Rare Diseases Symptoms Automatic Extraction

Concentric macular rings sign in patients with foveal hypoplasia.

[oculocutaneous albinism]

We describe a sign that can be used as a rapid and noninvasive adjunct to aid in the diagnosis of foveal hypoplasia.To describe a concentric macular rings sign found on infrared reflectance (IRR) images in patients with foveal hypoplasia.We studied 13 patients with foveal hypoplasia (7 with ocular albinism [OA], 5 with oculocutaneous albinism [OCA], and 1 with aniridia) at a tertiary ophthalmology center with access to electrodiagnostic services from February 18, 2009, through April 9, 2013.All patients and an age-matched control participant underwent a complete clinical examination, electroretinography (full field and pattern), visual evoked potentials, fundus autofluorescence IRR, and optical coherence tomography (OCT). One patient with OA and the control participant also underwent scanning laser polarimetry with variable corneal compensation (GDx VCC).Thirteen patients (6 girls and 7 boys), with a mean age of 5.8 years (range, 3-11 years), were included in the study. Seven patients were diagnosed as having OA and had minimal clinical signs (fine nystagmus in 2 patients and subtle iris transillumination in 5 patients). Five patients with OCA and 1 with aniridia were also included. In 12 patients, OA and OCA were confirmed with 5-channel visual evoked potentials (optic nerve misrouting). Whenever OCT was performed, foveal hypoplasia was indicated by the lack of foveal dip. The macula lacked the foveal attenuation normally seen with fundus autofluorescence, and a concentric macular rings reflex was seen with IRR in all 13 patients and with GDx VCC in 1 patient. A normal bowtie reflex was seen with IRR and GDx VCC in the age-matched control participant.Our findings suggest that concentric macular rings seen on IRR or GDx VCC can occur in patients with foveal hypoplasia and can therefore aid in the diagnosis, especially in patients with minimal clinical signs (mild OA) or in cases in which OCT cannot be performed (young patients or patients with high-amplitude nystagmus).

Diseases presenting "visual evoked potentials" symptom

  • alexander disease
  • aniridia
  • classical phenylketonuria
  • oculocutaneous albinism
  • zellweger syndrome

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