Table 1.
Summary of subject demographics, genetic results and clinical characteristics of the 31 patients with biallelic pathogenic variants in CRB1.
| Family Number | Subject | Gender | Ethnicity | Age | Phenotype | Zygosity | Variant 1 cDNA Variant 1 Protein |
Variant 1 cDNA Variant 1 Protein |
FH |
|---|---|---|---|---|---|---|---|---|---|
| 3760 | 01 | M | Asian–Pakistani | 37 | RP | Homozygous | c.2536G>A p.Gly846Arg | 1a | |
| 16291 | 02 | M | White | 31 | EOSRD/LCA | Compound Heterozygous |
c.2290C>T p.Arg764Cys |
c.2401A>T p.Lys801Ter |
1a |
| 20059 | 03 | M | Unknown | 53 | EOSRD/LCA | Homozygous | c.1831T>C p.Ser611Pro | 1b | |
| 24835 | 04 | M | White | 24 | EOSRD/LCA | Compound Heterozygous |
c.2129A>T p.Glu710Val |
c.3988del p.Glu1330Serfs*11 |
1b |
| 24839 | 05 | M | Unknown | 47 | MD | Compound Heterozygous |
c.498_506del p.Ile167_Gly169del |
c.584G>Tp.Ile167_Gly169del | 1a |
| 19331 | 06 | F | Unknown | 23 | EOSRD/LCA | Compound Heterozygous |
c.2843G>A p.Cys948Tyr |
c.1712A>C p.Glu571Ala |
1a |
| 17595 | 07 | M | Unknown | 19 | EOSRD/LCA | Compound Heterozygous |
c.2043T>A p.Cys681Ter |
c.2843G>A p.Cys948Tyr |
1b |
| 1826 | 08 | M | White | 52 | EOSRD/LCA | Compound Heterozygous |
c.2129A>T p.Glu710Val |
c.2843G>A p.Cys948Tyr |
1a |
| 2824 | 09 | M | White | 24 | EOSRD/LCA | Compound Heterozygous |
c.2129A>T p.Glu710Val |
c.2234C>T p.Thr745Met | 1a |
| 2824 | 10 | F | White | 17 | EOSRD/LCA | Compound Heterozygous |
c.455G>A p.Cys152Tyr |
c.3014A>T p.Asp1005Val |
1a |
| 20745 | 11 | M | Black | 19 | EOSRD/LCA | Compound Heterozygous |
c.988+1G>T N/A |
c.1183G>T p.Glu395Ter |
1a |
| 30437 | 12 | M | Unknown | 9 | EOSRD/LCA | Compound Heterozygous |
c.2843G>A p.Cys948Tyr |
c.1712A>C p.Glu571Ala |
1b |
| 24605 | 13 | M | Unknown | 12 | MD | Compound Heterozygous |
c.2234C>T p.Thr745Met |
c.2506C>A p.Pro836Thr |
1a |
| 26081 | 14 | F | Black | 38 | MD | Compound Heterozygous |
c.2506C>A p.Pro836Thr |
Del exon 6 | 1a |
| 3642 | 15 | M | Unknown | 36 | EOSRD/LCA | Homozygous | c.750T>G p.Cys250Trp | 1b | |
| 4441 | 16 | M | White | 40 | RP | Homozygous | c.2639A>G p.Asn880Ser | 1a | |
| 11201 | 17 | M | White | 76 | MD | Compound Heterozygous |
c.253T>C p.Cys85Arg |
c.4009_4015del p.Ala1337Thrfs*2 |
1a |
| 20409 | 18 | M | Unknown | 36 | MD | Compound Heterozygous |
c.584G>T | c.2843G>A p.Cys948Tyr |
1a |
| 4441 | 19 | M | White | 61 | CORD | Homozygous | c.2639A>Gp.N880S | 1a | |
| 4441 | 20 | M | White | 28 | MD | Compound Heterozygous |
c.498_506del p.Ile167_Gly169del |
c.2688T>A p.Cys896Ter |
1a |
| Z413096 | 21 | F | Unknown | 11 | MD | Homozygous | c.2506C>Ap.Pro836Thr | No | |
| Z889804 | 22 | F | Unknown | 13 | CORD | Compound Heterozygous |
c.498_506del p.Ile167_Gly169del |
c.4005 + 1G>A N/A |
No |
| 29543 | 23 | F | Unknown | 42 | MD | Compound Heterozygous |
c.2234C>T p.Thr745Met |
c.1690G>A p.Asp564Asn |
No |
| 16429 | 24 | M | White | 33 | EOSRD/LCA | Homozygous | c.2843G>Ap.Cys948Tyr | No | |
| 28566 | 25 | F | Unknown | 11 | MD | Compound Heterozygous |
c.498_506del p.Ile167_Gly169del |
c.2843G>A p.Cys948Tyr |
No |
| 17311 | 26 | M | Unknown | 40 | MD | Compound Heterozygous |
c.498_506del p.Ile167_Gly169del |
c.1431delG | No |
| 19403 | 27 | F | White | 39 | EOSRD/LCA | Compound Heterozygous |
c.4006-1G>T N/A |
c.2308G>A p.Gly770Ser |
No |
| 20736 | 28 | F | White | 16 | EOSRD/LCA | Compound Heterozygous |
c.2548G>A p.Gly850Ser |
c.4006-10A>G | No |
| 4441 | 29 | F | White | 46 | CORD | Homozygous | c.2639A>Gp.Asn880Ser | No | |
| 22771 | 30 | M | White | 38 | MD | Compound Heterozygous |
c.498_506del p.Ile167_Gly169del |
c.4142C>G p.Pro1381Arg |
No |
| 24139 | 31 | M | Other | 17 | MD | Compound Heterozygous |
c.498_506del p.Ile167_Gly169del |
c.2308G>T p.Gly770Cys |
No |
EOSRD, early-onset severe retinal dystrophy; LCA, Leber congenital amaurosis; RP, retinitis pigmentosa; MD, macular dystrophy; CORD, cone-rod dystrophy.