Standardized Assessment of Health-Related Quality of Life in Patients with Congenital Aniridia

Abstract

Introduction Congenital aniridia is a rare panocular disorder that is associated with varying degrees of impairment of visual acuity. The COST Action (CA18116) developed a survey (aniridia-net.eu) to assess patient-reported experiences with congenital aniridia and its impacts on vision and daily life. Here, we correlate the survey responses of German patients with congenital aniridia with clinical ophthalmology data acquired at the Homburger Aniridia Center.

Patients and Methods The patients completed the German-language version of a 20-point ANIRIDIA-NET survey. The survey included demographic information, the most common symptoms caused by the disease, difficulties caused by visual impairment in various life situations, and the frequency of using visual aids in daily life. As for clinical data, best-corrected visual acuity (BCVA) as well as corneal, lens, and glaucoma status were collected.

Results A total of 71 participants, 27 (38.0%) children and 44 (61.7%) adults, completed the questionnaire, with an age range of 28.8 ± 20.2 years (6 – 78 years). Among them, 55 (77.4%) reported daily light sensitivity, 34 (47.8%) experienced dry eyes, 17 (23.9%) had fluctuating vision, 11 (15.4%) reported eye pain, and 5 (7.0%) experienced daily watering eyes. Older patients reported significantly more eye complaints than children (p < 0,001). Notably, patients with more advanced aniridia-associated keratopathy (AAK) exhibited a discernibly lower quality of life (ρ = 0.28, p = 0.027). Similarly, cataract surgery early in life was associated with a more pronounced decline in quality of life (ρ = − 0.36, p = 0.002). Thirty-five (49.2%) patients never needed assistance for their commute to school/work, 27 (38.0%) and 22 (30.9%) never needed assistance for their daily routines at home or various social activities, respectively. Regarding the use of visual aids, 39 (24.9%) reported that they always used visual aids at work or school, 24 (33.8%) during social activities, and 32 (45.1%) during free time activities.

Conclusions Although congenital aniridia is associated with reduced visual acuity, the majority of affected individuals, especially during childhood, report that they were able to manage personal communication and various life situations independently and without significant difficulties, despite their eye-related issues. Visual aids serve as crucial support for them during their transition into adulthood and as they age. Symptoms of congenital aniridia subjects, described by the ANIRIDIA-NET survey, correlated well with clinical findings. Therefore, the questionnaire may provide important information for the treating ophthalmologist for follow-up examination of these patients and improvement in their life quality.

Zusammenfassung

Einleitung Kongenitale Aniridie ist eine seltene panokulare Störung, die mit unterschiedlich starken Beeinträchtigungen der Sehschärfe einhergeht. Im Rahmen der COST-Aktion (CA18116) wurde eine Umfrage (aniridia-net.eu) entwickelt, um die Erfahrungen von Patienten mit kongenitaler Aniridie und deren Auswirkungen auf das Sehen und das tägliche Leben zu erfassen. Im Folgenden werden die Antworten deutscher Patienten mit kongenitaler Aniridie mit klinischen ophthalmologischen Daten des Homburger Aniridie-Zentrums in Beziehung gesetzt.

Patienten und Methoden Die Patienten füllten die deutschsprachige Version eines 20 Punkte umfassenden ANIRIDIA-NET-Fragebogens aus. Der Fragebogen umfasste demografische Informationen, die häufigsten durch die Krankheit verursachten Symptome, die durch die Sehbehinderung verursachten Schwierigkeiten in verschiedenen Lebenssituationen und die Häufigkeit der Verwendung von Sehhilfen im täglichen Leben. Was die klinischen Daten betrifft, so wurden die bestkorrigierte Sehschärfe (BCVA) sowie der Hornhaut-, Linsen- und Glaukomstatus erhoben.

Ergebnisse Insgesamt 71 Teilnehmer, 27 (38,0%) Kinder und 44 (61,7%) Erwachsene, füllten den Fragebogen aus, mit einer Altersspanne von 28,8 ± 20,2 Jahren (6 – 78 Jahre). Von ihnen berichteten 55 (77,4%) über tägliche Lichtempfindlichkeit, 34 (47,8%) über trockene Augen, 17 (23,9%) über schwankende Sehkraft, 11 (15,4%) über Augenschmerzen und 5 (7,0%) über täglich tränende Augen. Ältere Patienten berichteten signifikant häufiger über Augenbeschwerden als Kinder (p < 0,001). Vor allem Patienten mit fortgeschrittener Aniridie-assoziierter Keratopathie (AAK) wiesen eine deutlich geringere Lebensqualität auf (ρ = 0,28, p = 0,027). Ebenso war eine Kataraktoperation in einem frühen Lebensalter mit einer stärkeren Verschlechterung der Lebensqualität verbunden (ρ = − 0,36, p = 0,002). Fünfunddreißig (49,2%) Patienten brauchten nie Hilfe auf dem Weg zur Schule/Arbeit, 27 (38,0%) und 22 (30,9%) brauchten nie Hilfe bei ihren täglichen Routinen zu Hause bzw. bei verschiedenen sozialen Aktivitäten. Was die Verwendung von Sehhilfen betrifft, so gaben 39 (24,9%) an, dass sie bei der Arbeit oder in der Schule immer Sehhilfen verwendeten, 24 (33,8%) bei sozialen Aktivitäten und 32 (45,1%) bei Freizeitaktivitäten.

Schlussfolgerungen Obwohl die kongenitale Aniridie mit einer verminderten Sehschärfe einhergeht, berichtet die Mehrheit der Betroffenen, insbesondere in der Kindheit, dass sie trotz ihrer augenbedingten Probleme in der Lage waren, die persönliche Kommunikation und verschiedene Lebenssituationen selbstständig und ohne größere Schwierigkeiten zu bewältigen. Sehhilfen sind für sie eine wichtige Unterstützung beim Übergang ins Erwachsenenalter und im Alter. Die in der ANIRIDIA-NET-Umfrage beschriebenen Symptome von Personen mit kongenitaler Aniridie korrelierten gut mit den klinischen Befunden. Daher kann der Fragebogen dem behandelnden Augenarzt wichtige Informationen für die Nachuntersuchung dieser Patienten und die Verbesserung ihrer Lebensqualität liefern.

Conclusion

Already known:

• Patients with congenital aniridia suffer from significant and progressive visual impairment and require complex treatments during their life to maintain their remaining vision.

Newly described:

• Despite their visual challenges, self-reported QoL among aniridia patients in Germany was generally good, particularly in children, possibly due to early adaptation. Onset of progressive ocular pathology and vision loss typically starts to appear in early adulthood.

• Cataract surgery early in life as well AAK and frequent complications were associated with a diminished QoL.

• The ANIRIDIA-NET survey effectively correlated symptoms of the patients with clinical findings, providing valuable support for follow-up examinations.

Keywords

congenital aniridia - visual impairment - questionnaire - quality of life (QoL)

Schlüsselwörter

kongenitale Aniridie - Sehbehinderung - Fragebogen - Lebensqualität

Publikationsverlauf

Eingereicht: 14. Februar 2024

Angenommen: 29. Oktober 2024

Artikel online veröffentlicht:
18. Dezember 2024

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