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Related Experiment Video

Updated: Feb 8, 2026

A Simple and Low-cost Assay for Measuring Ambulation in Mouse Models of Muscular Dystrophy
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Granular corneal dystrophy: an enigma resolved.

Pranita Sahay1, Divya Agarwal1, Prafulla K Maharana2

  • 1Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

International Ophthalmology
|June 27, 2018
PubMed
Summary
This summary is machine-generated.

Granular corneal dystrophy (GCD) shows varied symptoms even within families. Early diagnosis and family screening are crucial for managing this genetic eye condition.

Keywords:
5q31Corneal dystrophyGranular corneal dystrophyTGF beta 1

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Area of Science:

  • Ophthalmology
  • Genetics

Background:

  • Granular corneal dystrophy (GCD) is a rare genetic eye disorder.
  • It is characterized by the deposition of abnormal material in the cornea.

Observation:

  • Two cases of GCD within the same family (mother and daughter) were studied.
  • An 18-year-old daughter presented with glare and brownish granules in the superficial cornea.
  • Her mother displayed diffuse white granular opacities with a snowflake appearance in the central cornea.

Findings:

  • The daughter's presentation suggested Bowman layer dystrophy.
  • The mother's findings were typical of GCD, with deep stromal involvement.
  • Genetic analysis identified a mutation in the TGF beta-1 gene, confirming GCD.

Implications:

  • Phenotypic variability of GCD can complicate diagnosis, especially across different age groups.
  • Family member screening is essential for early detection and management of GCD.
  • Understanding genetic mutations aids in diagnosing and potentially treating GCD.