Kaway Cindy S, Adams Madeleine K M, Jenkins Kevin Sean, Layton Christopher J
aFaculdade Evangélica do Paraná, Curitiba, Brazil.
bGallipoli Medical Research Institute, Brisbane, Queensland, Australia.
Case Rep Ophthalmol. 2017 Mar 9;8(1):180-184. doi: 10.1159/000464129. eCollection 2017 Jan-Apr.
Stargardt disease (STGD) is the most common juvenile hereditary macular dystrophy. In the majority of cases, the diagnosis is made prior to 20 years of age and usually leads to loss of central vision. Late-onset STGD affects a smaller number of patients. Identifying genetic changes which could be associated with clinically important differences in severity or presentation of the disease is important for understanding the mechanisms of visual loss and for planning future therapeutic approaches.
We report a patient with the classic phenotype of STGD with late-onset mild disease exhibiting a slow clinical progression over 14 months of follow-up.
A 37-year-old man presented with STGD and good vision of 6/24 in the right eye and of 6/6 in the left eye as well as typical electrophysiology findings. Objective and subjective visual deterioration was not noted over a period of 14 months. Macular genetic testing revealed a novel missense mutation in ABCA4 (Thr829Met) combined with Gly1961Glu, a classic STGD mutation usually associated with a moderately severe phenotype.
It is suggested that the Thr829Met mutation could give rise to a hypomorphic allele of the ABC transporter with a resultant phenotype of comparatively mild STGD.
斯塔加特病（STGD）是最常见的青少年遗传性黄斑营养不良。在大多数病例中，诊断在20岁之前做出，通常会导致中心视力丧失。迟发性STGD影响的患者数量较少。识别可能与疾病严重程度或表现的临床重要差异相关的基因变化，对于理解视力丧失机制和规划未来治疗方法很重要。
我们报告了一名具有STGD经典表型的迟发性轻度疾病患者，在14个月的随访中临床进展缓慢。
一名37岁男性患有STGD，右眼视力为6/24，左眼视力为6/6，并有典型的电生理检查结果。在14个月的时间里未观察到客观和主观视力恶化。黄斑基因检测发现ABCA4基因存在一个新的错义突变（Thr829Met），并伴有Gly1961Glu，后者是一种通常与中度严重表型相关的经典STGD突变。
提示Thr829Met突变可能产生ABC转运蛋白的一个低表达等位基因，导致相对轻度的STGD表型。
