SLC37A3-associated retinitis pigmentosa: a case report of clinical features and three-year follow up.

IF 2.6 4区 医学 Q2 OPHTHALMOLOGY
Maximilian D Kong, Johnathan A Bailey, Abdhel Exinor, Chanakarn Piamjitchol, Aykut Demirkol, Stephen H Tsang
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Abstract

Purpose: To describe a case of SLC37A3-associated retinitis pigmentosa (RP) and associated imaging and electroretinography findings.

Methods: The patient was evaluated at Columbia University Irving Medical Center using a comprehensive multimodal imaging protocol that included color fundus photography, fundus autofluorescence (FAF), and spectral-domain optical coherence tomography. Functional assessments were conducted using full-field electroretinography (ERG), following the ISCEV standard protocols to ensure consistent and reproducible measurements of photoreceptor activity.

Results: A 58-year-old male presented with night blindness beginning in early adulthood. Family history was positive for consanguinity. Dilated fundus exam revealed mild optic disc pallor, small perivenous hyperpigmentation greater nasally, and spared foveal islands in both eyes. FAF demonstrated a hyperautofluorescent ring around the macula in a bull's eye pattern and hypoautofluorescent lesions along the arcades and nasally. ERG results supported a diagnosis of rod-cone dystrophy. Initial genetic panel testing and whole exome sequencing were inconclusive, but whole genome sequencing identified homozygous mutations in the SLC37A3 gene.

Discussion: This report expands upon the sparse clinical data on SLC37A3-associated RP and supports the observation that a nasal predominance of retinal pigment may be a distinguishing clinical feature. Additionally, this case underscores the diagnostic value of whole-genome sequencing, especially when initial targeted genetic panels or whole-exome sequencing yield negative results. The metabolic role of SLC37A3, potentially linked to intracellular glucose transport, suggests a novel pathway in RP pathogenesis that warrants further study. Advances in gene-specific natural history characterization will be critical as gene-targeted therapies evolve, particularly for rare genetic forms of RP such as this case.

slc37a3相关性视网膜色素变性1例临床特征及3年随访
目的:描述1例slc37a3相关性视网膜色素变性(RP)及其影像学和视网膜电图表现。方法:患者在哥伦比亚大学欧文医学中心使用综合多模态成像方案进行评估,包括彩色眼底摄影、眼底自身荧光(FAF)和光谱域光学相干断层扫描。使用全视场视网膜电图(ERG)进行功能评估,遵循ISCEV标准方案,以确保光感受器活性测量的一致性和可重复性。结果:一名58岁男性在成年早期开始出现夜盲症。家族史呈阳性。眼底扩张检查发现轻度视盘苍白,大鼻静脉周围有少量色素沉着,双眼未见中央凹岛。FAF表现为黄斑周围呈牛眼型高自荧光环,而沿拱廊和鼻部呈低自荧光病变。ERG结果支持棒锥营养不良的诊断。最初的基因面板检测和全外显子组测序尚无定论,但全基因组测序确定了SLC37A3基因的纯合突变。讨论:本报告扩展了slc37a3相关RP的稀疏临床数据,并支持鼻腔视网膜色素优势可能是一个显着的临床特征。此外,该病例强调了全基因组测序的诊断价值,特别是当最初的靶向遗传面板或全外显子组测序结果为阴性时。SLC37A3的代谢作用可能与细胞内葡萄糖转运有关,提示RP发病的新途径值得进一步研究。随着基因靶向治疗的发展,基因特异性自然史表征的进展将是至关重要的,特别是对于像本病例这样的罕见遗传形式的RP。
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来源期刊
Documenta Ophthalmologica
Documenta Ophthalmologica 医学-眼科学
CiteScore
3.50
自引率
21.40%
发文量
46
审稿时长
>12 weeks
期刊介绍: Documenta Ophthalmologica is an official publication of the International Society for Clinical Electrophysiology of Vision. The purpose of the journal is to promote the understanding and application of clinical electrophysiology of vision. Documenta Ophthalmologica will publish reviews, research articles, technical notes, brief reports and case studies which inform the readers about basic and clinical sciences related to visual electrodiagnosis and means to improve diagnosis and clinical management of patients using visual electrophysiology. Studies may involve animals or humans. In either case appropriate care must be taken to follow the Declaration of Helsinki for human subject or appropriate humane standards of animal care (e.g., the ARVO standards on Animal Care and Use).
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