Abstract： A 65-year-old man complained of 3 years of vision loss in both eyes.Best-corrected visual acuity was FC/20 cm in the right eye(OD)and 0.2 in the left eye(OS);Intraocular pressure was normal in both eyes,which was 12 mmHg OD and 13.1 mmHg OS.Optical coherence tomography(OCT)showed yolk-like deposits in the macula in both eyes;OCT angiography(OCTA)showed no neovascularization.Nerve fiber layer examination showed thinning of the retinal nerve fiber layer in both eyes.Fundus color photographs showed an absence of the upper edge of the optic disc in the right eye with tortuous vessels and pale appearance,and a C/D ratio of 0.6 in both eyes.Visual field examination three years ago showed bilateral temporal hemianopsia.Brain magnetic resonance imaging(MRI)showed the presence of intrasellar occupations.Our initial diagnosis was pituitary tumor.After resection of the pituitary tumor the visual field improved in both eyes,but there was no significant improvement in the subretinal deposits.Whole-exon gene sequencing showed that the patient had a compound heterozygous mutation in the IMPG2 gene.Final diagnosis:pituitary tumor,vitelliform macular dystrophy(Type 5).Discussion and experience:When we encounter a condition that cannot be explained by monism,standardized screening according to clinical signs can help in early diagnosis and treatment.