Table 3 of
Gupta, Mol Vis 2022; 28:203-219. Table 3 of
Gupta, Mol Vis 2022; 28:203-219.
Table 3. Phenotypic case characterization.
| Subject | Gene | Inh. | Sex | Age | Phenotype/Comment |
|---|---|---|---|---|---|
| PT1 | ABCA4 | AR | M | 10 | CORDS |
| PT2 | ABCA4 | AR | F | 29 | STGD with Fundus Flavimaculatus |
| PT3 | ABCA4 | AR | M | 33 | STGD, also has an affected sister |
| PT4 | ABCA4 | AR | M | 63 | CORD, also has an IFT140 c.2399+1G>T change (het) |
| PT5 | AIPL1 | AR | M | 26 | COD |
| PT6 | BBS2 | AR | F | 15 | BBS (RP), splice site mutation |
| PT7 | BBS6/MKKS | AR | M | 12 | BBS (RP) |
| PT8 | BBS6/MKKS | AR | M | 16 | BBS (RP) |
| PT9 | BEST1 | AR | F | 49 | Bestrophinopathy - Rod-cone dystrophy ERG with cystoid macular edema and Best's-like EOG, Asymptomatic mother carries the deletion |
| PT10 | BEST1 | AD | F | 10 | Best's vitelliform macular dystrophy, 4 consecutive generations affected including mother on pedigree |
| PT11 | CDH23 | AR | M | 75 | RP with profound congenital SNHL (USH1, cochlear implant) |
| PT12 | CDHR1/ PCDH21 | AR | F | 62 | STGD-like CORD, splice site mutation, mother is unaffected carrier, consanguinity |
| PT13 | CHM | XL | M | 72 | Choroideremia, splice site mutation |
| PT14 | CHM | XL | M | 20 | Choroideremia (mild), mother is clinically overt carrier |
| PT15 | CHM | XL | M | 27 | Choroideremia (mild) - brother of PT14, mother is clinically overt carrier |
| PT16 | CRB1 | AR | F | 14 | PPRPE-RP, A1: splice site mutation |
| PT17 | EYS | AR | M | 33 | RP |
| PT18 | EYS | AR | F | 45 | RP, splice site mutation, homozygous for both changes (each parent carries both - consanguinity) |
| PT19 | GPR98/ USH2C | AR | M | 41 | RP with sloping SNHL (USH2) A2: abnormal splicing, mother is unaffected carrier of A2 only |
| PT20 | MERTK | AR | F | 27 | RP w/ monocular macular atrophy |
| PT21 | MYO7A | AR | F | 16 | RP with profound cong SNHL (USH1, cochlear implant) , mother is unaffected carrier of A2 only |
| PT22 | MYO7A | AR | F | 53 | RP with profound cong SNHL (USH1) |