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norrie_disease [2026/09/17 12:00] – Scott Larsonnorrie_disease [2026/09/17 12:06] (current) – [Resources] Scott Larson
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     * encodes **norrin**, a secreted Wnt-pathway ligand for frizzled-4      * encodes **norrin**, a secreted Wnt-pathway ligand for frizzled-4 
     * Essential for retinal and inner-ear vascular development     * Essential for retinal and inner-ear vascular development
-  * **Congenital bilateral blindness** in affected males is the defining, earliest feature.+  * Retinal vascular developmental defects lead to 
 +    * Avascular peripheral retina 
 +    * Retinal gliosis and vitreous 
 +    * Retinal detachment  
 +      * Congenital bilateral blindness
   * **Progressive sensorineural hearing loss** occurs in ~30%, usually later onset (childhood into adulthood).   * **Progressive sensorineural hearing loss** occurs in ~30%, usually later onset (childhood into adulthood).
-  * **Neurodevelopmental involvement** in a substantial subset: developmental/motor delay (~30–50%), mild-to-moderate intellectual disability, behavioral problems/psychosis, autism features, and seizures. Larger deletions (complete norrin loss) → more severe multisystem disease.+  * Neurodevelopmental 
 +    * Developmental/motor delay (~30–50%), mild-to-moderate intellectual disability, behavioral problems/psychosis, autism features, and seizures.  
 +    * Larger deletions (complete norrin loss) → more severe multisystem disease.
  
 ====Eye Findings==== ====Eye Findings====
  
-  * **Retrolental mass ("pseudoglioma")** — grayish-yellow mass of immature retinal cells resembling retinoblastoma, present at or shortly after birth. +  * Retinal detachment, retinal gliosis, avascular peripheral retina 
-  * **Leukocoria** — hallmark sign; with retinal dysplasia and partial/complete retinal detachment. +  * Retrolental mass ("pseudoglioma") — grayish-yellow mass of immature retinal cells resembling retinoblastoma 
-  * **Progressive anterior/globe changes** — cataract, corneal opacification, iris atrophy, synechiae, secondary glaucoma/buphthalmos, and eventual **phthisis bulbi**, typically within the first decade. +  * Leukocoria — hallmark sign; with retinal dysplasia and partial/complete retinal detachment. 
-  * **Microphthalmia and nystagmus** are common. +  * Progressive anterior/globe changes — cataract, corneal opacification, iris atrophy, synechiae, secondary glaucoma/buphthalmos, and eventual phthisis bulbi, typically within the first decade. 
 +  * Microphthalmia 
 +  * Nystagmus
 ====Other Findings==== ====Other Findings====
  
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   * [[https://www.ncbi.nlm.nih.gov/books/NBK373729/|GeneReviews: NDP-Related Retinopathies (Scruggs, Reding, Schimmenti)]]   * [[https://www.ncbi.nlm.nih.gov/books/NBK373729/|GeneReviews: NDP-Related Retinopathies (Scruggs, Reding, Schimmenti)]]
   * [[https://medlineplus.gov/genetics/gene/ndp/|MedlinePlus: NDP gene]]   * [[https://medlineplus.gov/genetics/gene/ndp/|MedlinePlus: NDP gene]]
-  * [[link|Pauzuolyte et al. Systemic Gene Therapy Rescues Retinal Dysfunction and Hearing Loss in a Model of Norrie Disease, EMBO Mol Med 2023]] +  * [[https://www-clinicalkey-com.slhs.idm.oclc.org/#!/content/1-s2.0-S0161642010003763|Chow et al. Laser Photocoagulation at Birth Prevents Blindness in Norrie's Disease, Ophthalmology 2010]]
-  * [[link|Chow et al. Laser Photocoagulation at Birth Prevents Blindness in Norrie's Disease, Ophthalmology 2010]]+
  
 {{tag>syndrome}} {{tag>syndrome}}