leber congenital amaurosis


Summary: A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.

Top Publications

  1. Charng J, Jacobson S, Heon E, Roman A, McGuigan D, Sheplock R, et al. Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells. Invest Ophthalmol Vis Sci. 2017;58:3215-3224 pubmed publisher
    ..To isolate the melanopic component, we studied patients with severe vision loss due to Leber congenital amaurosis (LCA) caused by gene mutations acting on the outer retina...
  2. Kumaran N, Moore A, Weleber R, Michaelides M. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. Br J Ophthalmol. 2017;101:1147-1154 pubmed publisher
    b>Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic ..
  3. Roger J, Hiriyanna A, Gotoh N, Hao H, Cheng D, Ratnapriya R, et al. OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness. J Clin Invest. 2014;124:631-43 pubmed publisher
    b>Leber congenital amaurosis (LCA) encompasses a set of early-onset blinding diseases that are characterized by vision loss, involuntary eye movement, and nonrecordable electroretinogram (ERG)...
  4. Aboshiha J, Dubis A, van der Spuy J, Nishiguchi K, Cheeseman E, Ayuso C, et al. Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy. Ophthalmology. 2015;122:862-4 pubmed publisher
  5. Wright A. Long-term effects of retinal gene therapy in childhood blindness. N Engl J Med. 2015;372:1954-5 pubmed publisher
  6. Aguirre G, Butt O, Datta R, Roman A, Sumaroka A, Schwartz S, et al. Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene. Invest Ophthalmol Vis Sci. 2017;58:959-973 pubmed publisher
    ..and to relate these findings to the notable preservation of retinal architecture in this form of Leber congenital amaurosis (LCA)...
  7. Jinda W, Taylor T, Suzuki Y, Thongnoppakhun W, Limwongse C, Lertrit P, et al. Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes. Invest Ophthalmol Vis Sci. 2017;58:2413-2420 pubmed publisher
    Our goal was to describe the clinical and molecular genetic findings in Thai patients with Leber congenital amaurosis (LCA). Whole exome sequencing (WES) was performed in eight unrelated patients...
  8. Jacobson S, Cideciyan A, Sumaroka A, Roman A, Charng J, Lu M, et al. Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene. Invest Ophthalmol Vis Sci. 2017;58:2609-2622 pubmed publisher
    To determine efficacy outcome measures for clinical trials of Leber congenital amaurosis (LCA) associated with a common intronic mutation in the CEP290 gene. CEP290-LCA patients (ages 5-48) with the intronic mutation (c...