Congenital aniridia - Hungarian data of a spectrum disease

Introduction: Congenital aniridia is a rare disease, characterised by the complete or partial absence of the iris, but lesions may be present in all structures of the eye.Objective: To determine the prevalence of ocular diseases in congenital aniridia by analyzing patients from a Hungar-ian centre.Patients and methods: Patients at the Department of Ophthalmology of Semmelweis University, examined between October 2005 and May 2022, have been included. After taking the patients' medical history, a detailed ophthalmo-logical examination has been performed.Results: Of the 82 patients in the database, 33 (age 25.69 +/- 17.49 [5-59] years, 17 females [51.51%]) presented for examination and 65 eyes were examined. Nystagmus was found in 45 eyes of 23 patients (69.23%), and the patients' uncorrected distance visual acuity was 0.14 +/- 0.128 (0.9 logMAR; 0.63-0.005). The aniridia-associated keratopathy was Grade 0 in 8 eyes (12.3%), Grade 1 in 10 eyes (15.38%), Grade 2 in 16 eyes (24.62%), Grade 3 in 4 eyes (6.15%) and Grade 4 in 25 eyes (38.46%). 30 eyes (46.15%) of 15 patients had secondary glaucoma, 6 eyes (9.2%) of 3 pa-tients were glaucoma suspect. 8 eyes (12.3%) had a clear lens, 44 eyes (67.69%) had cataract, of which 22 (33.84%) were anterior cortical polar cataracts. 13 eyes (20%) were pseudophakic (PCL) and 7 eyes (10.77%) had lens disloca-tion or zonular insufficiency. Macular hypoplasia was found in 6 eyes of 3 patients (4.6%) and optic nerve head mal-formation in 2 eyes of 1 patient (3.03%).Conclusion: The ocular signs of congenital aniridia are aniridia-associated keratopathy, secondary glaucoma, cataract, macular and optic nerve head hypoplasia. Systematic collaboration of different ophthalmological specialties is re-quired for the management and care of all these ocular abnormalities.

Automated summary

The study aimed to determine the prevalence of ocular diseases in patients with congenital aniridia from a Hungarian center. Through examinations and detailed ophthalmological assessments of 82 patients, common ocular diseases associated with congenital aniridia were identified, including aniridia-associated keratopathy, secondary glaucoma, cataract, macular hypoplasia, and optic nerve head malformation. The findings highlight the need for systematic collaboration among different ophthalmological specialties to manage and care for these ocular abnormalities.