History of present illness
We present a case of a 64-year-old woman with history of hypertension, diabetes, and smoking referred for bilateral multifocal neurosensory detachments with vitelliform lesions previously diagnosed as central serous chorioretinopathy (CSC). She reports blurred vision in both eyes for 2 to 3 months. She denies floaters, photopsias or flashes, metamorphopsia, or nyctalopia. She denies any history of ocular conditions or ocular surgeries.
Ocular examination findings
Visual acuity with correction was 20/40 in each eye. Intraocular pressure was normal. External and anterior segment examinations showed mild nuclear sclerotic cataracts but otherwise were unremarkable. Dilated fundus examination showed multiple symmetrical, variably sized detachments of the neurosensory retina with vitelliform deposits ( Fig. 53.1 ).
Imaging
Optical coherence tomography (OCT) showed multiple subretinal large serous detachments bilaterally, involving the fovea, with a thick layer of vitelliform material on the outer retinal surface ( Fig. 53.2 ).
Questions to ask
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Does the patient have a family history of ocular conditions or consanguinity? A family history would be important to ascertain etiologies for vitelliform disorders such as Best disease or pattern dystrophies.
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No
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Does the patient have a history of cancer? Paraneoplastic syndromes can result in paraneoplastic acute exudative polymorphous vitelliform maculopathy (AEPVM).
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No
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What medications does the patient take? Medications such as mitogen-activated protein kinase inhibitor (MAPK) and extracellular signal-related kinase 2 (ERK2) inhibitors (usually taken to treat neoplasm) have been associated with multifocal serous or vitelliform retinal detachments. Use of steroids may result in CSC.
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Amlodipine, metformin, omeprazole, ranitidine, and rosuvastatin. No culprit medications are noted.
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Assessment
This is a case of a 64-year-old woman with no ocular or surgical history and a negative family history demonstrating bilateral symmetrical vitelliform retinal detachments on OCT.
Differential diagnosis
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Best disease
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Multifocal vitelliform dystrophy
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Sjögren-Larsson syndrome
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Pattern dystrophies
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Age-related macular degeneration (AMD)
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Pseudoxanthoma elasticum
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Vitreomacular traction (VMT) syndrome
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Macular telangiectasia type 2
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CSC
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Idiopathic AEPVM
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Paraneoplastic syndromes
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MAPK inhibitor retinopathy
Working diagnosis
Idiopathic AEPVM
Multimodal testing and results
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Fundus photographs
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On fundus examination, early findings include multiple bilateral symmetrical well-defined serious retinal detachments, which vary in size (polymorphous). They appear bleb-like, are multiple (at least five per eye), and with foveal involvement.
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Numerous small bleb-like lesions can also develop in a honeycomb distribution along the vascular arcades. This is less common.
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Over time, vitelliform material can accumulate within the serous detachments. The vitelliform material frequently precipitates to form menisci, so-called pseudohypopyon lesions. The vitelliform lesions can be present for months to years and may eventually resolve or progress to retinal pigment epithelium changes.
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OCT
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Our patient has no drusen, no thickening of the choroidal layer, and no abnormal vitreous adhesion to suggest other etiologies like AMD, CSC, and VMT.
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Multiple large and small dome-shaped retinal detachments with hyporeflective subretinal fluid are seen in AEPVM. When vitelliform deposits accumulate, there is a thick hyperreflective material layering on the outer retinal surface.
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After resolution of the deposits, the ellipsoid layer largely remains intact, explaining the restoration of good vision in most patients.
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Intraretinal cysts can be present in the earlier stages when subretinal fluid is present.
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Fundus autofluorescence (FAF)
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The vitelliform deposits shows characteristic intense hyperautofluorescence.
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FAF is one of the key diagnostic tests for idiopathic AEPVM. The intense autofluorescence is due to lipofuscin-rich vitelliform deposits, which may be due to phagocytized photoreceptor outer segments.
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Fluorescein angiography (FA)
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The vitelliform material is hypofluorescent due to blockage. The optic nerve and vasculature are normal, without signs of inflammation or increased permeability.
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The cystic changes on OCT do not show leakage on FA.
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Electrophysiologic tests
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Electroretinogram (ERG) is largely normal or may have slightly abnormal results on multifocal ERG.
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Electrooculogram can be abnormal in half of patients, similar to bestrophinopathies. ,
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Genetic testing
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This can be obtained to help rule out genetic disorders such as bestrophinopathy or pattern dystrophy from mutations in BEST1 or peripherin/RDS . ,
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OCTA
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Choroidal neovascularization may sometimes complicate the course and can be identified on OCTA.
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Management
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The patient was referred to her internist for age-appropriate cancer screening, which also included a full body skin examination to rule out cutaneous melanoma. Given her history of smoking, she also underwent chest computed tomography. Workup was negative for any malignancy.
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The patient’s visual acuity remained 20/40, without any secondary changes of choroidal neovascularization (CNV) or atrophy.
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General management for idiopathic AEPVM is typically observation given the high likelihood of spontaneous resolution and relatively preserved good vision in these patients, though electrophysiological abnormalities may persist.
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However, given significant overlap of clinical presentation with Best disease and paraneoplastic AEPVM, age-appropriate cancer screening should be performed. ,
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Patients with early onset (age <20 years) and abnormal electrophysiologic tests should also be considered for genetic testing.
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One case of secondary CNV was treated with a single intravitreal injection of triamcinolone acetonide.
Follow-up care
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There are no previously established guidelines for follow-up.
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Our patient is followed on a biannual basis to monitor the evolution from serous subretinal fluid, to vitelliform deposits, to resolution, which could occur over months to years.
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If the patient is symptomatic or demonstrates progression on OCT, more frequent follow-up is indicated.
Algorithm 53.1 : Differential diagnosis for vitelliform detachments
