Del Pozo-Valero, Martin-Merida I, Jimenez-Rolando B, et al. - Researchers conducted this case-case study to characterize the genetic and phenotypic characteristics of a cohort of individuals with PROM1 variants. Using classical molecular techniques and next-generation sequencing approaches, a cohort of 2,216 families with inherited retinal dystrophies were screened. To determine age of onset of symptoms and the results of ophthalmoscopy, best-corrected visual acuity, full-field electroretinography, and visual field studies, the clinical histories of 25 patients have been reviewed. The authors identified PROM1 variants in 32 families. In 18 autosomal recessive and 4 autosomal dominant families, disease-causing variants were found. The largest cohort of patients with PROM1 variants were reported, explaining in detail the phenotype in 25 of them. Interestingly, in all patients, macular involvement is a common feature in the variability of phenotypes related to this gene.