| Phenotype details |
15y: no significant medical history; best corrected visual acuity: 20/150 in both eyes; color fundus photographs, optical coherence tomography and fundus autofluorescence: several macular hyperfluorescent flecks bilaterally, no notable defects at the level of retinal pigment epithelium; full-field electroretinography findings: relatively normal other than minimal bilateral reductions of photopic waveforms; electro-oculography: normal; at a follow-up appointment 11 months after initial presentation, clinical examination: a large fibrotic pigment epithelial detachment along the superotemporal arcade in the left eye, no visual symptoms, visual acuity unchanged at 20/150; fluorescein angiography: mild late leakage - in the setting of a new large pigment epithelial detachment possible choroidal neovascularization (CNV); autofluorescence of the lesion: hyperfluorescence; treatment with off-label use of intravitreal bevacizumab in the left eye following informed consent, 2 sequential injections: given at a 1-month interval; 13 months after initial presentation, the pigment epithelial detachment in the left eye remained unchanged, and a similar asymptomatic pigment epithelial detachment detected in the superotemporal macula of the right eye; treatment with intravitreal bevacizumab: discontinued in the left eye at this time because there had been no evidence of significant involution either clinically or on optical coherence tomography nor any notable change in the fluorescein angiography findings; 4 months later, the pigment epithelial detachment in the right eye had slightly diminished in size, and the pigment epithelial detachment in the left eye appeared unchanged |
