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Pediatric and systemic syndromes

Aniridia syndrome

2:1612 visual cues2 clinical photos

In this image

Each number marks an object in the image and the finding it stands for.

  1. AnnieAniridia syndrome
  2. DominoAutosomal dominant inheritance
  3. Pac-Man + pelletsPAX6 mutation
  4. CrossedStrabismus
  5. Motion linesNystagmus
  6. Flat-topFoveal hypoplasia
  7. Wilted gardenLimbal stem cell deficiency; Keratopathy / progressive pannus
  8. Clogged bucketImpaired aqueous outflow; Elevated IOP / glaucoma
  9. Full blue moonCongenital cataract
  10. WagerWAGR syndrome association
  11. GypsyGillespie syndrome association
  12. Two ringsOptic nerve hypoplasia; Double-ring sign
  13. ReviewEvery marker, in order

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Clinical image credits

Openly licensed photographs used in this lesson, with what was changed.

  1. Andrew Winegarner, Yoshinori Oie, Satoshi Kawasaki, Nozomi Nishida, Kohji Nishida (2017). Novel PAX6 mutation reported in an aniridia patient.

    CC BY 4.0Article

    Exact rectangular crop [0, 414, 514, 723] from 1575 × 723 publisher figure. Decoded RGB pixels preserved; no enhancement, arrows, retouching or upscaling.

  2. Andrew Winegarner, Yoshinori Oie, Satoshi Kawasaki, Nozomi Nishida, Kohji Nishida (2017). Novel PAX6 mutation reported in an aniridia patient.

    CC BY 4.0Article

    Exact rectangular crop [0, 0, 510, 389] from 1575 × 723 publisher figure. Decoded RGB pixels preserved; no enhancement, arrows, retouching or upscaling.