CBL and retinitis pigmentosa: Our study, for the first time, reported a patient with a characteristic retinal manifestation as the initial and only sign of a pathogenic germline variant in CBL. Pigmentary disturbance of the macula with sightly retinal tapetoretinal degeneration as observed with an ophthalmoscope indicated a diagnosis of retinitis pigmentosa, while special rhagadiforme-like degeneration with a hyper-autofluorescence change found in the far-peripheral retina attracted our attention.