Dr. Jayesh Suresh Patil, P18093, Dr. Amrita Ajani, Dr. Trupti Shreyans Gadiya, Gunjan Ingle
Purpose : To describe case of aniridia with ptosis, lens coloboma, myopia & foveal hypoplasia.
Method : Aniridia is a congenital panocular disorder caused by haploinsufficiency of PAX6 gene. A 5 year old girl was brought to us for photophobia, poor vision and drooping eyelids. Antenatal, birth and family history was normal. BCVA was 6/90, N10 OU. Cycloplegic refraction was -6DS/-6DC/1800 OU. Mild ptosis with poor Bell’s phenomenon & good LPS action noted. OU fixation was central unsteady and maintained. Ocular surface examination was normal. Both eyes had aniridia with clear & inferior colobomatous lens. Intraocular pressure was normal. OU foveal hypoplasia was noted. Extraocular movements were normal. USG abdomen was normal. Refractive error correction given and regular follow up was advised.
Conclusion : Sporadic Aniridia is complex disorder that can be associated with ptosis. Conservative approach with regular ocular & systemic examination is necessary to prevent visual impairment.