MMACHC and metabolic disease: The 2 variants identified in genes associated with retinal degeneration include a pathogenic nonsense variant in the MMACHC gene, c.331C > T (p.R111*), associated with recessive metabolic disease and a variant of unknown clinical significance in KIF11, c.2923-7_2923-5delCTT, which is associated with familial exudative vitreoretinopathy and has also been reported to be associated with pigmentary retinopathy.