Misdiagnosing macular degeneration
A number of macular conditions either mimic or share characteristic findings of age-related macular degeneration (AMD). These resemblances can result in tough clinical decisions and misdiagnosis. Although genetic testing can be helpful, tests are limited by both their efficacy and accuracy.
A number of macular conditions either mimic or share characteristic findings of age-related macular degeneration (AMD). These resemblances can result in tough clinical decisions and misdiagnosis. Although genetic testing can be helpful, tests are limited by both their efficacy and accuracy.1 It is also possible for a patient with positive genetic predisposition to or diagnosis of AMD to suffer from a coexisting disease.
Clinical findings and diagnostic imaging direct clinicians toward a differential diagnosis. A number of these characteristics will be reviewed here by presenting cases of misdiagnosis.
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Case 1
A 64-year-old Caucasian female was referred for wet AMD. The patient complained of gradual worsening near vision in both eyes. Her ocular history was unremarkable. She was diagnosed with type 2 diabetes one month before her appointment. Her best-corrected visual acuity (BCVA) OD was 20/20 and OD 20/60, and her anterior segment was significant only for 2+ nuclear sclerosis.
Fundus examination was remarkable for mild distortion of foveal light reflex and subtle pigment mottling temporal to fovea as shown in fundus photograph (Figure 1A). Fundus autofluorescence (FAF) demonstrated hyperautofluorescence in the area of pigmentary change (Figure 1B).
Optical coherence tomography (OCT) was remarkable for normal choroidal thickness, and outer-segment atrophy temporal to her foveas. OD exhibited a small area of juxtafoveal hyporeflectivity of the inner retina.
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OS exhibited a juxtafoveal hyporeflective area in the outer retina with early internal limiting membrane (ILM) drape (Figure 1C). Fluorescein angiography (FA) was remarkable for staining of the retinal pigment epithelium temporal to fovea in both eyes with no evidence of choroidal neovascular membranes (CNV) (Figure 1D). In both OCT and FA, few small drusen were scattered within the posterior pole. Plan and follow up will be discussed below.
Does this patient have AMD?
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