History of present illness
We present a case of a 58-year-old man with a past medical history of gout on allopurinol, and past ocular history of myopia and age-related macular degeneration (AMD), referred for further AMD management. He was diagnosed with AMD 3 years ago, and he reports worsening vision in both eyes (right eye more than the left eye) since the time of diagnosis. He denies floaters, photopsias or flashes, or nyctalopia. He denies any history of trauma or ocular surgeries.
Ocular examination findings
Visual acuities with correction were 20/400 in the right eye and 20/60 in the left eye. His spectacle lenses measured −3.00 + 0.75 × 160 (right eye) and −3.50 + 0.50 × 170 (left eye), and there was no improvement in vision with manifest refraction. Intraocular pressures were normal. External and anterior segment examinations showed mild nuclear sclerotic cataracts but were otherwise unremarkable. Dilated fundus examination revealed multiple small, discrete, round drusen throughout the macular regions and extending into the periphery of both eyes. Retinal pigment epithelium (RPE) atrophy was present in the macula of the right eye, and a vitelliform-like, subfoveal lesion was present in the left eye ( Fig. 23.1 ). The vitelliform lesion was not associated with hemorrhage, hard exudates, or subretinal fluid.
Imaging
Optical coherence tomography (OCT) showed the presence of multiple drusen in a sawtooth pattern in both eyes. In the right eye, there was RPE atrophy with loss of the ellipsoid zone and external limiting membrane layer subfoveally. In the left eye, OCT showed subfoveal hyperreflective material ( Fig. 23.2 ) in a mound of elevated RPE.
Optical coherence tomography angiography (OCTA) did not show any neovascular membranes in either eye.
Questions to ask
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Is there a pattern to the drusen distribution?
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AMD typically shows scattered drusen of various sizes in the macular area. There may be associated RPE mottling, hyperpigmentation, or hypopigmentation due to RPE atrophy. AMD eyes may have intermediate and soft drusen, as well as reticular pseudodrusen and cuticular drusen. Exudative neovascular AMD may show turbid fluid similar to the exudation seen with pattern dystrophy.
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Autosomal dominant malattia leventinese show drusen in a radial pattern in the macula and peripapillary, sometimes described as a honeycomb pattern. In later stages, drusen can become large and confluent and appear similar to AMD.
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Cuticular or basal laminar drusen are dispersed throughout the macular area and beyond in a “milky way” or “starry night” pattern. This pattern is best seen with fluorescein angiography (FA).
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Pattern dystrophy lesions range from a circular yellow foveal spot with or without a hyperpigmented spot centrally (foveomacular dystrophy) to an X-shaped configuration (butterfly pattern) or other patterns of yellowish deposits.
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Yes. The drusen were dispersed throughout the macular areas and present in the periphery of both eyes.
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Is there any family history of AMD or drusen?
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Patients with AMD may have affected relatives as there is a genetic component.
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No, the patient was not aware of any family history of AMD.
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Is there any family history of Best disease or hereditary retinal condition?
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Best disease typically has vitelliform lesions in the macular areas. These lesions may be unifocal or multifocal; they may resemble an egg yolk or pseudohypopyon or have various degrees of “scrambled egg” appearance. Best disease is typically autosomal dominant.
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Pattern dystrophies may be dominantly inherited. Genetic testing is becoming more common. If suspected, family members should also be examined.
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No, the patient was not aware of any family ocular history and did not have any examinations as a young adult or child.
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At what age were the drusen first noted?
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Cuticular drusen are seen during young adulthood. They become more numerous over time and can coalesce.
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Unknown, because the patient did not have any examination as a young adult.
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Does the patient have renal disease? Membranoproliferative glomerulonephritis type 2 is associated with cuticular drusen.
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No
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Is the RPE detached?
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Basal laminar drusen represent thickening of the basal lamina of the RPE, and the RPE is not detached. In contrast, typical drusen in AMD are beneath the RPE, which is detached in exudative AMD.
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No
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At what age did the patient start to notice decrease in vision?
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Typically, cuticular drusen patients develop the exudative form in their late 50s and beyond.
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The patient was 55 years old.
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Is there associated hemorrhage with the lesion?
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Hemorrhage may indicate the presence of choroidal neovascularization. FA may be indicated in those cases.
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No
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Assessment
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This is a case of a 58-year-old man previously diagnosed as having AMD who shows bilateral cuticular/basal laminal drusen and a subfoveal vitelliform lesion in the left eye.
Differential diagnosis
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Cuticular drusen with vitelliform lesion
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AMD
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Autosomal dominant drusen (malattia leventinese)
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Patten dystrophy including adult-onset vitelliform maculopathy
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Best vitelliform macular dystrophy
Working diagnosis
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Cuticular drusen with vitelliform lesion
Multimodal testing and results
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Fundus photos
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Fundus examination will reveal numerous small yellow nodular drusen bilaterally. Geographic atrophy, choroidal neovascular membranes, or vitelliform pigment epithelial detachments may be present.
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OCT
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OCT will show numerous basal laminar drusen, which appear different from typical drusen that do not have basal laminar thickening.
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There can be variable reflectivity of the cuticular drusen on OCT. There are three described patterns of cuticular drusen on OCT:
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Type 1: shallow elevations of RPE with difficult-to-discern contents ( Fig. 23.2 A)
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Type 2: drusen in a sawtooth pattern ( Fig. 23.2 A and B)
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Type 3: broad, mound-shaped elevations of RPE ( Fig. 23.2 B)
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OCTA
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May show a choroidal neovascular membrane (was not seen in our patient)
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Fundus autofluorescence (FAF)
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Demonstrates numerous hypoautofluorescent drusen with a rim of hyperautofluorescence
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FA
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Demonstrates numerous hyperfluorescent drusen, conferring a starry-sky appearance (as seen on this representative photo in Fig. 23.3 )
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