ABSTRACT
Purpose: To compare the visual outcomes and complications between the eyes receiving retropupillary iris claw intraocular lens (IOL) and scleral-fixated IOL (SFIOL) for post-cataract aphakia. Methods: Medical records of consecutive patients who had iris claw IOL and SFIOL surgery from January 2010 to March 2015, with > 1 year of follow up were retrospectively analyzed. The surgical technique was based on individual surgeon preference. The best-corrected distance visual acuity (BCDVA), previous surgery, surgical technique, and complications were analyzed. Results: Retropupillary iris claw IOL was fixated in 48 eyes (46%) and SFIOL was performed in 56 eyes. Iris claw was performed more frequently at the time of primary cataract surgery (56%) compared to SFIOL (14%) (P < 0.001). At 1 month postoperative, BCDVA was significantly better in the SFIOL group [0.7 ± 0.5 logarithm of minimum angle of resolution (logMAR) in iris claw vs. 0.3 ± 0.2 logMAR in SFIOL, P < 0.001] but this difference did not persist at 1 year (0.4 ± 0.4 logMAR in iris claw vs. 0.3 ± 0.2 logMAR in SFIOL, P = 0.56). Eyes with iris claw IOL experienced significantly more postoperative iritis (17%), intraocular pressure spikes (10%), and ovalization of the pupil (16%). Conclusion: Retropupillary iris claw IOL fixation is as safe as SFIOL for visual rehabilitation of post-cataract aphakia. Visual rehabilitation following iris claw IOL might take longer than SFIOL. Ovalization of the pupil is the commonest adverse effect reported with this type of IOL design.
ABSTRACT
Purpose: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management. Methods: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent a standard ophthalmic evaluation followed by molecular screening of PAX6 gene in the peripheral blood for mutation detection. Results: The three affected individuals had aniridia with several common features and an uncommon presentation of bilateral congenital ptosis. Two affected siblings, a brother and a sister, had aniridia, nystagmus, ptosis, increase in central corneal thickness, cataract, and foveal hypoplasia. The sister had features of glaucoma. The offspring of the sister had all the features except cataract and rise in intraocular pressure. Mutation screening of PAX6 gene helped in identifying a novel heterozygous pathogenic variation g. 31801757dupG (c. 216-19dupG) that resulted in a frameshift mutation that extended into exon 7. Based on the evaluation and diagnostic testing, the family was clinically managed along with genetic counselling. Conclusion: Molecular diagnostic testing helps in genetic counseling of the family with aniridia to understand the nature of the disease and detection of complications early for better management.