Choroidal neovascularization as first sign of Best's vitelliform dystrophy in a child

• Published in: Acta ophthalmologica (Oxford, England) England), 2024-01, Vol.102 (S279), p.n/a
• Main Authors: Montero‐Moreno, Javier, Diez‐Montero, Cecilia, Sanchis‐Merino, Maria Eugenia, Hernandez‐Fernandez, Rosario, Cañibano‐Perez, Elisabeth
• Format: Article
• Language: English
• Subjects: Acuity; Anesthesia; Case reports; Dystrophy; Edema; Epithelium; Eye; Hemorrhage; Injection; Mutation; Retinal pigment epithelium; Vascularization
• ISSN: 1755-375X; 1755-3768
• DOI: 10.1111/aos.15884

Aims/Purpose: To report a case of choroidal neovascularization secondary to Best's vitelliform dystrophy in a child managed by intravitreal aflibercept. Methods: Interventional, case report. Results: A 9‐year‐old boy reported decreased visual acuity (VA) with metamorphopsia in his right eye (RE) for the previous month. VA was RE 20/100 and left eye (LE) 20/20. Funduscopy revealed right‐eye macular oedema with deep macular haemorrhage associated to a bilateral orange‐yellowish deposit. Optical coherence tomography (OCT) showed sub‐ and intraretinal fluid in the foveal area along with a hyperreflective subretinal deposit and a localized retinal pigment epithelium (RPE) elevation. Blue autofluorescence (BAF) imaging disclosed a central hyper autofluorescence area as well as a larger defect corresponding to the haemorrhage and the subretinal deposit. The LE was positive for a central deposit located under the RPE with hyper autofluorescence at BAF. Familiar history was unknown for ocular conditions and the clinical history was irrelevant for fever, inflammation, adenopathy, articular, neurological or respiratory conditions. The condition was diagnosed as choroidal neovascularization (CNV) secondary to Best's vitelliform dystrophy and a single intravitreal injection of aflibercept was performed under general anaesthesia. Genetic study revealed a likely pathogenic mutation c.874G>C (p.Glu292Gln) in the BEST1 gene (missense change, not previously published) affecting a functional dominion. The subretinal bleeding and fluid resolved after one single injection of aflibercept and VA improved to 20/20. No recurrences have been observed during the subsequent five years in either eye. Conclusions: We report a case of CNV as first manifestation of a previously not reported mutation of Best's vitelliform dystrophy in a 9‐year‐old boy that was successfully treated with one single intravitreal injection of aflibercept.