Hull S, Arno G, Ostergaard P, et al. - Since familial exudative vitreoretinopathy (FEVR) is an uncommon finding in individuals with genetic forms of microcephaly, researchers conducted this retrospective case series to documents the detailed phenotype and to expands the range of genetic heterogeneity. For this investigation, 12 individuals (10 families) with a diagnosis of FEVR and microcephaly have been ascertained from pediatric genetic eye clinics and had full clinical evaluation including retinal imaging. Findings revealed that there was reduced vision and nystagmus in all individuals. In 7 out of 10 families investigated, including a previously unrecognized association with LRP5, the molecular diagnosis was achieved. Variants were found in 7 out of 10 families in LRP5, KIF11, and TUBGCP6. After previous negative Sanger sequencing of the causative gene, whole-genome sequencing allowed molecular diagnosis in 3 families. This enabled targeted investigations and accurate family counseling for patient-specific care.