The impact of vision impairment on living with congenital aniridia: a pan-European survey study

Abstract Background Congenital aniridia is a rare but severe eye disease stemming from genetic variants in PAX6 or related genes and affecting all eye structures, causing lifelong disability. Awareness of the disease is poor even among ophthalmology professionals, and how the ocular pathology impacts quality of life for patients is largely unknown. To improve healthcare for this group, a patient perspective is needed. It was therefore the aim of this study to survey subjects with congenital aniridia from across Europe to determine the impact of vision impairment on their daily lives. Methods A purpose-developed survey instrument was created and validated by multiple stakeholders and subsequently distributed to individuals and families with congenital aniridia across 15 European countries through European and national aniridia patient associations and the treating ophthalmologists. Survey responses were collected using an online application available in 13 languages or from printed copies. Responses were translated into English and compiled for descriptive and quantitative statistical comparisons. Results Of 295 survey respondents (age range 0–79, 58.3% female), photophobia was the most prevalent symptom experienced daily by 83%, followed by 42% experiencing daily dryness, 34% reporting unstable vision daily and 20% experiencing daily ocular pain. 51% of those aged 19 years or younger experienced ocular pain once or more per week, increasing to 61% in adults aged 20 years or older. 93% used a smartphone, of which 55% did not require specialized assistive technology for its use. Most respondents had difficulty recognizing faces, could not read facial expressions, experienced difficulties at school or in the workplace and in social settings, reporting bullying, misunderstandings, social exclusion and isolation. 59% required help at home and 64% outside the home to accomplish daily living tasks, with children requiring help more frequently than adults. Conclusions Congenital aniridia is characterized by multiple ocular symptoms experienced frequently, affecting daily living in all age groups. Areas to be addressed include provision of adequate symptom relief and improving inclusion, independence, and quality of life for this rare patient group, particularly for children.