P3H2 and vitreoretinal degeneration: This variant is categorized as pathogenic based on ACMG criteria on PVS1 (Null variant (frame-shift), in gene P3H2, for which loss-of-function is a known mechanism of disease (gene has 11 pathogenic LOF variants and LOF Z-Score = 0.771 is greater than 0.7), associated with Myopia, high, with cataract and vitreoretinal degeneration).