Differences

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--- norrie_disease [2026/09/16 14:11] – created Scott Larson
+++ norrie_disease [2026/09/17 12:06] (current) – [Resources] Scott Larson
@@ Line 1: / Line 1: @@
 ====== Norrie Disease ======
 ====Main Features====
-  * X-linked recessive disorder caused by mutations in the //NDP// gene (Xp11.3), which encodes **norrin**, a secreted Wnt-pathway ligand for frizzled-4 essential for retinal and inner-ear vascular development.
+  * X-linked recessive disorder caused by mutations in the //NDP// gene (Xp11.3)
-  * **Congenital bilateral blindness** in affected males is the defining, earliest feature.
+    * encodes **norrin**, a secreted Wnt-pathway ligand for frizzled-4
+    * Essential for retinal and inner-ear vascular development
+  * 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).
-  * **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====
-  * **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====
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   * [[https://www.ncbi.nlm.nih.gov/books/NBK373729/|GeneReviews: NDP-Related Retinopathies (Scruggs, Reding, Schimmenti)]]
   * [[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}}

syndrome