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Submitted: 23 September 2026 Posted: 24 September 2026 You are already at the latest version Background: Parents of children with differences of sex development (DSD) face diagnostic uncertainty, complex decision-making, and concerns regarding long-term psychosocial outcomes. While research has examined parental experiences surrounding diagnosis, less is known about parenting across developmental stages.
1 INTRODUCTION Congenital aniridia (OMIM #106210) is a rare disease (National Organization for Rare Disorders, 2021; Orphanet, 2022) with a reported prevalence varying from 1:40 000–1:76 000 in Scandinavia (Landsend et al., 2021). Aniridia is inherited in an autosomal dominant pattern and originates in most cases from a mutation in the paired-box gene 6 (PAX6) (Landsend et al., 2018).
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