Presenters: Dr. Androudi Sofia, M.D. Lazari Katerina, M.D. Riri Konstantina M.D.
University Hospital of Larissa, University of Thessaly, Greece

An 82-year-old woman presented with bilateral visual loss, multiple oval orange patches in the fundus with striking hyperfluorescent pattern in FA, giraffe pattern in FAF and rapidly progressing cataracts. Past medical history of the patient revealed colon cancer before years ago. So, what’s the differential?

Case Summary:

An 82-year-old woman was referred due to bilateral visual loss treated with 3 ranibizumab injections in both eyes, for presumed choroidal neovascularization (CNV) without improvement. Her past ocular history entailed cataract surgery for rapidly progressive cataract in the LE. Past medical history (PMH), was significant for colon cancer treated with surgery and chemotherapy some 15 years ago.

On the first examination in our clinic the patient’s best corrected visual acuity (BCVA) was 20/100 OU. Dilated fundus exam disclosed bilateral scattered orange lesions (Figure 1). Fundus view in the RE was compromised due to cataract. OCT exam revealed subretinal fluid in both eyes, thickened RPE with clumps alternating with areas of RPE atrophy and loss of photoreceptors (Figure 2). FAF showed decreased signal corresponding to the RPE destruction and increased signal in the intervening areas, in a giraffe pattern (Figure 3). Her latest fluorescein angiography (FA), after the cataract extraction showed multiple bilateral hyperfluorescent areas at the posterior pole (Figure 4).

The differential diagnosis for this patient was challenging. Central serous chorioretinopathy (CSCR) was ruled out due to the clinical picture and the older age of the patient. Brain magnetic resonance imaging (MRI) and positron emission tomography (PET) were negative, ruling out lymphoma and metastatic disease. Reactive Lymphoid Hyperplasia, multiple choroidal nevi and congenital hypertrophy of the retinal pigment epithelium (CHRPE) could not fit to the picture.

Patient’s PMH could not be ignored. Thus, to our view, this case was mostly compatible with bilateral diffuse uveal melanocytic proliferation (BDUMP). In view of the negative PET scan, her oncologist did not advocate for recurrence of primary disease. The patient underwent cataract extraction in the RE and treated with intravitreal dexamethasone injections OU. Some fluid absorption (Figure 5) and BCVA improvement from 20/100 to 20/50 in the LE were noticed 3 weeks later. Fluid is still present in the RE and actually a little worse with BCVA in the same levels of 20/100 (Figure 6).

BDUMP is a bizarre disease in the paraneoplastic spectrum, resulting in painless, severe visual loss (1). The management should focus on the systemic carcinoma, as BDUMP is only the tip of the iceberg. The results from corticosteroids, local or systemic, are variable (2). Prognosis is poor because the patient usually succumbs to the underlying malignancy. From the literature, mean survival is reported from 12 to 16 months after the BDUMP diagnosis, with some papers reporting even longer 4 to 10 years (3).

References:

Gass JD, Gieser RG, Wilkinson CP, Beahm DE, Pautler SE. Bilateral diffuse uveal melanocytic proliferation in patients with occult carcinoma. 1990. Retina (Philadelphia, Pa). 2003;23:527-33.
Gemperline TP, Smith BT. TREATMENT OF BILATERAL DIFFUSE UVEAL MELANOCYTIC PROLIFERATION WITH INTRAVITREAL STEROID IMPLANTS. Retin Cases Brief Rep. 2020 Jul 7. doi: 10.1097/ICB.0000000000001008. Epub ahead of print. PMID: 32649362.

Klemp K, Kiilgaard JF, Heegaard S, Nørgaard T, Andersen MK, Prause JU. Bilateral diffuse uveal melanocytic proliferation: Case report and literature review. Acta Ophthalmol. 2017;95(5):439-445.