The potential risks and benefits of cataract surgery, in context of congenital aniridia (CA), are not widely understood, yet. Our purpose was to investigate the effect of lens properties on visual acuity (VA), aniridia-associated keratopathy (AAK) stage and presence of glaucoma at the Homburg Aniridia Center. CA subjects, examined at the Department of Ophthalmology of Saarland University between June 2003 and January 2022, were included. VA, slit-lamp examination, AAK grade, and glaucoma evaluation data were extracted from the medical records, from the first visit to the center. Eyes were categorized as clear lens, cataract, pseudophakic, aphakic, or subluxated lens. Patients were grouped by age (0-10, 10-20, 20-40, 40+ years). In 553 eyes of 286 CA subjects (age 19.9 ± 19.9 (0-83) years, 46.1% males), analysis revealed significant differences in VA and mean IOP (ANOVA p < 0.0001; p = 0.001, respectively) with lens status. Lens status was strongly associated with AAK Grade and glaucoma presence (p < 0.0001 for both). In age subgroups, AAK Stage was strongly associated with lens status in the 0-10 years (p < 0.001), 10-20 years (p < 0.001), and 40+ years (p = 0.02) groups and lens status was strongly associated with glaucoma presence in the 0-10 years (p = 0.003) and 20-40 years (p = 0.002) groups. AAK Stage was the most advanced in pseudophakic and aphakic eyes and presence of glaucoma was more pronounced in pseudophakic, aphakic and subluxated lens eyes. In a large population of CA, previous cataract surgery was associated with higher AAK Grade and presence of secondary glaucoma both in postoperatively pseudophakic and aphakic eyes. Our data indicate that caution is warranted with cataract surgery in congenital aniridia.

Purpose: In PAX6 syndrome, it is still not clear, whether prenatally, parallel to the iris tissue developmental anomaly, there is neural ectodermal, neural crest, or mesodermal cell deposition at the corneal endothelium, affecting endothelial structure and function. In addition, because of the postnatal corneal inflammation and commonly appearing secondary glaucoma, progressive endothelial changes are expected. Our purpose was to study the corneal endothelium in subjects with PAX6 aniridia, using in vivo confocal laser scanning microscopy. Methods: Twenty-seven eyes of 16 subjects with congenital aniridia (age 28.25 ± 16.32 [11–59] years, 8 [50%] female) and 40 eyes of 26 healthy subjects (age 33.8 ± 15.2 [14–67] years, 17 [58.6%] females) were examined. Aniridia-associated keratopathy and iris malformation were graded, and means of endothelial cell density, cell area, cell diameter, spatial pattern of cell centroids (Clark–Evans index), polygonality, neighbor count, percentage of hexagonal cells, and endothelial deposit number were determined by in vivo confocal laser scanning microscopy. Results: Mean cell diameter and mean Clark–Evans index were significantly lower (P = 0.049; P = 0.008) in congenital aniridia eyes than in controls. There were hyperreflective endothelial deposits in congenital aniridia eyes but not in controls (P < 0.001). Only aniridia-associated keratopathy grade correlated positively with mean endothelial deposit number (P = 0.017). Conclusions: In congenital aniridia, the corneal endothelium might possess a slightly better quality and greater reserves than in healthy subjects. Corneal endothelial deposition seems to be independent from developmental abnormalities but may be related to up to date undescribed endothelial inflammatory or metabolic changes.

Background/Objectives: PAX6 haploinsufficiency-related congenital aniridia is a panocular disease affecting multiple ocular structures. The aim of this study was to determine the biometric properties of eyes affected by PAX6 haploinsufficiency-related classical congenital aniridia using a non-contact device. Methods: Fifty-nine eyes from 31 aniridia patients (48.39% male; mean age 27.0 ± 17.65 years, range 7–56) and 99 eyes from 50 healthy controls (44.00% male; mean age 28.56 ± 21.73 years, range 4–81) were examined using the Movu biometer (Argos Inc.). Axial length (AL), corneal diameter (CD), central corneal thickness (CCT), anterior chamber depth (ACD), lens thickness (LT), pupil size (PS), and mean keratometric value (K-mean) were measured. Results: Linear mixed-effects models showed significant effects of diagnosis on CCT (β = 182.39, p < 0.001), CD (β = −0.55, p = 0.02), and K-mean (β = −1.10, p = 0.03), while axial length was associated with gender (β = −0.90, p = 0.03). Mann–Whitney testing showed no interocular asymmetry (all p ≥ 0.07; η² ≤ 0.04) overall. Conclusions: PAX6-related congenital aniridia eyes are associated with increased CCT and reduced CD, and K-mean, while AL appears to be mainly influenced by gender. The absence of marked interocular asymmetry suggests relatively symmetrical bilateral involvement. These differences should be considered in corneal and lens surgery planning.

