Elhusseiny Abdelrahman M, Haseeb Abid, Elnahry Ayman G
Department of Ophthalmology, Harvey and Bernice Jones Eye Institute, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, USA.
Eur J Ophthalmol. 2023 May;33(3):NP1-NP4. doi: 10.1177/11206721221085868. Epub 2022 Mar 4.
Gyrate atrophy of the choroid and retina (GA) is a rare genetic ophthalmologic condition which primarily manifests in childhood. It is characterized by hyperornithinemia and progressive chorioretinal atrophy. Patients may develop macular intraretinal cystic spaces (ICS) for which various treatment modalities have been reported. We report a patient who failed to demonstrate visual or anatomic improvement following multiple treatments for GA-associated ICS but showed improvement following prolonged dietary modification and vitamin supplementation.
A 6-year-old male patient presented with previously undiagnosed GA associated with ICS. He received 6 consecutive monthly intravitreal bevacizumab injections as well as topical nepafenac and dorzolamide for treatment of ICS without significant change detected by optical coherence tomography (OCT) following treatment. He was also maintained on an arginine restricted diet with vitamin B6 supplementation. Over the course of the ensuing year, the patient was lost to follow-up due to the coronavirus disease 2019 pandemic. When he returned, his vision was stable, and OCT showed regression of the ICS. His mother reported that he had continued only on dietary restriction and vitamin B6 supplementation with no other medications or interventions. Plasma ornithine level measurement confirmed dietary compliance. Further follow-up showed continued stabilization of the condition.
In addition to retarding progressive chorioretinal atrophy, prolonged dietary modifications may result in improvement of treatment-resistant GA-associated ICS. Parents' education on the value of dietary modifications for patients with GA is highly recommended.
回旋状脉络膜视网膜萎缩（GA）是一种罕见的遗传性眼科疾病，主要在儿童期发病。其特征为高鸟氨酸血症和进行性脉络膜视网膜萎缩。患者可能会出现黄斑部视网膜内囊性间隙（ICS），针对该病症已有多种治疗方式的报道。我们报告了一名患者，其在接受多次针对GA相关ICS的治疗后，视力和解剖结构均未改善，但在长期饮食调整和维生素补充后病情出现好转。
一名6岁男性患者被诊断患有此前未确诊的GA并伴有ICS。他连续6个月每月接受一次玻璃体内注射贝伐单抗治疗，同时局部使用萘非那酮和多佐胺治疗ICS，但治疗后光学相干断层扫描（OCT）未检测到明显变化。他还维持了限制精氨酸饮食并补充维生素B6。在随后的一年中，由于2019年冠状病毒病大流行，该患者失访。当他再次就诊时，视力稳定，OCT显示ICS有所消退。他的母亲报告说，他仅继续进行饮食限制和补充维生素B6，未使用其他药物或进行其他干预。血浆鸟氨酸水平测量证实其饮食依从性良好。进一步随访显示病情持续稳定。
除了延缓脉络膜视网膜萎缩的进展外，长期的饮食调整可能会改善对治疗耐药的GA相关ICS。强烈建议对GA患者的父母进行饮食调整重要性的教育。
