Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM)

To describe a family with a previously unreported maculopathy across three generations. 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 optical coherence tomography, fundus autofluorescence imaging, and full-field electroretinography (ffERG). Genetic analyses included next-generation sequencing, whole-exome sequencing, and single nucleotide polymorphism arrays. Three affected family members had a history of low visual acuity and congenital nystagmus, in combination with sharply demarcated areas of chorioretinal atrophy in the macula, which developed from early childhood. The two adult patients who underwent ffERG had cone and rod responses within normal limits, suggesting a central condition with a normally functioning retina extending beyond the lesions. No (likely) pathogenic variants in the known disease associated genes were found through extensive genetic analysis. Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM) is a striking hereditary maculopathy that leads to progressive central vision loss. Future studies may provide additional insights into the genetic basis and underlying mechanisms of this remarkable clinical picture.