Dot-and-fleck retinopathy – Alport syndrome

Alport syndrome

  • Caused by an inherited defect in type IV collagen
  • Structural material that is needed for the normal function of different parts of the body – found in the ears, eyes, and kidneys

Alport syndrome is a triad of –

  • Progressive renal failure,
  • Hearing loss
  • Ocular abnormalities.

What are the eye involvements in Alport syndrome ?

The absence of type IV collagen affects the basement membrane of cornea, lens capsule, and retina in the eye.

  • Staircase foveopathy
  • Dot-and-fleck retinopathy
  • Lenticonus – cone-shaped lens
  • Cataract
  • Temporal retinal thinning
  • Maculopathy

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