Leber Congenital Amaurosis

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

RPGRIP1, CRX, CRB1, NMNAT1, RPE65, AIPL1, CEP290, IQCB1, LCA5, SPATA7, TULP1, KCNJ13, LRAT, IMPDH1, RD3, GUCY2D, RDH12, USP45, GDF6, MERTK, IFT140, PCYT1A, MPP5, ABCA4, CLUAP1, USH2A, SLC38A8, CDHR1, GRM6, RP2, AHI1, PDE6A, CNGB3, GIGYF2, ZFYVE26, NR2E3, RGS9, CRB2, LCA10, OTX2, CLTA, PTPRC, MYO7A, CNGA3, CCT2, GUCA1A, PRPH2, IMPG1, CABP4, GUCY2F, SLC7A14, GUCA1B, LPCAT1, HSD17B6, ENO2, CNTLN, PSMD13, PRPH, GUCY2EP, BCL2, MIR204, EGF, SP4, RPGR, NUB1, ADH7, NRL, TUB, ND4, FST, SLC19A2, PRPF8, PNPLA6, CILK1, NINL, SERPINF1, RPGRIP1L, MEF2C, TAP2, MEF2A, ELOVL4, IMPG2, PDE6B

Drugs

9-cis-Retinyl acetate, Adeno-associated viral vector serotype 8 containing the human AIPL1 gene, Adeno-associated viral vector serotype 8 containing the human GUCY2D gene

9-cis-Retinyl acetate, Adeno-associated viral vector serotype 8 containing the human AIPL1 gene, Adeno-associated viral vector serotype 8 containing the human GUCY2D gene, Adeno-associated virus serotype 8 containing the human RdCVF sequence and the human RdCVFL sequence, Adenovirus associated viral vector serotype 4 containing the human RPE65 gene, Adenovirus associated viral vector serotype 5 containing the human RPE65 gene, Adenovirus-associated viral vector serotype 2 containing the human RPE65 gene (AAV2-hRPE65v2 ), Antisense oligonucleotide complementary to the exonic splicer enhancer sequence at intron 26 of the centrosomal protein 290 pre-mRNA, Combination of three adeno-associated viral vectors of serotype 8 containing the 5'-, the body- and the 3'- coding sequences of human CEP290 fused to inteins, Recombinant adeno-associated viral vector serotype 5 encoding Staphylococcus aureus Cas9 endonuclease and two guide RNAs complementary to two regions of intron 26 of the CEP290 gene

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Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina. People with this condition typically have severe visual impairment beginning in infancy. Other features include photophobia, involuntary movements of the eyes (nystagmus), and extreme farsightedness. The pupils also do not react normally to light. Additionally, the cornea may be cone-shaped and abnormally thin (keratoconus). Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger. Different subtypes have been described. The different subtypes are caused by mutations in different genes. Some of these subtypes are also distinguished by their patterns of vision loss and related eye abnormalities. Treatment includes correction farsightedness and use of low-vision aids when possible.