未经证实:报告一例视锥细胞营养不良,与常染色体隐性纯合子POC1B基因变异相关,模仿自身免疫性视网膜病变。
未经评估:一名45岁女性出现双眼视力下降的主诉。她的最佳矫正视力是右眼20/32和左眼20/50。前节段和扩张眼底检查无明显变化。光谱域光学相干断层扫描显示了一个模糊的圆顶形椭圆体区和一个影响整个黄斑的熄灭交错区。全场视网膜电图显示视锥反应减少。鉴别诊断包括炎性脉络膜视网膜病变,自身免疫性视网膜病(副肿瘤或非副肿瘤),遗传性视网膜营养不良.在联合的荧光素和吲哚菁绿血管造影中没有观察到明显的发现。副肿瘤自身免疫抗体组没有发现任何东西;然而,醛缩酶,烯醇化酶,丙酮酸激酶M2和甘油醛-3-磷酸脱氢酶抗体在自身免疫性视网膜病变组中呈阳性。排除遗传性视网膜营养不良,应用全外显子组测序(WES).WES鉴定出常染色体隐性纯合子POC1B基因变体(c.680A>G,p.His227Arg)。给予圆锥营养不良诊断。
UNASSIGNED:与POC1B基因变异相关的锥形营养不良可能表现为无可见的眼底异常。应该记住,由于免疫系统长期暴露于自身抗原,在这种遗传性营养不良病例中,视网膜自身抗体可能是阳性的。因此,自身免疫性视网膜病是一种排除性诊断,直到所有其他原因才应诊断,包括遗传性营养不良,已经被排除了.
To report a
case of cone dystrophy, associated with autosomal recessive homozygote POC1B gene variant, mimicking autoimmune retinopathy.
A 45-year-old female presented with a complaint of decreased vision in both eyes. Her best corrected visual acuity was 20/32 in the right eye and 20/50 in the left eye. Anterior segment and dilated fundus examinations were unremarkable. Spectral domain optical coherence tomography showed a subfoveal blurred dome-shaped ellipsoid zone and an extinguished interdigitation zone affecting the entire macula. Full field electroretinography revealed reduced cone responses. The differential diagnosis included inflammatory chorioretinopathies, autoimmune retinopathies (paraneoplastic or nonparaneoplastic), and hereditary retinal dystrophies. No remarkable finding was observed on combined fluorescein and indocyanine green angiographies. Paraneoplastic autoimmune antibody panel revealed nothing; however, aldolase, enolase, pyruvate kinase M2, and glyceraldehyde-3-phosphate dehydrogenase antibodies were positive on autoimmune retinopathy panel. To exclude hereditary retinal dystrophies, whole-exome sequencing (WES) was applied. WES identified an autosomal recessive homozygote POC1B gene variant (c.680A>G, p.His227Arg). Cone dystrophy diagnosis was given.
Cone dystrophy associated with POC1B gene variant may present without visible fundus abnormalities. It should be kept in mind that retinal autoantibodies may be positive in such a hereditary dystrophy
case due to long-term exposure of the immune system to self-antigens. Therefore, autoimmune retinopathy is a diagnosis of exclusion and should not be diagnosed until all other causes, including hereditary dystrophies, have been ruled out.