Bevezetés: Az aniridia ritka, veleszületett panocularis betegség, mely a látóélesség különböző mértékű csökkenésével jár. Célkitűzés: Veleszületett aniridiás betegek látáskárosodásukkal kapcsolatos tapasztalatainak felmérése Magyarországon egy, az ANIRIDIA-NET által készített kérdőív segítségével. Betegek és módszer: A vizsgálatba a Semmelweis Egyetem Szemészeti Klinikáján 2005. október és 2022. május között congenitalis aniridia diagnózisával vizsgált vagy kezelt betegeket válogattuk be. A betegek az ANIRIDIA-NET 20 pontból álló kérdőívének magyar nyelvű változatát töltötték ki a segítségünkkel. A kérdőív kitért a demográfiai adatokra, a betegség okozta leggyakoribb panaszokra, a különböző élethelyzetekben tapasztalt, gyengénlátás okozta nehézségekre, illetve gyengénlátó-segédeszközök használatának gyakoriságára. Eredmények: A kérdőívet 33 személy (17 nő [51,5%] és 16 férfi [48,5%]), 16 (48,5%) gyermek és 17 (51,5%) felnőtt töltötte ki, életkoruk 25,69 ± 17,49 év (5–59 év) volt. Mindennapi gyakorisággal fényérzékenységet 27 fő (81,8%), szemszárazságot 5 fő (15,2%), könnyezést 4 fő (12,1%), ingadozó látást 3 fő (9,1%), szemfájdalmat 2 fő (6,1%) említett. A megkérdezettek többsége úgy nyilatkozott, hogy a személyes kommunikáció az iskolatársakkal (16 fő [48,5%]), illetve munkahelyi kollégákkal (11 fő [33,3%]) soha nem okoz nehézséget a látássérülésük miatt. Soha nem tartott igényt segítségre 29 fő (87,9%) az otthoni napi rutinban, 24 fő (72,7%) iskolába/munkába jutáshoz, 17 fő (51,5%) különböző tevékenységekben való részvételhez. Soha nem használt gyengénlátó-segédeszközt 29 fő (87,8%) a kommunikációnál, 23 fő (69,7%) utazásnál, 20 fő (60,6%) társadalmi tevékenységekben való részvételnél, 18 fő (54,5%) tanulás/munka során. Következtetés: Noha az aniridia csökkent látóélességgel jár, a congenitalis aniridiás személyek többsége, különösen gyermekkorban, szemészeti panaszai ellenére nehézség nélkül éli meg a személyes kommunikációt és a különféle élethelyzeteket. A gyengénlátó-segédeszközök fontos segítséget jelenthetnek számukra felnőttkorukra, illetve az életkor előrehaladtával. Orv Hetil. 2023; 164(34): 1342–1349.

Purpose: To explore the emotional and social burden of congenital aniridia in patients and caregivers through narrative medicine. Methods: Patients with congenital aniridia and their caregivers were enrolled in a multicentric observational study. Sociodemographic data and personal narratives were collected through interviews or written accounts. A qualitative analysis was conducted and overarching themes identified. Results: A total of 57 narratives were collected (31 patients, 27 caregivers). Participants reported visiting an average of 5.1 ± 5.9 healthcare facilities over their lifetime. Aniridia impacted work or school life in 39% of patients and 58% of caregivers. Most narratives focused on the lived experience of illness (95% patients, 81% caregivers) or on social perception (48% and 46%), rather than on clinical aspects (10% and 23%). Adaptation to the disease was mainly stable or progressive among adults. Emerging themes included independence, feeling misunderstood, and bullying. Caregivers emphasized the lack of specialized centers, standardized protocols, adequately trained professionals, psychological and practical support, and the lack of humanity among doctors. Conclusions: Congenital aniridia leads to progressive visual impairment with significant emotional and social consequences. Narrative medicine offers valuable insight into patients’ and caregivers’ lived experiences, highlighting unmet needs and concerns often overlooked in conventional clinical practice.

PAX6 haploinsufficiency-related congenital aniridia is frequently associated with ocular surface disease, including meibomian gland dysfunction (MGD), dry eye, limbal stem cell deficiency (LSCD), aniridia-associated keratopathy (AAK), and inflammation. This study measured ocular surface temperature (OST) at the corneal center and four paracentral points (2 mm from center) in patients with congenital aniridia and examined factors influencing OST. Forty-five eyes from 26 aniridia patients (55.6% female; 26.29 ± 17.78 years) with PAX6 pathogenic variants and 47 eyes from 25 controls (68.1% female; 24.81 ± 4.73 years; p = 0.1639) were included. Body temperature, OSDI, and OST (TG-1000) were recorded; clinical assessment evaluated MGD, LSCD, AAK, iris malformation, epithelial defects, Salzmann nodules, glaucoma and previous ocular surgery. Body temperature and OSDI did not differ in aniridia and controls (p ≥ 0.606). LSCD was mainly Grade 2 (46.7%) or Grade 4 (40.0%), and AAK Grade 1 (33.3%) or Grade 2 (31.1%). MGD affected 51.1%, Salzmann nodules 22.2%, epithelial defects 2.2%, glaucoma 60.0%, and previous ocular surgery 35.5%. Superior OST was higher in aniridia (34.98 ± 0.55 °C vs. 34.75 ± 0.47 °C; p = 0.012). Exploratory univariate analyses identified that higher AAK grade correlated with lower inferior OST (p = 0.030), iris malformation with reduced central/paracentral OST (p ≤ 0.029), and Salzmann nodules with lower OST overall (p ≤ 0.011). However, in a multivariate model, age, Salzmann nodular degeneration, and prior ocular surgery emerged as key determinants of OST. OST may serve as a noninvasive biomarker in congenital aniridia.