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| leber_congenital_amaurosis [2025/11/12 15:25] – 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==== |
| + | * Congenital or Early infancy non-syndromic retinal blindness | ||
| + | * Searching nystagmus | ||
| + | * Abnormal pupil reponses | ||
| + | * " | ||
| + | * 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 | ||
| + | * Loss of retinal lamination and photoreceptor loss | ||
| + | * Exudative type retinopathy in CRB1-assoicated disease | ||
| + | * RPE65-related disease usually has milder peripheral RPE mottling and white dots | ||
| + | * Disc drusen or pseudopapilledema | ||
| + | ====Distinguishing Features===== | ||
| + | * Severe visual impairment from birth or first few months of life | ||
| + | * Fundus appearance | ||
| + | * may be normal | ||
| + | * Vessel attenuation, | ||
| + | * ERG is undetectable | ||
| + | ====Differential Dx==== | ||
| + | * [[achromatopsia|Achromatopsia]] | ||
| + | * [[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), | ||
| + | * Autosomal Dominant: CRX - photoreceptor cell development | ||
| + | ====Treatment==== | ||
| + | ===RPE65 Mutations=== | ||
| + | * Gene replacement therapy with [[https:// | ||
| + | * Adeno-associated virus vector administered subretinally | ||
| + | ====Resources==== | ||
| + | - [[https:// | ||
| {{tag> | {{tag> | ||