric glaucoma: the Toronto experience. J AAPOS. 1999; 3(5):308-15. DOI: 10.1016/s1091-8531(99)70028-5. View

17.

Nishina S, Kohsaka S, Yamaguchi Y, Handa H, Kawakami A, Fujisawa H . PAX6 expression in the developing human eye. Br J Ophthalmol. 1999; 83(6):723-7. PMC: 1723067. DOI: 10.1136/bjo.83.6.723. View

18.

Sonoda S, Isashiki Y, Tabata Y, Kimura K, Kakiuchi T, Ohba N . A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia. Graefes Arch Clin Exp Ophthalmol. 2000; 238(7):552-8. DOI: 10.1007/s004170000124. View

19.

GRANT W, Walton D . Progressive changes in the angle in congenital aniridia, with development of glaucoma. Trans Am Ophthalmol Soc. 1974; 72:207-28. PMC: 1311398. View

20.

Elsas F, Maumenee I, Kenyon K, Yoder F . Familial aniridia with preserved ocular function. Am J Ophthalmol. 1977; 83(5):718-24. DOI: 10.1016/0002-9394(77)90139-8. View