Pre-medical Program, Seoul National University College of Medicine, Seoul, Korea.
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Hospital, #101, Daehak-ro, Jongno-gu, Seoul, Republic of Korea.
BMC Ophthalmol. 2023 May 17;23(1):221. doi: 10.1186/s12886-023-02968-4.
We present the detailed multimodal imaging analysis in a case of X-linked retinitis pigmentosa (XLRP) exhibiting a markedly asymmetric presentation with a novel RP2 mutation.
A 25-year-old woman complained of decreased vision in the right eye as well as night blindness. Her visual acuity was 20/100 (OD) and 20/20 (OS). Fundus examination revealed bone spicule pigmentation with tessellated changes in the fundus within the posterior pole. Optical coherence tomography (OCT) showed generalized disruption of foveal microstructures in the OD. No abnormal findings were identified, but localized ellipsoid zone band losses were observed on OCT in the OS. Fundus autofluorescence revealed multiple patchy hypo-autofluorescent lesions in the OD and a tapetal-like radial reflex against a dark background in the OS. Fluorescein angiography and OCT angiography revealed diffuse mottled hyperfluorescence with reduced retinal vessel density in the OD and no evidence of vascular compromise in the OS. Goldmann perimetry demonstrated a constricted visual field, and electrophysiological assessment revealed an extinguished rod response and a severely impaired cone response in the OD. Molecular genetic tests via next-generation sequencing revealed the pathogenic variant to be a heterozygous frameshift mutation in RP2 (RP2, p.Glu269Glyfs*7), resulting in premature termination of the protein.
Random X-inactivation may be attributed to interocular differences in the severity of XLRP in female carriers. A novel frameshift mutation in the RP2 gene and a comprehensive phenotypic evaluation in the current study may broaden the spectrum of the disease in XLRP carriers.
我们报告了一例 X 连锁视网膜色素变性（XLRP）病例的详细多模态成像分析，该病例表现出明显的不对称性，携带一种新的 RP2 突变。
一名 25 岁女性主诉右眼视力下降和夜盲。她的视力为 20/100（OD）和 20/20（OS）。眼底检查显示眼底后极部骨赘样色素沉着伴镶嵌样改变。光学相干断层扫描（OCT）显示 OD 黄斑区微观结构普遍破坏。OS 未见异常，但 OCT 显示局部椭圆带丢失。眼底自发荧光显示 OD 有多发性斑片状低自发荧光病变，OS 呈暗背景下的似绒毡层样放射状反射。荧光素血管造影和 OCT 血管造影显示 OD 弥漫性斑驳高荧光，视网膜血管密度降低，OS 未见血管损伤。Goldmann 视野计显示视野狭窄，电生理评估显示 OD 杆反应熄灭，锥反应严重受损。通过下一代测序进行的分子遗传学测试显示，致病变体是 RP2 中的杂合移码突变（RP2，p.Glu269Glyfs*7），导致蛋白提前终止。
随机 X 染色体失活可能是女性携带者中 XLRP 双眼严重程度不同的原因。本研究中 RP2 基因的新型移码突变和全面的表型评估可能拓宽 XLRP 携带者疾病的谱。
