卵黄样黄斑营养不良合并垂体瘤1例

A case of vitelliform macular dystrophy complicated with pituitary tumor

65岁男性,因“双眼视力下降3年”就诊。最佳矫正视力:右眼FC/20 cm,左眼0.2;双眼眼压正常,右眼12 mmHg,左眼13.1 mmHg。光学相干层析成像(OCT)提示双眼黄斑区卵黄样沉积物。OCT血管成像(OCTA)提示无新生血管。神经纤维层检查显示双眼神经纤维层变薄。眼底彩照结果显示右眼视盘上方盘沿缺失,伴屈膝样血管,视盘颜色苍白,双眼眼底杯盘比(C/D)为0.6。3年前视野检查示双颞侧偏盲。颅脑磁共振成像(MRI)结果显示存在颅内鞍区占位。初步诊断为垂体瘤。垂体瘤切除术后双眼视野有所改善,但视网膜下沉积物无明显好转。全外显子基因测序显示患者存在IMPG2基因复合杂合突变。最终诊断:垂体瘤,卵黄样黄斑营养不良5型。讨论体会:当我们遇到用“一元论”无法解释病情的时候,按照体征进行规范的排查有助于早诊早治。

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.