Leber Congenital Amaurosis 11

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Retrieved

2019-09-22

Source

Omim

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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A number sign (#) is used with this entry because Leber congenital amaurosis-11 (LCA11) is caused by heterozygous mutation in the IMPDH1 gene (146690) on chromosome 7q32.

Heterozygous mutation in the IMPDH1 gene can also cause retinitis pigmentosa-10 (RP10; 180105).

Description

Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).

For a general description and a discussion of genetic heterogeneity of LCA, see 204000.

Clinical Features

Bowne et al. (2006) described 2 unrelated patients with Leber congenital amaurosis. The affected child in 1 family was first seen at 8 months of age when he was diagnosed with LCA and developmental delay with severe hypotonia. He had roving nystagmus with no fixation to light. Macular reflex was present in both eyes with the retina showing diffuse RPE mottling. No pigmentary deposits were present. The affected child in the other family was seen after referral at age 33 months. The parents had noted that the child could not see things in her peripheral vision and could not find her food in dimly lighted conditions. Refractive error was OD +3.50+1.50 x 85, and OS +3.50+1.50 x 95. By Allen cards, her vision was 20/40.

Molecular Genetics

In 2 unrelated patients with Leber congenital amaurosis-11, Bowne et al. (2006) identified heterozygous missense mutations in the IMPDH1 gene (146690.0004 and 146690.0005).