Multimodal Imaging in a Case with Bilateral Choroidal Folds

We highlight the use of multimodal imaging to diagnose and report what is, to our knowledge, a novel presentation of bilateral choroidal neovascularization (CNV) and prominent macular choroidal folds (CFs) in a patient with pattern dystrophy. An 81-year-old Caucasian male presented with painless, blurry central vision in both eyes. Color fundus photography, spectral-domain optical coherence tomography (SD-OCT), fluorescein angiography (FA), fundus autofluorescence, and brightness scan ultrasonography supported the diagnosis of pattern dystrophy with bilateral CNV and CF. In the right eye, visually significant CNV worsened post-bevacizumab treatment but responded well to aflibercept. During 4-year follow-up, Snellen visual acuity remained excellent in both eyes at 20/20, including the treatment-naïve left eye. CFs remained markedly stable in both eyes.

Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort

Nanophthalmos is a rare condition defined by a small, structurally normal eye with resultant high hyperopia. While six genes have been implicated in this hereditary condition (MFRP, PRSS56, MYRF, TMEM98, CRB1,VMD2/BEST1), the relative contribution of these to nanophthalmos or to less severe high hyperopia (≥ + 5.50 spherical equivalent) has not been fully elucidated. We collected probands and families (n = 56) with high hyperopia or nanophthalmos (≤ 21.0 mm axial length). Of 53 families that passed quality control, plausible genetic diagnoses were identified in 10/53 (18.8%) by high-throughput panel or pooled exome sequencing. These include 1 TMEM98 family (1.9%), 5 MFRP families (9.4%), and 4 PRSS56 families (7.5%), with 4 additional families having single allelic hits in MFRP or PRSS56 (7.5%). A novel deleterious TMEM98 variant (NM_015544.3, c.602G>C, p.(Arg201Pro)) segregated with disease in 4 affected members of a family. Multiple novel missense and frameshift variants in MFRP and PRSS56 were identified. PRSS56 families were more likely to have choroidal folds than other solved families, while MFRP families were more likely to have retinal degeneration. Together, this study defines the prevalence of nanophthalmos gene variants in high hyperopia and nanophthalmos and indicates that a large fraction of cases remain outside of single gene coding sequences.

Multimodal Imaging in a Case of Localized Suprachoroidal Hemorrhage

Purpose: To report a case of localized suprachoroidal hemorrhage presenting as a choroidal mass. Case Report: A 66-year-old lady presented with sudden onset pain in the right eye, one week following uneventful cataract surgery. The best corrected visual acuity (BCVA) was 20/160 and fundus examination showed a brown elevated choroidal mass temporal to the fovea in the right eye with normal retina and retinal vessels over it. The differential diagnoses considered were choroidal granuloma, melanoma, choroidal hemangioma, posterior scleritis, and localized suprachoroidal haemorrhage (SCH). Fluorescein angiography (FA) and indocyanine green (ICG) angiography were unremarkable except for mild disc leakage; B-scan showed a choroidal mass with high surface reflectivity and low internal reflectivity, and OCT showed an elevation of retinochoroidal complex with hyporeflective mass in the outer choroid with choroidal folds suggestive of SCH. Her systemic evaluation showed raised ESR and consolidation in the upper lobe of the right lung. The patient did not take any additional treatment for her eye and the lesion regressed and visual acuity improved to 20/30 in one month. Conclusion: Delayed spontaneous suprachoroidal hemorrhage can present as a choroidal mass. Multimodal imaging helps to differentiate it from other sight-threatening and life-threatening ocular diseases.