A novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications.

ABSTRACT: To report an adult with autosomal recessive Best vitelliform macular dystrophy with a new homozygous BEST1 mutation, the management of a cystoid macular edema with intravitreal aflibercept in the proband, and the findings in the parents, carriers of heterozygous BEST1 mutations. A 28-year-old female presented with blurry andreduced vision in her both eyes with bilateral vitelliform macular lesions. The patient's parents were also examined. Examinations included electrooculogram (EOGs), imaging studies, and BEST1 gene testing. Interventions included treatment with intravitreal aflibercept for both eyes. The patient presented with visual acuity of 20/20 OD 20/30 OS, RPE changes, multifocal subretinal yellowish deposits resembling vitelliform deposits and subretinal fluids. Cystoid macular ed

SUBMITTER: Albuainain A 

PROVIDER: S-EPMC8982945 | biostudies-literature | 2021 Apr-Jun

REPOSITORIES: biostudies-literature