History of present illness
A 22-year-old male patient presents to the retina clinic referred by a comprehensive ophthalmologist for a baseline retina examination and evaluation of macular deposits in both eyes. The patient is asymptomatic and denies blurry vision, floaters, flashes, nyctalopia, or metamorphopsia. He denies any past history or any ocular conditions or ocular surgeries. The patient also denies any known medical history. Of note, his paternal grandfather had polycystic kidney disease for which he had a nephrectomy 40 years ago.
Ocular examination findings
Best corrected visual acuity was 20/20 in both eyes. Intraocular pressure was normal. Anterior segment examination was normal in both eyes. On dilated fundus examination there were bilateral, symmetrical yellowish deposits in the macula and in the retinal periphery. The rest of the posterior segment was unremarkable.
Imaging
Fundus photographs show drusen in the fovea extending inferiorly and temporally in both eyes ( Fig. 16.1 ). Fluorescein angiography (FA) (both at 9 minutes) shows well-demarcated areas of hyperfluorescence in the macula of both eyes, indicating staining of drusen, and shows no signs of leakage that would indicate a choroidal neovascular membrane ( Fig. 16.2 ).
Questions to ask
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Does the patient have any known family history of ocular conditions? A family history could be critical in the diagnosis of inherited diseases, such as autosomal dominant familial drusen or inherited macular dystrophies.
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Has the patient had a recent upper respiratory tract infection? Some white dot syndromes are preceded by a viral prodrome and can appear similar to drusen on physical examination.
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What medications does the patient take, if any? Some medications such as pentosan polysulfate can cause deep, subretinal yellowish deposits in the macula. Although classically chloroquine/hydroxychloroquine has a bull’s eye appearance in the macula, it may also present as yellowish subretinal deposits.
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Does the patient smoke or partake in illicit drug use? Although highly unlikely, as this patient is not in the correct age demographic for age-related macular degeneration (AMD), a strong social history may influence your differential diagnosis.
Assessment
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This patient is a 22-year-old male patient presenting with no visual reports and denying any past ocular history, family history of eye disease, or any known medical issues. The patient is found to have bilateral, symmetrical drusen in the macula.
Differential diagnosis
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Stargardt disease
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Pattern dystrophy
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AMD
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Autosomal dominant familial drusen
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Cuticular drusen
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Medication toxicity (pentosan polysulfate/hydroxychloroquine)
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White dot syndrome (multiple evanescent white dot syndrome, acute posterior multifocal placoid pigment epitheliopathy)
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Membranoproliferative glomerulonephritis type II (MPGN, dense deposit disease, C3 glomerulopathy)
Working diagnosis
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MPGN type II (dense deposit disease)
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The patient was sent to a primary care physician for basic lab work, including complete blood count and basic metabolic panel.
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Basic metabolic panel shows abnormal kidney function. Urinalysis shows proteinuria.
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Further workup and renal biopsy confirms histopathologic diagnosis of MPGN type II.
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Multimodal testing and results
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Fundus photographs
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On fundus examination, patients can show drusen in the macula and peripheral retina , but drusen may not be present in all patients. Patients may also have findings of retinal pigment epithelium atrophy.
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Optical coherence tomography (OCT)
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OCT findings include thickening of the Bruch membrane and drusen. Some patients may also display subretinal fluid and retinal pigment epithelial detachment.
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FA
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Unless there is development of choroidal neovascular membrane that would show early hyperfluorescence and later leakage, FA shows staining of the drusen.
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Fundus autofluorescence (FAF)
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FAF can show patchy areas of mixed hyperautofluorescence and hypoautofluorescence.
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Management
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The patient presented in this case was 20/20 in both eyes and was asymptomatic, so the patient was observed.
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Patients are typically observed, as there is usually good visual acuity unless other sequelae such as a central serous retinopathy-like reaction or choroidal neovascular membrane formation (CNVM).
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Ranibizumab has been used with good results in patients who develop CNVM with improvement of visual acuity and resolution of neovascular activity.
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Some reports show development of central serous chorioretinopathy (CSR) in patients with MPGN type II; , however, many of these patients are subjected to chronic oral steroid use to combat kidney transplant rejection, so it is unclear if this is a sequelae of MPGN or due to their chronic steroid use. CSR can be treated in the typical fashion of photodynamic therapy (PDT) or subthreshold laser (STL).
Follow-up care
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There are no clear or established follow-up guidelines for office visit frequency.
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Most patients have good visual acuity, and it is reasonable to follow up every 6 to 12 months.
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Patients with CSR, choroidal neovascular membrane, or visual acuity decline require more frequent follow-up. Sequelae of disease can be treated with anti–vascular endothelial growth factor injections, PDT, or STL.
Algorithm 16.1 : Algorithm for differential diagnosis of yellowish macular deposits/lesions
