Leber congenital amaurosis (LCA)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Leber congenital amaurosis (LCA). This is a taporetinal degeneration. Fully referenced neurology checklist.
Genetics
- This is a taporetinal degeneration
- It accounts for 5% of inherited retinal dystrophies
- There are 22 LCA gene mutations
Frequent genetic mutations
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Ophthalmic features
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Other features
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Differential diagnosis: other inherited retinal dystrophies (IRD)
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Differential diagnosis: others
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Investigations
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Treatment
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References
- Chacon-Camacho OF, Zenteno JC. Review and update on the molecular basis of Leber congenital amaurosis. World J Clin Cases 2015; 3:112-124.
- Perrault I, Rozet JM, Gerber S, et al. Leber congenital amaurosis. Mol Genet Metab 1999; 68:200-208.
- Perrault I, Rozet JM, Gerber S, et al. Spectrum of retGC1 mutations in Leber's congenital amaurosis. Eur J Hum Genet 2000; 8:578-582.
- Jacobson SG, Cideciyan AV, Sumaroka A, et al. Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis caused by GUCY2D Mutations. Am J Ophthalmol 2017; pii: S0002-9394(17)30059-4 (Epub ahead of print).
- Greenwald SH, Charette JR, Staniszewska M, et al. Mouse models of NMNAT1-Leber congenital amaurosis (LCA9) recapitulate key features of the human disease. Am J Pathol 2016; 186:1925-1938.
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