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TitreInherited Limbal Stem Cell Deficiency as the Presenting Feature of PAX6-Related Aniridia
ButTo describe a rare case of inherited bilateral limbal stem cell deficiency (LSCD) leading to the diagnosis of PAX6-related aniridia despite the presence of a visible iris.
MéthodesA 24-year-old woman with congenital nystagmus, bilateral keratoconus and longstanding low vision was referred for a second opinion regarding corneal neovascularisation and suspected LSCD. She had undergone bilateral epi-off corneal cross-linking in 2016 and subsequently wore scleral lenses. Slit-lamp examination, macular OCT, full-field ERG and targeted PAX6 analysis were performed.
RésultatsVisual acuity was 0.15 OD and 0.08 OS. Slit-lamp examination showed bilateral peripheral corneal neovascularisation, central fibrosis and inferior iris transillumination. Macular OCT demonstrated foveal hypoplasia OD; no reliable scan was obtained OS. Full-field ERG was mildly abnormal but not clearly pathological. Genetic testing identified a de novo heterozygous pathogenic PAX6 frameshift variant, c.1051del, p.(Met351TrpfsTer28), confirming PAX6-related aniridia with aniridia-associated keratopathy.
ConclusionPAX6-related aniridia represents a phenotypic spectrum and does not require complete iris absence. In young patients with bilateral LSCD, congenital nystagmus and unexplained low vision, subtle iris abnormalities and foveal hypoplasia should prompt consideration of PAX6-related disease.
Conflit d'intérêtNon
Auteurs 1
NomTALLAL
InitialesS
InstitutVrije Universiteit Brussel
VilleJette
Auteurs 2
NomBleyen
InitialesI
InstitutAZ Monica
VilleDeurne
Auteurs 3
NomNí Dhubhghaill
InitialesS
InstitutUZ Brussel
VilleJette
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