Optic disc coloboma in a case of familial aniridia - A rare association
Abstract
Congenital aniridia is a panocular anomaly presenting with a variety of ocular defects. Common manifestations in the anterior segment include keratopathy, glaucoma, iris hypoplasia and cataracts, and those in the posterior segment include optic disc hypoplasia and foveal hypoplasia. We report a rare case of congenital familial aniridia that presented with bilateral optic disc coloboma apart from the other commonly associated panocular defects. Apart from defective embryogenesis, coexisting abnormal closure of the embryonic fissure is the likely reason for this rare manifestation. Knowledge regarding the various ocular defects that can be associated with Aniridia helps the clinician to look out for the same and prognosticate visual potential in such patients.
Full Text:
PDFReferences
Nelson et al: Aniridia. A Review. Survey of Ophthalmology, 28:62 I-642, 1984
Francois et al: The aniridia-Wilms’ tumor syndrome and
other associations of aniridia. Ophthalmol Paediatric Genetics Journal: 125-l 38, 1982
Helena Lee et al: Aniridia: current pathology and management. Acta Ophthalmologica. 2008: 86: 708–715
Grant WM, Walton DS: Progressive changes in the angle in congenital aniridia with development of glaucoma. American journal of Ophthalmology 18:842-847. 1974
Layman et al: Frequent occurrence of hypoplastic optic discs in patients with aniridia. .American Journal of Ophthalmology: 77:513-516, 1974
Duke-Elder S: Normal and Abnormal Development: Congenital Deformities: System of Ophthalmology Vol. 3. Part 2. St Louis, CV Mosby, 1963
Refbacks
- There are currently no refbacks.
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.
An Initiative of The Tamil Nadu Dr MGR Medical University