UBAP1L (ubiquitin associated protein 1 like) is a recently identified retinal disease gene encoding a protein with ubiquitin-associated domains that functions in ubiquitin binding and ESCRT I complex-related protein trafficking 1. The protein contains a solenoid of overlapping ubiquitin-associated domains predicted to interact with ubiquitin, though its precise cellular role remains incompletely characterized 2. Biallelic loss-of-function variants in UBAP1L cause autosomal recessive inherited retinal dystrophies (IRDs), predominantly rod-cone and cone-rod dystrophies 12. Pathogenic variants include frameshift mutations, canonical splice variants, and intronic variants creating aberrant splice sites (e.g., c.910-7G>A) 34. UBAP1L is highly expressed in photoreceptors (both rods and cones) and retinal pigment epithelium, explaining the ocular-specific phenotype 14. Clinically, UBAP1L-associated IRD presents with variable age of onset (sometimes fourth decade or later), progressive vision loss, high myopia, and occasional retinal detachment 1. A Ubap1l knockout mouse model recapitulates retinal degeneration with mottled retinal changes, impaired photoreceptor function, and outer segment deformation 4. CRISPR/Cas9-corrected iPSC models derived from affected patients provide tools for studying disease mechanisms and developing therapeutics 5.