Congenital Aniridia with Ectopia Lentis

Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches

“…Defects in lens shape including aniridia-associated lens coloboma can also be a feature of aniridia ( Angmo et al, 2021 ; Singh et al, 2014 ), suggesting that mice and humans harboring PAX6 mutations may have similar lens phenotypes. Finally, zonular abnormalities have been observed in aniridia, leading to partial or complete lens dislocation ( D’Oria et al, 2021 ; Kusumesh and Ambastha, 2016 ; Puthalath et al, 2021 ; Voskresenskaya et al, 2021 ), although it is not clear whether this is a primary event arising during eye development, a defect in zonular homeostasis or caused by stress to the zonules due to the presence of a small lens in a normal-size eye.…”

Case Report: Conjunctival Intraepithelial Neoplasia

“…This study found that 22 patients (92%) had complete resolution with treatment, with a mean time to resolution of 3.25 months 12 . Two patients (8%) did not respond to treatment 12 . In another study by Nanji et al a 3% recurrence rate was found in patients who were treated with IFNα-2b, as compared to a 5% recurrence rate in patients who were treated surgically 13 .…”

“…No recurrences were seen at 6 months and 3 months respectively 11 . In another study by Kusumesh et al 24 eyes were treated using topical IFNα-2b (1 million IU/mL) 4 times daily 12 . This study found that 22 patients (92%) had complete resolution with treatment, with a mean time to resolution of 3.25 months 12 .…”

“…In another study by Kusumesh et al 24 eyes were treated using topical IFNα-2b (1 million IU/mL) 4 times daily 12 . This study found that 22 patients (92%) had complete resolution with treatment, with a mean time to resolution of 3.25 months 12 . Two patients (8%) did not respond to treatment 12 .…”