Choroideremia presenting as vision loss secondary to choroidal neovascularization.

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2024-04-01 Epub Date: 2023-08-14 DOI:10.1080/13816810.2023.2245117
Landon J Rohowetz, Anne L Kunkler, Jesse D Sengillo, Thomas A Lazzarini, Byron L Lam, Audina M Berrocal
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Abstract

Background: Choroidal neovascularization (CNV) is a rare complication of choroideremia that occurs secondary to relative atrophy of the retinal pigment epithelium and eventual rupture of Bruch's membrane. The ideal management of CNV in choroideremia is unclear.

Materials and methods: Case report.

Observations: A 14-year-old male with no known ocular history presented to the eye emergency department complaining of a central scotoma in the right eye for 4 days. He had no past medical history and family history was unremarkable for known ocular disease. Visual acuity was 20/70 in the right eye and 20/30 in the left eye. Posterior segment exam revealed chorioretinal atrophy extending from the outer macula to the midperiphery in both eyes. There was CNV with associated subretinal hemorrhage in the right eye. Optical coherence tomography demonstrated the presence of CNV with subretinal fluid in the right eye and parafoveal outer retinal atrophy in both eyes. Genetic testing revealed a hemizygous exon 2 deletion on the CHM gene, pathogenic for choroideremia. The patient received a total of 3 injections 4 weeks apart followed by 1 injection 6 weeks later with resolution of the subretinal hemorrhage and reduction in CNV size with improvement in visual acuity to 20/20 at last follow-up exam.

Conclusions and importance: Choroidal neovascularization is a rare cause of central vision loss in patients with choroideremia. In this report, we demonstrate a good functional and anatomic response to intravitreal bevacizumab in a 14-year-old patient with undiagnosed choroideremia who presented with CNV-induced central vision loss.

脉络膜新生血管继发视力下降的脉络膜血症。
背景:脉络膜新生血管(CNV)是脉络膜血症的一种罕见并发症,继发于视网膜色素上皮的相对萎缩和布鲁氏膜的最终破裂。脉络膜血症 CNV 的理想治疗方法尚不明确:病例报告:观察结果:一名 14 岁男性患者因右眼中心性黑影 4 天,主诉到眼科急诊就诊。他没有既往病史,家族史中也没有已知的眼部疾病。右眼视力为 20/70,左眼视力为 20/30。后段检查显示,两只眼睛的脉络膜视网膜萎缩从黄斑外侧延伸至中周。右眼出现 CNV,并伴有视网膜下出血。光学相干断层扫描显示,右眼存在伴有视网膜下积液的 CNV,双眼均存在视网膜旁外层视网膜萎缩。基因检测显示,CHM 基因第 2 外显子半杂合子缺失,是脉络膜血症的致病基因。患者共接受了 3 次注射,每次间隔 4 周,6 周后再注射 1 次,结果视网膜下出血消退,CNV 面积缩小,最后一次随访检查时视力提高到 20/20:脉络膜新生血管是脉络膜血症患者中心视力丧失的罕见原因。在本报告中,我们展示了一名未确诊脉络膜血症的 14 岁患者对玻璃体内贝伐单抗的良好功能和解剖反应,该患者出现了 CNV 引起的中心视力下降。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Ophthalmic Genetics
Ophthalmic Genetics 医学-眼科学
CiteScore
2.40
自引率
8.30%
发文量
126
审稿时长
>12 weeks
期刊介绍: Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
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