Article
Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM).
Ophthalmic genetics - 1 Oct 2025
Hensman Jonathan, van Schooneveld Mary J, Diederen Roselie M H, Plomp Astrid S, de Muijnck Cansu, Ten Brink Jacoline B, Florijn Ralph J, de Baere Elfride, van Genderen Maria M, Boon Camiel J F
Abstract excerpt
PURPOSE: To describe a family with a previously unreported maculopathy across three generations. METHODS: This retrospective chart study describes three patients from three generations of a non-consanguineous Dutch family, with a distinctive maculopathy. All three patients underwent extensive ophthalmic examinations and multimodal imaging including best-corrected visual acuity, fundus photography, spectral-domain...
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