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Best vitelliform macular dystrophy (BVMD) is caused by mutations in BEST1 (also known as VMD2; OMIM 153700) on the long arm of chromosome 11.1 An array of BEST1 phenotypes have now been characterized, including microcornea, rod-cone dystrophy, early-onset cataract, posterior staphyloma syndrome, vitreoretinochoroidopathy, and adult-onset foveomacular vitelliform dystrophy. BEST1 encodes bestrophin, a 585–amino acid protein with more than 120 described mutations.2 We herein present 2 siblings with bilateral retinoschisis and electroretinography (ERG) consistent with BVMD associated with a novel mutation in BEST1.
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Figure 1. Fundus photographs of case 1. Montage fundus images of the right (A) and left (B) eyes revealing bilateral yellow foveal clusters within a coarsened vitelliform lesion, well circumscribed by a pigment line and surrounding striae. Additional perifoveal as well as peripheral nasal semicircinate vitelliform lesions are also seen bilaterally.
Figure 2. Optical coherence tomography of case 1. Optical coherence tomography of the right (A) and left (B) eyes with foveal sectioning reveals splitting at the outer plexiform layer. Also seen are symmetric cystic changes in the inner nuclear layer with no retinal break. Additionally, bilateral subfoveal serous retinal detachments are present.
Figure 3. Fluorescein angiography of case 1. Fluorescein angiography of the right (A) and left (B) eyes demonstrates bilateral, heterogeneous, central fluorescein staining that mimics a fluid level. Late hyperfluorescence peripherally, corresponding to vitelliform lesions seen in Figure 1, is also noted.
Figure 4. Electroretinogram of case 1. Scotopic electroretinogram responses of the right (OD) (A) and left (OS) (B) eyes demonstrate a-wave amplitudes of −9.36 and −8.70 μV, b-wave amplitudes of 213.7 and 209 μV, and implicit times of 28 and 27 and 115 and 119 milliseconds, respectively. Maximal combined response of the right and left eyes demonstrates a-wave amplitudes of −123 and −117 μV, b-wave amplitudes of 318 and 276 μV, and implicit times of 18 and 18 and 63 and 64 milliseconds, respectively. Oscillatory potentials of the right and left eyes are −38.8 and −43.5 μV, respectively. Photopic responses of the right and left eyes demonstrate a-wave amplitudes of −25.7 and −33.3 μV, b-wave amplitudes of 145 and 143 μV, and implicit times of 15 and 16 and 34 and 34 milliseconds, respectively. The 30-Hz flicker responses of the right and left eyes demonstrate b-wave amplitudes of 130 and 128 μV with implicit times of 30 and 30 milliseconds, respectively. Div indicates division; F, flicker; and OP, oscillatory potential.
Figure 5. Multifocal electroretinogram of case 1. Multifocal electroretinogram of the control right eye (A), the patient's right eye (B), the control left eye (C), and the patient's left eye (D) demonstrates severe macular dysfunction in both eyes. Both eyes demonstrate central depression of cone responses with P1 amplitudes reduced by approximately 71% of reference values in both eyes.
Figure 6. Electrooculogram of case 1. Electrooculogram of the right (A) and left (B) eyes demonstrates an attenuated light response of the standing potential in both eyes, with an Arden ratio of 1.27 and 1.26 in the right and left eyes, respectively. Downward arrowheads indicate a dark trough and upward arrowheads, a light peak.
Figure 7. Optical coherence tomography of case 2. Optical coherence tomography of the left eye with foveal sectioning reveals retinoschisis with an extensive serous retinal detachment. Also seen is a full-thickness macula hole at the fovea.
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