Optom Vis Sci. 2022 Apr 1;99(4):405-412. doi: 10.1097/OPX.0000000000001858.
This case report discusses a case of suspected occult macular dystrophy, which is an underrecognized but not rare subtype of cone dystrophy. Increasing clinician recognition of occult macular dystrophy will lead to increased accurate diagnosis of affected patients.
A clinical presentation and diagnosis of a case of suspected occult macular dystrophy, as well as background information and management, are reported.
A 44-year-old White man reported long-standing decreased vision and photophobia in both eyes. Examination revealed a bilateral reduction in best-corrected visual acuity, abnormal color vision, central visual field defects, and subtle disruption of subfoveal photoreceptor integrity on optical coherence tomography with a normal fundus appearance. The multifocal electroretinogram showed decreased perifoveal responses, whereas both the photopic and scotopic full-field electroretinograms were normal. This distinctive electroretinogram response pattern was critical in the diagnosis of occult macular dystrophy.
Reduced visual acuity with a normal clinical examination result is commonly encountered in patients with occult macular dystrophy. Therefore, clinicians must be aware of occult macular dystrophy and order appropriate testing to accurately identify cases of occult macular dystrophy. Without thorough evaluation, patients may be easily misdiagnosed with other etiologies of vision loss.
本病例报告讨论了一例疑似隐匿性黄斑营养不良病例，这是一种未被充分认识但并不罕见的锥体细胞营养不良亚型。提高临床医生对隐匿性黄斑营养不良的认识将导致更多的受影响患者得到准确诊断。
报告一例疑似隐匿性黄斑营养不良病例的临床表现和诊断，并介绍其背景信息和治疗管理。
一名 44 岁白人男性报告双眼长期视力下降和畏光。检查发现双眼最佳矫正视力下降，色觉异常，中心视野缺损，以及光相干断层扫描显示黄斑中心凹下光感受器完整性细微破坏，但眼底外观正常。多焦视网膜电图显示周边视野反应减弱，而明适应和暗适应全视野视网膜电图正常。这种独特的视网膜电图反应模式对隐匿性黄斑营养不良的诊断至关重要。
隐匿性黄斑营养不良患者的常见表现为视力下降但临床检查结果正常。因此，临床医生必须意识到隐匿性黄斑营养不良的存在，并进行适当的检查以准确识别隐匿性黄斑营养不良病例。如果没有进行全面评估，患者可能会被误诊为其他病因导致的视力丧失。
