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Multimodal retinal imaging in achromatopsia.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal imaging

Background:

  • Incomplete achromatopsia is a rare inherited retinal disorder.
  • Early diagnosis and understanding of imaging findings are crucial for management.

Observation:

  • A 12-year-old female presented with congenital nystagmus, photophobia, and reduced visual acuity.
  • Symptoms of impaired color vision were present since age 5.
  • Best-corrected visual acuity was 20/200 in both eyes.

Findings:

  • Fundus photography demonstrated macula mottling.
  • Fundus autofluorescence revealed a bull's-eye maculopathy.
  • Spectral domain optical coherence tomography showed reduced outer nuclear layer thickness and photoreceptor damage in the subfoveal region.
  • Electroretinogram indicated extinguished cone responses with preserved rod function.

Implications:

  • Fundus autofluorescence and spectral domain optical coherence tomography can aid in screening for achromatopsia.
  • Electroretinogram remains the gold standard for diagnosing achromatopsia.
  • Comprehensive imaging aids in understanding the pathophysiology of incomplete achromatopsia.