Pediatric and systemic syndromes
Norrie disease
2:1111 visual cues1 clinical photo
In this image
Each number marks an object in the image and the finding it stands for.
- Norrie the narwhalNorrie disease
- X harnessX-linked recessive; predominantly males
- Broken dockNDP mutation; NDP encodes norrin
- Two cavesSevere bilateral ocular disease
- Tangled netsRetinal dysplasia / fibrovascular pseudoglioma
- IceballsLeukocoria
- Detached iceRetinal detachment
- Young NorrieCongenital or very early severe visual impairment/blindness
- Broken wireProgressive sensorineural hearing loss
- Blue moonCongenital cataract
- Puzzle piecesDevelopmental delay, cognitive impairment, behavioral abnormalities
- ReviewEvery marker, in order
Transcript
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Clinical image credits
Openly licensed photographs used in this lesson, with what was changed.
Xu Cao, Longhao Kuang, Jiexuan Lv, Shaoyi Mei, Jingjing Su, Yufang Wang, Qing Zhan and Ping Guo (2026). Case Report: Acute keratoconus as the presenting feature in undiagnosed Norrie disease: hypothesis from a novel NDP mutation.
Exact rectangular crop [0, 995, 703, 1418] from 1418 × 1418 publisher figure. Decoded RGB pixels preserved; no enhancement, arrows, retouching or upscaling.
