Table 2. CRB1 mutations identified in four families with retinitis pigmentosa and Leber congenital amaurosis.
| Family Number | Clinical Diagnosis | Allele 1 Exon Nucleotide 1 Protein 1 | Allele 2 Exon Nucleotide 2 Protein 2 | Sex | Age(y) | Onset age (yrs) | Visual acuity (corrected) R eye L eye | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family 1 |
RP |
Exon 9 |
c.3460T>A* |
p.C1154S* |
Exon 12 |
c.4207G>C* |
p.E1403Q* |
M |
35 |
25 |
0.3 |
0.1 |
| Family 2 |
LCA |
Exon 6 |
c.1831T>C |
p.S611P |
Exon 9 |
c.3059delT* |
p.M1020SfsX1* |
M |
7 |
<1 |
0.01 |
0.01 |
| Family 3 |
LCA |
Exon 6 |
c.1576C>T |
p.R526X |
Exon 7 |
c.2234C>T |
p.T745M |
F |
24 |
1 |
0.05 |
FC |
| Family 4 | LCA | Exon 6 | c.1429G>A | p.G477R | Exon 6 | c.1576C>T | p.R526X | M | 22 | childhood | 0.02 | 0.02 |
* Novel mutation FC means finger counting.