Improvement of visual acuity after transcorneal electrical stimulation in case of Best vitelliform macular dystrophy

Purpose To describe results of intravitreal bevacizumab treatment of the secondary choroidal neovascularisation in Best vitelliform macular dystrophy in an adult and paediatric patient, and present the management of three asymptomatic patients with confirmed BEST1 gene mutation. Case series description Five patients from the same family with the Best vitelliform macular dystrophy are presented. In two patients (aged 63 and 4 years) secondary choroidal neovascularisation caused a rapid decline in visual acuity. In the adult patient with advanced Best vitelliform macular dystrophy, visual acuity did not improve despite eight intravitreal bevacizumab injections to the right eye. The formation of a central scar and rapid reoccurrence of choroidal neovascularisation three months after completing the initial treatment affected the outcome. As for the paediatric patient with bilateral choroidal neovascularisation in the vitelliform stage of Best vitelliform macular dystrophy, a complete recovery of visual acuity was observed after two (left eye) and three (right eye) bevacizumab injections, with adjunctive amblyopia treatment. The other three patients with an abnormal electrooculogram reported no visual problems during more than 10 years of follow-up. Minimal changes were seen on optical coherence tomography in the youngest patient. Conclusions Intravitreal bevacizumab seems to be an effective treatment for exudative choroidal neovascularisation in the vitelliform stage of Best vitelliform macular dystrophy; however, it may not be beneficial in the advanced stages of Best vitelliform macular dystrophy. It is important to regularly screen all family members with an abnormal electrooculogram and confirmed mutation for vitelliform changes and choroidal neovascularisation from an early age. The decision for anti-vascular endothelial growth factor treatment should be made on a case-to-case basis as complications may arise.

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Visual Acuity in Patients with Best Vitelliform Macular Dystrophy

Ophthalmology ◽

10.1016/s0161-6420(93)31420-x ◽

1993 ◽

Vol 100 (11) ◽

pp. 1665-1670 ◽

Cited By ~ 52

Author(s):

Gerald A. Fishman ◽

Wendy Baca ◽

Kenneth R. Alexander ◽

Deborah J. Derlacki ◽

Andrew M. Glenn ◽

...

Keyword(s):

Visual Acuity ◽

Macular Dystrophy ◽

Vitelliform Macular Dystrophy ◽

Best Vitelliform Macular Dystrophy

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Correlation of features on OCT with visual acuity and Gass lesion type in best vitelliform macular dystrophy

BMJ Open Ophthalmology ◽

10.1136/bmjophth-2021-000860 ◽

2021 ◽

Vol 6 (1) ◽

pp. e000860

Author(s):

Razek G Coussa ◽

Christopher R Fortenbach ◽

D Brice Critser ◽

Malia M Collins ◽

Budd A Tucker ◽

...

Keyword(s):

Visual Acuity ◽

Case Series ◽

Structural Features ◽

Macular Dystrophy ◽

Retrospective Case ◽

Vitelliform Macular Dystrophy ◽

Best Vitelliform Macular Dystrophy ◽

Lesion Type ◽

Prognostic Importance ◽

Endothelial Growth Factor

ObjectiveTo correlate structural features seen on optical coherence tomography (OCT) with best-corrected visual acuity (BCVA) and Gass lesion type in patients with best vitelliform macular dystrophy (BVMD).Methods and analysisThis is a retrospective case series of consecutive patients with molecularly confirmed BEST1-associated BVMD. OCT scans were reviewed for lesion status and presence of subretinal pillar, focal choroidal excavation (FCE), intraretinal fluid or atrophy. Available OCT angiography images were used to evaluate for the presence of choroidal neovascularisation (CNV). These features were then correlated with BCVA and Gass lesion type.Results95 eyes from 48 patients (mean age 38.9 years, range 4–87) were included. The presence of a pillar (24.2%), FCE (20.0%) and atrophy (7.4%) were associated with poor BCVA (p<0.05). Gass lesion type 1 eyes were correlated with good BCVA (LogMAR <0.4) whereas type 5 eyes had poor BCVA (LogMAR >0.4). Among 65 eyes with longitudinal data (mean follow-up 5.1 years), 7 eyes (10.8%) reverted from higher to lower Gass lesion type; of these, 4 eyes (57.1%) had CNV responsive to intravitreal anti-vascular endothelial growth factor treatment.ConclusionOCT-based structural features are readily identifiable in patients with BVMD and have prognostic importance due to their correlation with BCVA.

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