EPOS
European Paediatric Ophthalmological Society
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07 Phenotypic variability in a family with Best's disease and a heterozygous mutation in the VMD2-Gene
Kretschmann, U.1, Faßbender; B.1, Weber, B.H.F.2,
Lorenz, B.1
University of Regensburg, University of Würzburg
Purpose: To demonstrate the variability of the phenotype in a family with Best's disease and a heterozygous delI295 mutation in the VMD2-gene.
Methods: Two brothers and their parents were examined clinically (slit lamp, funduscopy). Further examinations were performed in the two siblings and their mother (EOG, multifocal ERG and OCT). The two siblings were screened for mutations in the VMD2-gene.
Results: The first sibling, aged 14 years, presented with a macular scar in the RE and a cystic lesion in the macula of the LE. The OCT showed an elevated signal of the retinal pigment epithelium of the RE and a cystic lesion of the LE. The EOG findings were normal. The multifocal ERG showed a slight reduction of the foveal potentials.
His brother, aged 11 years, presented with normal visual acuity and only slight fundus changes. The OCT findings were normal. The EOG and multifocal ERG examinations were difficult to evaluate due to compliance. In the LE the Arden-ratio seemed to be normal.
The mother, aged 39 years, showed normal visual acuity and only slight fundus changes. The OCT findings were normal. Because the Arden-Ratio was decreased in the EOG Best's-disease was diagnosed. The multifocal ERG showed a slight reduction of the foveal potentials. The father, born 1961, presented with normal visual acuity and no fundus changes in the clinical examination.
In both brothers a heterozygous delI295 mutation in the VMD2-gene was found.
Conclusion: The examination shows the variability of clinical findings in patients with the same mutation in the VMD2-gene. In young patients the EOG can be normal despite of a clinically apparent maculopathy. In the mother the EOG showed no light peak, although there were no major signs of maculopathy.