case_images: PMC8655537_01
case_images: Case 1, typical progression through higher Gass lesion types and vitelliform lesion collapse. A man in his 50s with Best vitelliform macular dystrophy (BEST1, Gln96Glu heterozygote) demonstrated a layered vitelliform lesion. (A) At baseline with corresponding subretinal fluid on optical coherence tomography (OCT) (B). After 2 years of follow-up, there was collapse of the vitelliform lesion (C) with solid vitelliform material but no visible subretinal fluid (D). By 6 years of follow-up, there was central atrophy (E) with reabsorption of the solid vitelliform material and loss of outer retinal layers (F).
case_images: bmjophth-2021-000860f01.jpg
case_images: PMC8655537_01_bmjophth-2021-000860f01.jpg
case_images: F1
case_images: Fundus examination demonstrated a partially-layered vitelliform lesion with SRF (Gass type 3, figure 1A, B). After 2 years of follow-up, vision declined to 20/60, with resorption of SRF (Gass type 4, figure 1C, D). By 6 years of follow-up, BCVA remained 20/60 with eccentric fixation, and there was central atrophy (Gass type 5, figure 1E, F).
case_images: PMC8655537_02
case_images: Case 2 illustrating collapse of vitelliform lesion due to choroidal neovascularisation (CNV) and rebound after antivascular endothelial growth factor (VEGF) treatment. A man in his 20s (BEST1, Tyr227Asn) was seen initially with best-corrected visual acuity (BCVA) or 20/30 (A). Optical coherence tomography (OCT) showed a vitelliform lesion with subretinal fluid (A'; yellow arrow) as well as a non-confirming focal choroidal excavation. Three years later, he presented with new distortion and was found to have a BCVA of 20/25 with resorption of subretinal fluid and accumulation of hyperreflective material (B-B'; yellow arrow). Optical coherence tomography angiography (OCTA) of the outer retina to choriocapillaris (ORCC) showed a corresponding CNV (C'', white arrow), and an intravitreal anti-VEGF treatment (bevacizumab 1.25 mg/0.05 mL) was administered. One month after treatment, there was decreased distortion and improvement in BCVA to 20/20, with rebound of fluid and an incompletely regressed CNV on ORCC slab of the OCTA (C'), and a second intravitreal anti-VEGF injection was given. One month later, the vitelliform lesion had increased in height on OCT (D-D'), with no visible CNV on OCTA (D''). An additional anti-VEGF treatment was administered and follow-up a month later showed continued increase in height of the vitelliform lesion (E-E') without visible remaining CNV (E'').
case_images: bmjophth-2021-000860f02.jpg
case_images: PMC8655537_02_bmjophth-2021-000860f02.jpg
case_images: F2
case_images: FCE and typical vitelliform lesion (Gass type 2) with SRF on OCT (figure 2A-A'). Three years later, he developed new distortion, with corresponding resorption of the SRF (Gass type 4) on OCT and a visible CNV on OCTA (figure 2B-B'). Following three sequential intravitreal anti-VEGF (bevacizumab 1.25 mg/0.05 mL) injections, there was reconstitution of SRF (Gass type 2) and regression of the CNV (figure 2C-C'', D-D'' and E-E'').
case_images: PMC8655537_03
case_images: Case 3, demonstrating collapse of a fibrotic pillar and identification of a focal choroidal excavation (FCE). Images from the right eye of a teenage man with Best vitelliform macular dystrophy (BEST1, Arg218His 653G>A). A prominent fibrotic nodule (A) was noted in the fovea, with corresponding fibrotic pillar (B, asterisk) and subretinal fluid on initial examination, which spontaneously flattened (C) in follow-up (D, arrow). No anti-VEGF treatment was initiated. By 7 years of follow-up, there was central atrophy (E), with collapse of the fibrotic pillar and enlargement in the diameter of the FCE (F, area delineated by arrows) with minimal remaining overlying subretinal fluid. VEGF, vascular endothelial growth factor.
case_images: bmjophth-2021-000860f03.jpg
case_images: PMC8655537_03_bmjophth-2021-000860f03.jpg
case_images: F3
case_images: BCVA 20/70 in the right eye at initial evaluation with a central fibrotic pillar and SRF (figure 3A, B). By 5 years of follow-up, there had been spontaneous collapse of the pillar, with 20/80 visual acuity (figure 3C, D). By 7 years of follow-up, visual acuity measured 20/50 eccentrically with central atrophy (figure 3E), flattening of the fibrotic pillar, development of a FCE and minimal remaining SRF (figure 3F).