Rare Diseases Symptoms Automatic Extraction

Idiopathic, isolated fovea plana with bilateral off-centre multifocal ERGs.

[aniridia]

The purpose of this paper is to report a case of idiopathic isolated fovea plana showing asymmetry in the multifocal electroretinogram (mfERG).We carried out optical coherence tomography (OCT) imaging, macular pigment density measurement, genetic testing and electrophysiological testing with visual evoked potentials and mfERGs on a young, highly myopic female of Pakistani origin, who had good visual acuity and no nystagmus.OCT imaging revealed a complete absence of any foveal pit in either eye. Macular pigment density was normal and visual evoked potentials indicated normal chiasmal crossings, excluding albinism. Genetic testing revealed normal PAX6 coding data, excluding aniridia as a cause. mfERGs showed asymmetry consistent with off-centre fixation to the temporal side of the fovea in both eyes, but were otherwise normal.Lack of a foveal pit is a well-known finding in conditions such as oculocutaneous albinism and PAX6 gene-related aniridia. Isolated fovea plana is less common, and this case illustrates that the absence of a foveal pit does not necessarily result in a poor visual outcome. The finding of asymmetry in the mfERG in such a case is novel, and may indicate a functional adaptation to the structure of the fovea.

Diseases presenting "asymmetry in the mferg" symptom

  • aniridia
  • oculocutaneous albinism

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