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

Publication History

Received: 14 February 2024

Accepted: 29 October 2024

Article published online:
18 December 2024

• References

• 1 Landsend ECS, Lagali N, Utheim TP. Congenital aniridia – A comprehensive review of clinical features and therapeutic approaches. Surv Ophthalmol 2021; 66: 1031-1050
• 2 Käsmann-Kellner B, Seitz B. Aniridiesyndrom. Ophthalmologe 2014; 111: 1145-1156
• 3 Latta L, Figueiredo FC, Ashery-Padan R. et al. Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions. Ocul Surf 2021; 22: 245-266
• 4 Calvão-Pires P, Santos-Silva R, Falcão-Reis F. et al. Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis. Int Sch Res Notices 2014; 2014: 1-10
• 5 Lee H, Khan R, OʼKeefe M. Aniridia: current pathology and management. Acta Ophthalmol 2008; 86: 708-715
• 6 Pedersen HR, Hagen LA, Landsend ECS. et al. Color Vision in Aniridia. Invest Ophthalmol Vis Sci 2018; 59: 2142
• 7 Käsmann-Kellner B, Seitz B. Kongenitale Aniridie oder PAX6-Syndrom?. Ophthalmologe 2014; 111: 1144
• 8 Kuyk T, Liu L, Elliott JL. et al. Health-related quality of life following blind rehabilitation. Qual Life Res 2008; 17: 497-507
• 9 Patrick DL, Erickson P. Assessing health-related quality of life for clinical decision-making. Springer ebooks; 1993: 11-63
• 10 Daruich A, Duncan M, Robert MP. et al. Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches. Prog Retin Eye 2023; 95: 101133
• 11 Lagali N, Wowra B, Fries FN. et al. Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations. Ocul Surf 2020; 18: 130-140
• 12 Gothwal VK, Mandal AK. Quality of Life and Life Satisfaction in Young Adults with Primary Congenital Glaucoma. Ophthalmol Glaucoma 2021; 4: 312-321
• 13 Gu S, Hu Y, Zhao Y, Chen L. et al. A Retrospective Study on the Eye-Related Quality of Life, Functional Vision, and Their Determinants Among Children Following Congenital and Developmental Cataracts Surgery and Its Impact on Their Families Using the PedEyeQ. Front Public Health 2022; 10: 788384
• 14 Karadeniz Ugurlu S, Kocakaya Altundal AE. et al. Comparison of vision-related quality of life in primary open-angle glaucoma and dry-type age-related macular degeneration. Eye (Lond) 2017; 31: 395-405
• 15 Inan S, Cetinkaya E, Duman R. et al. Quality of life among patients with age-related severe macular degeneration assessed using the NEI-VFQ, HADS-A, HADS-D and SF-36 tests. A cross-sectional study. Sao Paulo Med J 2019; 137: 25-32
• 16 Cicinelli MV, Buchan JC, Nicholson M. et al. Cataracts. Lancet 2023; 401: 377-389
• 17 Labiris G, Giarmoukakis A, Sideroudi H. et al. Impact of keratoconus, cross-linking and cross-linking combined with photorefractive keratectomy on self-reported quality of life. Cornea 2012; 31: 734-739
• 18 Kennedy RH, Bourne WM, Dyer JA. A 48-year clinical and epidemiologic study of keratoconus. Am J Ophthalmol 1986; 101: 267-273
• 19 Sideroudi H, Flockerzi E, Jullien T. et al. Risk Factors for Keratoconus Progression in Children Compared with Young and Middle-aged Adults. Klin Monbl Augenheilkd 2023; 240: 751-760
• 20 Kymes SM, Walline JJ, Zadnik K. et al. Changes in the quality-of-life of people with keratoconus. Am J Ophthalmol 2008; 145: 611-617.e1
• 21 Choi SU, Chun YS, Lee JK. et al. Comparison of vision-related quality of life and mental health between congenital and acquired low-vision patients. Eye (Lond) 2019; 33: 1540-1546
• 22 Fries FN, Moslemani K, Utheim TP. et al. Early ocular surface and tear film status in congenital aniridia indicates a supportive treatment window. Br J Ophthalmol 2024; 108: 30-36
• 23 Brennan M, Cardinali G. The use of preexisting and novel coping strategies in adapting to age-related vision loss. Gerontologist 2000; 40: 327-334
• 24 Brennan M, Su YP, Horowitz A. Longitudinal associations between dual sensory impairment and everyday competence among older adults. J Rehabil Res Dev 2006; 43: 777-792
• 25 Brown RL, Barrett AE. Visual impairment and quality of life among older adults: an examination of explanations for the relationship. J Gerontol B Psychol Sci Soc Sci 2011; 66: 364-373
• 26 Agarwal R, Tripathi A. Current Modalities for Low Vision Rehabilitation. Cureus 2021; 13: e16561
• 27 Perrault MA, Lauer G, Voss S. et al. Visual Impairment and Low Vision Aids–A Comparison between Children and Adults. J Pers Med 2023; 13: 1608
• 28 Jacobson A, Mian SI, Bohnsack BL. Clinical outcomes and visual prognostic factors in congenital aniridia. BMC Ophthalmol 2022; 22: 235
• 29 Lennie P, Van Hemel SB. eds. Visual Impairments. Determining Eligibility for Social Security Benefits. Washington, D.C.: National Academies Press; 2002
• 30 Huurre TM, Aro HM. Psychosocial development among adolescents with visual impairment. Eur Child Adolesc Psychiatry 1998; 7: 73-78
• 31 Wang CW, Chan CLW, Chi I. Overview of Quality of Life Research in Older People with Visual Impairment. Adv Aging Res 2014; 3: 79-94
• 32 Elsman EBM, Al Baaj M, van Rens GHMB. et al. Interventions to improve functioning, participation, and quality of life in children with visual impairment: a systematic review. Surv Ophthalmol 2019; 64: 512-557
• 33 Fries FN, Náray A, Munteanu C. et al. The Effect of Glaucoma Treatment on Aniridia-Associated Keratopathy (AAK) – A Report from the Homburg Register for Congenital Aniridia. Klin Monbl Augenheilkd 2023;
• 34 Boden KT, Szurman P. Cataract Surgery in Aniridia. Cataract Surgery. Essentials in Ophthalmology. Cham: Springer; 2022: 283-290
• 35 Romano D, Bremond-Gignac D, Barbany M. et al. Artificial iris implantation in congenital aniridia: A systematic review. Surv Ophthalmol 2023; 68: 794-808
• 36 Mayer CS, Baur ID, Storr J. et al. Bilateral Artificial Iris implantation in patients with bilateral iris defects. Am J Ophthalmol Case Rep 2021; 22: 101108
• 37 Viberg A, Vicente A, Samolov B. et al. Corneal transplantation in aniridia‐related keratopathy with a two‐year follow‐up period, an uncommon disease with precarious course. Acta Ophthalmol 2023; 101: 222-228
• 38 Muñoz-Negrete FJ, Teus MA. et al. Aniridic glaucoma: An update. Arch Soc Esp Oftalmol (Engl Ed) 2021; 96 (Suppl. 1) S52-S59
• 39 van Velthoven AJH, Utheim TP, Notara M. et al. Future directions in managing aniridia-associated keratopathy. Surv Ophthalmol 2023; 68: 940-956
• 40 Csidey M, Grupcheva C, Stachon T. et al. Congenital aniridia patientsʼ experience on their visual impairment in Hungary. Orv Hetil 2023; 164: 1342-1349