Leber congenital amaurosis is a rare inherited eye disease that appears at birth or in the first few months of life. It affects about 1 in 40,000 newborns. The condition was first described by Theodor Leber in the 19th century, and it should not be confused with Leber's hereditary optic neuropathy, a different disease also described by Theodor Leber. One form of the condition was successfully treated with gene therapy in 2008. The Wikipedia lead is short, so this record is deliberately brief and the specific genes, mechanisms and range of forms are left to a later depth pass.
Facts
Classification
ICD-10 ChapterVII: Diseases of the Eye and Adnexa 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Prevalence Band Sources
1. Leber congenital amaurosis (Wikipedia)
Lead, first sentenceQuote, Lead, first sentence
a rare inherited eye disease that appears at birth or in the first few months of life
2. Orphadata (Orphanet): Orphadata cross-references for ORPHA:65 Leber congenital amaurosis
Orphadata (Orphanet)ICD-10 cross-referenceQuote, ICD-10 cross-reference
"Reference": "H35.5", "Source": "ICD-10"
3. MedlinePlus Genetics (U.S. National Library of Medicine): Leber congenital amaurosis - MedlinePlus Genetics
MedlinePlus Genetics (U.S. National Library of Medicine)Description and InheritanceQuote, Description and Inheritance
The condition is typically inherited in an autosomal recessive pattern , which means both copies of the gene in each cell must have a pathogenic variant to cause the disorder.
4. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:65Quote, ORPHA:65
Point prevalence Class only 1-9 / 100 000
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