OSLI Retina

August 2020

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468 Ophthalmic Surgery, Lasers & Imaging Retina | Healio.com/OSLIRetina prior presentation to our department. In addition, it was disclosed that he had previously undergone la- ser barricade to regions around vitreoretinal traction in the left eye (OS), as an attempt to prevent further progression four months prior to our evaluation. Family history was negative for ocular diseases. At first examination, best-corrected visual acu- ity (BCVA) was 20/200 OD and 20/70 OS. Intra- ocular pressure was normal. Slit-lamp examination disclosed conjunctival injection with a posterior subcapsular cataract in the right eye and a normal left eye. Posterior examination showed a detached retina under silicone oil with laser scars and pig- ment clumping in the right eye (Figure 1A), and a combined tractional and rhegmatogenous RD in the left eye (Figure 1C). The tractional component in the left eye compromised the macula and the mid- periphery, and operculated holes were located infe- riorly. Clumps of pigment outside the arcades in an annular configuration were also noticed in the left eye, very similar in appearance to the contralateral eye. Fluorescein angiography showed hyperfluores- cence secondary to pooling in the areas of detached retina with hypofluorescence in the areas of pig- ment clumping (Figures 1B and 1D). Optical coher- ence tomography (OCT) in the right eye revealed atrophy of the outer retinal layers and subretinal fluid (SRF) in the macula, and the left eye showed tractional detachment (Figures 2A-2C). As the pre- sentation was atypical for a specific condition, we performed a full field electroretinogram (ERG) that reported cone-rod dysfunction worse in the right eye (Figure 3). Genetic testing was performed by di- rect testing in the gene of the MVL Vision Panel (v2; Molecular Vision Lab, Hillsboro, OR) by target en- richment and next-generation sequencing. Testing results reported a novel hetero missense variant in the VCAN gene, namely NM_004385.5:c.9265G>C Figure 1. Color fundus photographs showing retinal detachment and pigmentary changes both eyes (A, C). Fluorescein angiography images demonstrating pooling and staining both eyes without leakage (B, D).

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