Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy

Abstract

PDT was a safe procedure in our series of pediatric patients with VMD complicated by CNV. It was followed by a CNV regression and a consequent improvement in visual acuity which continued to progress even several years after the treatment.

Ranibizumab 0.5 Mg Treatment in Adolescents With Choroidal Neovascularization: Subgroup Analysis Data From the Minerva Study

“… 18 Best disease is characterized by vitelliform lesions of the central macula and electro-oculographic abnormalities. 19 , 20 Choroidal neovascularization secondary to Best disease is often associated with acute vision loss, but some cases may also progress to disciform scar vision loss. 19 , 20 In MINERVA, the adolescent patients with these CNV lesions reported a mean visual acuity gain of +16.6 letters at Month 12 with ranibizumab treatment.…”

“… 19 , 20 Choroidal neovascularization secondary to Best disease is often associated with acute vision loss, but some cases may also progress to disciform scar vision loss. 19 , 20 In MINERVA, the adolescent patients with these CNV lesions reported a mean visual acuity gain of +16.6 letters at Month 12 with ranibizumab treatment. Few pediatric cases with these CNV lesions have also reported improvement of visual acuity with other treatment options, such as laser photocoagulation and verteporfin photodynamic therapy.…”

Intravitreal Ranibizumab for Choroidal Neovascularization Secondary to Gyrate Atrophy in a Young Patient: A Multimodal Imaging Analysis

“…Choroidal neovascularization occurs in several chorioretinal diseases and has been reported rarely in patients with inherited retinal dystrophies, accelerating visual loss (6). Argon laser photocoagulation, photodynamic therapy, or intravitreal anti-vascular endothelial growth factor (anti-VEGF) agents have been sporadically used in cases of retinitis pigmentosa, Stargardt disease, and Best vitelliform dystrophy, with variable outcomes (7, 8), while the therapeutic management of CNV secondary to GA remains challenging. Three cases of subfoveal CNV associated with GA, monitored without treatment and resulting in severe visual impairment, have been reported in the literature (5, 6).…”

Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report

“…We classified c.218T>G in BEST1 (PM1+PM2+PM5+PP2+PP3+PP4) and c.479G>C in CRYBB2 (PS2+PM2+ PP3) as likely pathogenic according to the American College of Medical Genetics and Genomics (ACMG) criteria [ 9 ]. As several previously reported missense variants in BEST1 are known to cause ADVIRC by affecting pre-mRNA splicing [ 2 , 10 , 11 ], we performed minigene assays to assess the impact of c.218T>G on splicing using a pET01-based exon trapping system (Exontrap; MoBiTec GmbH, Goettingen, Germany). An additional file shows this in more detail [see Additional file 1 ].…”