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leber_congenital_amaurosis [2025/11/25 16:44] – Scott Larsonleber_congenital_amaurosis [2025/11/25 18:19] (current) – [Differential Dx] Scott Larson
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 ====== Leber Congenital Amaurosis ====== ====== Leber Congenital Amaurosis ======
- +First described in 1869 by Theodore Leber. 
-FIXME+
  
 ====Main Features==== ====Main Features====
   * Congenital or Early infancy non-syndromic retinal blindness   * Congenital or Early infancy non-syndromic retinal blindness
-  * Searching Nystagmus+  * Searching nystagmus
   * Abnormal pupil reponses    * Abnormal pupil reponses 
   * "oculodigital sign"- digital eye pressure to induce retinal response   * "oculodigital sign"- digital eye pressure to induce retinal response
-  * Initially normal fundus appearance followed by pigmentary changes in the retina, vascular attenuation and peripheral pigmentary changes in the retina +  * Fundus appearance:  
 +    * Initially can have normal fundus appearance followed by pigmentary changes in the retina, vascular attenuation and optic nerve pallor. 
     * Bone spicules in macula and periphery      * Bone spicules in macula and periphery 
     * Loss of retinal lamination and photoreceptor loss      * Loss of retinal lamination and photoreceptor loss 
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   * Fundus appearance    * Fundus appearance 
     * may be normal      * may be normal 
-    * Vessel attenuation, disc pallor, mild peripheral retinal pigmentation+    * Vessel attenuation, disc pallor, peripheral retinal pigmentation
   * ERG is undetectable    * ERG is undetectable 
 ====Differential Dx==== ====Differential Dx====
-  * Unordered List Item +  * [[achromatopsia|Achromatopsia]] 
-====Pathophysiology==== +  * [[congenital_stationary_night_blindness|Congenital Stationary Night Blindness]] 
 +  * [[retinitis_pigmentosa|Retinitis Pigmentosa]] 
 +  * Idiopathic Nystagmus Syndrome  
 +====Pathogenesis==== 
 +  * 70% of patients have a known genetic variant io one of the following genes that preferentially are expressed in the retina or RPE 
 +  * Autosomal Recessive 
 +    * AIPL1, ALMS1, CEP290, CRB1 (photoreceptor cell structure), GUCY2D (Protein trafficking), IMPDH1, LCA5, LRAT (visual cycle function), MERTK, RD3 ,RDH12, RPGRIP1, RPE65 (visual cycle function), SPATA7, KCNJ13, ICQB1, NMNAT1, and TULP1 
 +  * Autosomal Dominant: CRX - photoreceptor cell development
 ====Treatment==== ====Treatment====
 +===RPE65 Mutations=== 
 +  * Gene replacement therapy with [[https://luxturna.com|Luxturna]] (vortigene neparvovec-rzyl) 
 +    * Adeno-associated virus vector administered subretinally 
 ====Resources==== ====Resources====
   - [[https://www.clinicalkey.com/#!/content/book/3-s2.0-B9780702082986000457#hl0000826|Taylor and Hoyt chapter 46. Leger congenital amaurosis.]]   - [[https://www.clinicalkey.com/#!/content/book/3-s2.0-B9780702082986000457#hl0000826|Taylor and Hoyt chapter 46. Leger congenital amaurosis.]]
  
 {{tag>inherited_retinal_disease retina}} {{tag>inherited_retinal_disease retina}}