Involvement of ocular, ophthalmological, or visual defects in NLSD-M are not reported to date, suggesting some differences between human and mice lacking PEDF-R and/or, considering our findings in mouse retinal physiology, that a decrease in PEDF-R levels may pose a risk leading to slow progression of retinal degeneration. The gene discussed is PNPLA2; the disease is retinal degeneration.