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ortho–para-Directing Activators: –CH3, –OH, –⁠NH2, –OCH301:11

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Related Experiment Video

Updated: Feb 1, 2026

Retinal Explant of the Adult Mouse Retina as an Ex Vivo Model for Studying Retinal Neurovascular Diseases
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Photo Essay: Retinal Changes in Type 3 Gaucher Disease.

Shweta Anand1, Desmond Kidd2, Derralynn Hughes3

  • 1Department of Ophthalmology, Royal Free London Hospitals NHS Foundation Trust, London, UK.

Neuro-Ophthalmology (Aeolus Press)
|December 8, 2018
PubMed
Summary
This summary is machine-generated.

Gaucher disease can affect the eyes, causing vision problems. This study details macular deposits in a patient with type 3 Gaucher disease, linking them to glucocerebroside accumulation.

Keywords:
Gaucher diseaseglycolipidsretinal Gaucher cells

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Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Biochemistry

Background:

  • Gaucher disease is a rare genetic disorder characterized by the buildup of glucocerebroside in cells.
  • Ocular manifestations of Gaucher disease are diverse, including gaze abnormalities and macular changes.
  • Type 3 Gaucher disease is a severe neurological form with progressive symptoms.

Purpose of the Study:

  • To report and characterize bilateral fovea sparing macular deposits in a patient with type 3 Gaucher disease.
  • To investigate the potential correlation between retinal deposits and systemic disease burden.

Main Methods:

  • Clinical case report of a 21-year-old woman with diagnosed type 3 Gaucher disease.
  • Ophthalmic examination including funduscopy to assess macular features.
  • Review of existing literature on ocular manifestations of Gaucher disease.

Main Results:

  • The patient presented with bilateral macular deposits that specifically spared the fovea.
  • These deposits are hypothesized to result from glucocerebroside accumulation within histiocytes in the retinal layers.
  • The findings suggest a potential link between the extent of retinal involvement and systemic Gaucher disease severity.

Conclusions:

  • Macular deposits, particularly fovea sparing, can be an ocular finding in type 3 Gaucher disease.
  • Retinal histiocyte infiltration by glucocerebroside may underlie these deposits.
  • Further research is warranted to confirm the correlation between ocular and systemic disease progression in Gaucher disease.