Most BBS1 variants include missense, deletion/insertion, and splicing mutations and produce typical BBS phenotypes.[31–34] Recent studies indicate that 90% of the BBS patients exhibit retinal degeneration,[35] 90% have abnormal renal development and function,[36] and 72% to 92% are obese.[37] Additionally, 63% to 81% of the patients have polydactyly/deformity,[38] and more than half of the patients exhibit intellectual disability and/or gonadal dysplasia.[39] The fetus in this study exhibited a nonsense BBS1 variant with biallelic loss of function mutation. The gene discussed is BBS1; the disease is retinal degeneration.