Disease #01647 (LCA2 (Leber congenital amaurosis, type 2 (LCA-2)), OMIM:204100)

Official abbreviation LCA2
Name Leber congenital amaurosis, type 2 (LCA-2)
OMIM ID 204100
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 29
Phenotype entries for this disease 29
Associated with 1 gene RPE65
Associated tissues -
Disease features -
Remarks -


Individuals

29 entries on 1 page. Showing entries 1 - 29.
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00024941 - - - M yes India Indian - 0 - - LCA2 - RPE65 RPE65 2 1 Kannabiran C
00208832 RPCR-II-1 - 1 generation- 1 affected (F) F ? Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 2 1 Bailey Glen
00208833 RPCR-III-1 - 2 generations- 1 affected (M), mother- confirmed carrier, father- inferred carrier M no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 2 1 Bailey Glen
00208836 RPCR-VI-1 - 2 generations- 3 affected, child- (M), both parents affected M no Costa Rica - - 0 - none LCA2 20/400 OD, 20/1200 OS, nyctalopia, no nystagmus, flat ERG - RPE65, USH2A 2 1 Bailey Glen
00208852 RPCR-IV-1 - 1 generations- 1 affected (F) F no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 2 1 Bailey Glen
00208853 RPCR-V-1 - 1 generation- 1 affected (F) F no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG RPE65 RPE65 2 1 Bailey Glen
00208854 RPCR-VIII-1 - 2 generations- 3 affected 2(F), mother is affected F no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 2 3 Bailey Glen
00208855 RPCR-VIII-2 - 2 generations- 3 affected 2(F), mother affected F no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, ERG flat - RPE65 1 3 Bailey Glen
00208856 RPCR-IX-1 - 2 generations- 2 affected 1(M) and 1(F), mother confirmed carrier M no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 2 2 Bailey Glen
00208857 RPCR-IX-2 - 2 generations- 2 affected 1(M) and 1(F), mother confirmed carrier F no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 2 2 Bailey Glen
00208858 RPCR-X-1 - 1 generation- 1 affected (F) F no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 2 1 Bailey Glen
00208859 RPCR-XI-1 - 2 generations- 1 affected (F), 2 confirmed carrier parents F no Costa Rica - - 0 - none LCA2 Poor vision, onset as infant, flat ERG - RPE65 1 1 Bailey Glen
00208860 RPCR-XIII-1 - 2 generations- 1 affected (M), mother confirmed carrier M no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 2 1 Bailey Glen
00208861 RPCR-XIV-1 - 2 generations- 1(F) and 1(M), both parents are confirmed carriers F no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 1 2 Bailey Glen
00208862 RPCR-XIV-2 - 2 generations- 1(F) and 1(M), both parents are confirmed carriers, this patient was also diagnosed with Ushers syndrome, parents are unknown carriers- no sequencing done for USH2A for parents M no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65, USH2A 3 2 Bailey Glen
00208863 RPCR-XV-1 - 1 generation- 1 (M) M no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 1 1 Bailey Glen
00208864 RPCR-XVI-1 - 1 generation- 1(M), both parents confirmed heterozygous carriers M no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 2 1 Bailey Glen
00208865 RPCR-XVII-1 - 2 generations- 2 affected 1(F) and 1(M), both parents are confirmed heterozygotes F no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 2 2 Bailey Glen
00208866 RPCR-XVII-2 - 2 generations- 2 affected 1(F) and 1(M), both parents are confirmed heterozygotes M no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 2 2 Bailey Glen
00208867 RPCR-XVIII-1 - 1 generation- 1 affected 1(F) F no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 2 1 Bailey Glen
00208868 RPCR-XIX-1 - 1 generation- 1 affected 1(M), mother is confirmed heterozygous carrier, also diagnosed with Ushers - parents unknown carrier status - sequencing was done only on RPE65 for the parents M no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65, USH2A 4 1 Bailey Glen
00208869 RPCR-XXI-1 - 2 generation- 2 affected 1(M) and 1(F), both parents are confirmed heterozygous carriers, this Female child is also a confirmed carrier for Ushers F no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65, USH2A 2 2 Bailey Glen
00208870 RPCR-XXI-2 - 2 generation- 2 affected 1(M) and 1(F), both parents are confirmed heterozygous carriers M no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 1 2 Bailey Glen
00208871 RPCR-XXII-1 - 2 generations- 2 affected 2(F), parents are confirmed heterozygous carriers F no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 1 2 Bailey Glen
00208872 RPCR-XXII-2 - 2 generations- 2 affected 2(F), parents are confirmed heterozygous carriers F no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 1 2 Bailey Glen
00208873 RPCR-XXIII-1 - 2 generations- 1 affected (F), parents are confirmed heterozygous carriers F no Costa Rica - - 0 - none LCA2 poor vision, onset as infant, flat ERG - RPE65 1 1 Bailey Glen
00382135 90 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - 0 - - LCA2 retinal dystrophy; MIM, 204000 GUCY2D GUCY2D 1 1 LOVD
00382136 261 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - 0 - - LCA2 retinal dystrophy; MIM, 204100 or 613794 RPE65 RPE65 1 1 LOVD
00382151 251 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - 0 - - LCA2 Oculocutaneous albinism and others; MIM, 203200 OCA2 OCA2 1 1 LOVD
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