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Aim: To evaluate the efficacy of intravitreal injections of ranibizumab in adult-onset foveomacular vitelliform dystrophy (AOFVD)., Methods: Six female patients were misdiagnosed in the office as occult choroidal neovascularization due to AMD, and scheduled for 3-monthly intravitreal injections of ranibizumab. One month after the third injection, all patients underwent further examinations consisting of visual acuity, optical coherence tomography, Indocyanine Green angiography, electrophysiological tests (electroretinogram and electrooculogram), and an exhaustive familial history of macular diseases. Cases were followed-up every 6 weeks since the formal diagnose of AOFVD was evidenced., Results: The mean BCVA improved from 0.36 ± 0.1 at baseline to 0.56 ± 0.1 (p = 0.038). No significant change was evidence in the SD-OCT thickness analysis. Metamorphopsia disappeared completely in all cases after the first injection. No familial history was evidenced., Conclusions: Ranibizumab intravitreal injections are effective in the short-term BCVA improvement in patients with AOFVD.

Objectives: To report a child with early-onset autosomal recessive Best vitelliform macular dystrophy and compound heterozygous BEST1 mutations, the management of a choroidal neovascular membrane with intravitreal bevacizumab in the proband, the benefits of amblyopia therapy in the fellow eye, and the findings in the parents, carriers of heterozygous BEST1 mutations., Methods: A 5-year-old white girl presented with monocular visual acuity loss and bilateral vitelliform macular lesions. Her parents were also examined. Examinations included electro-oculograms (EOGs), electroretinograms, imaging studies, and BEST1 gene testing. Interventions included off-label treatment with intravitreal bevacizumab in the left eye and amblyopia therapy in the right eye., Results: The proband presented with visual acuity of 20/200 OD with an atypical subfoveal vitelliform scar and 20/16 OS with asymptomatic vitelliform deposits. Subfoveal choroidal neovascularization developed at age 6 years, causing marked vision loss (20/200 OS). Visual acuity recovered to 20/20 OS after serial intravitreal bevacizumab injections. Amblyopia therapy improved visual acuity to 20/50 OD. The proband showed subnormal EOG Arden ratios and mild electroretinogram changes. Molecular testing showed missense BEST1 mutations (R141S and R141H) in the proband. Unlike dominant Best vitelliform macular dystrophy, in the heterozygous parents EOGs were normal and minimal autofluorescence changes were seen., Conclusions: Choroidal neovascularization treatment with bevacizumab was associated with vision restoration. Amblyopia treatment also yielded significant benefit. Patients presenting with vitelliform lesions should be screened for BEST1 mutations, even when parents have normal EOG and imaging results., Clinical Relevance: Prompt recognition and treatment of choroidal neovascularization and amblyopia management effectively restores vision. Awareness and recognition of recessive inheritance permits correct diagnosis and counseling.

A 72-year-old woman with decreased visual acuity secondary to an adult-onset vitelliform detachment was treated with three monthly intravitreal injections of 0.5 mg of ranibizumab. Treatment response was monitored by visual acuity and by the eye-tracking feature of the Heidelberg Spectralis spectral domain optical coherence tomography (Heidelberg Engineering, Inc., Carlsbad, CA). There was no improvement in functional or anatomic outcome after three monthly injections of ranibizumab. The eye-tracking feature of the spectral domain optical coherence tomography system was highly accurate in making comparisons between serial optical coherence tomography examinations., (Copyright 2010, SLACK Incorporated.)