Seela Josephine R, Moon Jade Y, Montezuma Sandra R
University of Minnesota Medical School, Twin Cities, Minneapolis, MN, USA.
Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, MN, USA.
J Vitreoretin Dis. 2025 May 10:24741264251340108. doi: 10.1177/24741264251340108.
To describe a patient presenting in adulthood with isolated retinopathy found to have mucopolysaccharidosis type IIIA. A single case was evaluated. A 36-year-old man presented with 5 years of worsening peripheral vision and night vision. The initial examination and testing raised concern for rod-cone dystrophy. Genetic testing with an Invitae Inherited Retinal Disorders Panel showed 2 variants of , which is associated with mucopolysaccharidosis type IIIA. Laboratory testing showed low heparan-N-sulfatase levels and elevated heparan sulfate levels. These results and a thorough review of the literature support a diagnosis of mild attenuated non-neuronopathic mucopolysaccharidosis type IIIA. This case highlights the necessity for collaboration with genetic counselors and the value of a provider's clinical acumen in interpreting genetic testing results. Furthermore, the importance of considering mucopolysaccharidosis type IIIA when adult patients present with new-onset isolated retinitis pigmentosa is emphasized.
描述一名成年患者，其表现为孤立性视网膜病变，经诊断患有IIIA型黏多糖贮积症。对一例病例进行了评估。一名36岁男性，出现外周视力和夜间视力恶化5年。初步检查和测试引发了对视杆-视锥营养不良的担忧。使用Invitae遗传性视网膜疾病检测板进行的基因检测显示了两个与IIIA型黏多糖贮积症相关的变异。实验室检测显示乙酰肝素-N-硫酸酯酶水平低，硫酸乙酰肝素水平升高。这些结果以及对文献的全面回顾支持诊断为轻度非神经元病变型IIIA型黏多糖贮积症。该病例突出了与遗传咨询师合作的必要性以及临床医生在解释基因检测结果方面的临床敏锐性的价值。此外，强调了成年患者出现新发孤立性色素性视网膜炎时考虑IIIA型黏多糖贮积症的重要性。
