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| leber_congenital_amaurosis [2025/11/25 18:04] – [Treatment] Scott Larson | leber_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 | + | * Searching |
| * Abnormal pupil reponses | * Abnormal pupil reponses | ||
| * " | * " | ||
| - | * Initially normal fundus appearance followed by pigmentary changes in the retina, vascular attenuation and peripheral pigmentary changes in the retina | + | |
| + | | ||
| * 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 | ||
| Line 21: | Line 21: | ||
| * ERG is undetectable | * ERG is undetectable | ||
| ====Differential Dx==== | ====Differential Dx==== | ||
| - | * Unordered List Item | + | * [[achromatopsia|Achromatopsia]] |
| + | * [[congenital_stationary_night_blindness|Congenital Stationary Night Blindness]] | ||
| + | * [[retinitis_pigmentosa|Retinitis Pigmentosa]] | ||
| + | * Idiopathic Nystagmus Syndrome | ||
| ====Pathogenesis==== | ====Pathogenesis==== | ||
| * 70% of patients have a known genetic variant io one of the following genes that preferentially are expressed in the retina or RPE | * 70% of patients have a known genetic variant io one of the following genes that preferentially are expressed in the retina or RPE | ||
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| ====Treatment==== | ====Treatment==== | ||
| ===RPE65 Mutations=== | ===RPE65 Mutations=== | ||
| - | * Gene replacement therapy with [[luxturna.com|Luxturna]] (vortigene neparvovec-rzyl) | + | * Gene replacement therapy with [[https://luxturna.com|Luxturna]] (vortigene neparvovec-rzyl) |
| + | * Adeno-associated virus vector administered subretinally | ||
| ====Resources==== | ====Resources==== | ||
| - [[https:// | - [[https:// | ||
| {{tag> | {{tag> | ||