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New research · Ophthalmology
Orphanet journal of rare diseases · 23h
StudyOrphanet journal of rare diseases · 2026

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

Renáta Schoffer, Christina Grupcheva, Ivana Kildsgaard … Neil Lagali
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OphthalmologyStudy

Photophobia is the most common daily symptom in congenital aniridia.

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

Renáta Schoffer … Neil Lagali
Orphanet journal of rare diseases · 2026
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.

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.

n = 295 survey respondents
Results

of respondents reported daily light sensitivity

83%
Photophobia
42%
Dryness
34%
Unstable vision
20%
Ocular pain
More results

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.

More results

59% required help at home and 64% outside the home to accomplish daily living tasks, with children requiring help more frequently than adults.

“
Conclusion · 1 of 2

Congenital aniridia is characterized by multiple ocular symptoms experienced frequently, affecting daily living in all age groups.

Conclusion · 2 of 2

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.

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