Leber congenital amaurosis
SaudiVarKB evidence summary derived from retained literature mentions.
25Phenotype mentions
25Publications
34Associated gene records
17Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| RPE65 | HGNC:10294 | 6 | 6 |
| RPGRIP1 | HGNC:13436 | 5 | 5 |
| GUCY2D | HGNC:4689 | 5 | 5 |
| CRB1 | HGNC:2343 | 3 | 3 |
| TULP1 | HGNC:12423 | 2 | 2 |
| ALMS1 | HGNC:428 | 2 | 2 |
| CABP4 | HGNC:1386 | 2 | 2 |
| RDH12 | HGNC:19977 | 2 | 2 |
| SPATA7 | HGNC:20423 | 2 | 2 |
| IFT140 | HGNC:29077 | 1 | 1 |
| CNGA3 | HGNC:2150 | 1 | 1 |
| ATF6 | HGNC:791 | 1 | 1 |
| AR | HGNC:644 | 1 | 1 |
| PMP22 | HGNC:9118 | 1 | 1 |
| LDLR | HGNC:6547 | 1 | 1 |
| IQCB1 | HGNC:28949 | 1 | 1 |
| MYO7A | HGNC:7606 | 1 | 1 |
| RIMS2 | HGNC:17283 | 1 | 1 |
| MERTK | HGNC:7027 | 1 | 1 |
| CEP290 | HGNC:29021 | 1 | 1 |
| KCNJ13 | HGNC:6259 | 1 | 1 |
| ATG2B | HGNC:20187 | 1 | 1 |
| RGR | HGNC:9990 | 1 | 1 |
| RUFY3 | HGNC:30285 | 1 | 1 |
| INSIG1 | HGNC:6083 | 1 | 1 |
| CYP51A1 | HGNC:2649 | 1 | 1 |
| CRX | HGNC:2383 | 1 | 1 |
| PRPH2 | HGNC:9942 | 1 | 1 |
| AIPL1 | HGNC:359 | 1 | 1 |
| LRAT | HGNC:6685 | 1 | 1 |
| IMPDH1 | HGNC:6052 | 1 | 1 |
| RD3 | HGNC:19689 | 1 | 1 |
| LCA5 | HGNC:31923 | 1 | 1 |
| BBS4 | HGNC:969 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.1007delA | c.1007delA | 1 | 1 |
| c.3134del | c.3134del | 1 | 1 |
| p.Leu42Phe | p.Leu42Phe | 1 | 1 |
| p.Asn114His | p.Asn114His | 1 | 1 |
| p.Asp142Gly | p.Asp142Gly | 1 | 1 |
| p.Pro467Ala | p.Pro467Ala | 1 | 1 |
| c.2129C>T | c.2129C>T | 1 | 1 |
| p.Ala710Val | p.Ala710Val | 1 | 1 |
| p.Arg361* | p.Arg361* | 1 | 1 |
| c.497G>A | c.497G>A | 1 | 1 |
| p.Cys166Tyr | p.Cys166Tyr | 1 | 1 |
| c.136C>T | c.136C>T | 1 | 1 |
| p.Arg46* | p.Arg46* | 1 | 1 |
| c.253G>C | c.253G>C | 1 | 1 |
| p.E85Q | p.E85Q | 1 | 1 |
| G253C | G253C | 1 | 1 |
| p.R651X | p.R651X | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 5 | 5 |
| Population record | — | 2 | 2 |
| Saudi Arabia | Cohort 37 | 2 | 2 |
| Saudi Arabia | — | 1 | 1 |
| Population record | Cohort 23 | 1 | 1 |
| Population record | Cohort 2 | 1 | 1 |
| Population record | Cohort 26 | 1 | 1 |
| Population record | Cohort 187 | 1 | 1 |
| Saudi Arabia | Cohort 5 | 1 | 1 |
| Saudi Arabia | Cohort 15 | 1 | 1 |
| Saudi Arabia | Cohort 42 | 1 | 1 |
| Population record | Cohort 212 | 1 | 1 |
Supporting publications
25 records- 2025Gastric mucosal differentially expressed genes after bariatric surgery: Effects on sterol-related pathways.The Journal of steroid biochemistry and molecular biology1 mentions
- 2025Clinical Research for Inherited Retinal Disease Related Pediatric Blindness: A Preliminary Descriptive Analysis Based on ClinicalTrials.gov.Journal of multidisciplinary healthcare1 mentions
- 2025Prevention and early intervention screening for inherited ocular diseases in Saudi Arabia: a national perspective.Frontiers in ophthalmology1 mentions
- 2024Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.Clinical genetics1 mentions
- 2023Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.American journal of medical genetics. Part A1 mentions
- 2021Current Management of Patients with RPE65 Mutation-Associated Inherited Retinal Degenerations in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network.Ophthalmic research1 mentions
- 2019Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine.Experimental eye research1 mentions
- 2019Comprehensive structure-function analysis of causative variants in retinal pigment epithelium specific 65 kDa protein associated Leber Congenital Amaurosis.Non-coding RNA research1 mentions
- 2017Available Evidence on Leber Congenital Amaurosis and Gene Therapy.Seminars in ophthalmology1 mentions
- 2017Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish.Scientific reports1 mentions
- 2016Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation.The British journal of ophthalmology1 mentions
- 2016Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2016Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.Middle East African journal of ophthalmology1 mentions
- 2016Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.BMC medical genetics1 mentions
- 2015Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.Ophthalmic genetics1 mentions
- 2014Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus1 mentions
- 2014Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.The British journal of ophthalmology1 mentions
- 2013The RPGRIP1-related retinal phenotype in children.The British journal of ophthalmology1 mentions
- 2011Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.Human mutation1 mentions
- 2011Exome capture sequencing identifies a novel mutation in BBS4.Molecular vision1 mentions
- 2010A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.Molecular vision1 mentions
- 2010Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.Molecular vision1 mentions
- 2009Mutation survey of known LCA genes and loci in the Saudi Arabian population.Investigative ophthalmology & visual science1 mentions
- 2009Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.American journal of human genetics1 mentions
- 1998A novel locus for Leber congenital amaurosis on chromosome 14q24.Human genetics1 mentions