Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie
Claudia YahalomSamer Khateb

Abstract

Aniridia is a rare panocular disorder caused by mutations in the PAX6 gene and characterized mainly by iris hypoplasia. Here, we present six families with a history of low vision/blindness with a previously undiagnosed mild aniridia phenotype with minimal iris changes. Retrospective case series of patients diagnosed with a subtle aniridia phenotype characterized by minimal iris abnormalities, foveal hypoplasia, and an identified mutation in PAX6. Data collection from patient's charts included ocular examination findings, visual acuity, refraction, and clinical pictures when available. Genetic analysis was performed by isolation of genomic DNA from peripheral blood. The main outcome was the identification of patients with mild aniridia harboring a PAX6 mutation. In all six families, the phenotype included minimal corectopia and foveal hypoplasia; nystagmus was present in 10 out of 11 patients. A PAX6 mutation was identified in all six families; three of these mutations were identified previously, and three are novel mutations. All the mutations are located within the conventional 128-residue paired domain of PAX6. A mild form of aniridia should be considered in the differential diagnosis of patients with low vision associated wi...Continue Reading

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Citations

Oct 2, 2019·Investigative Ophthalmology & Visual Science·Erlend C S LandsendTor P Utheim
Nov 9, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kathleen A WilliamsonDavid R FitzPatrick
Nov 6, 2020·The British Journal of Ophthalmology·Mervyn G ThomasIrene Gottlob
Feb 18, 2021·Ophthalmic Genetics·Miriam EhrenbergClaudia Yahalom
May 27, 2021·Documenta Ophthalmologica. Advances in Ophthalmology·Takaaki HayashiTadashi Nakano
Aug 21, 2021·Investigative Ophthalmology & Visual Science·Yi JiangQingjiong Zhang

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