Table 3 of
Dong, Mol Vis 2013; 19:2426-2435.
Table 3. The clinical features of patients of the two families.
Familial number | Patient number | Age | Onset age of NB | BCV (OD/OS) | Cataract | Fundus apperence* | Visual Field | ERG | PRPF31 mutation |
---|---|---|---|---|---|---|---|---|---|
RP24 | III-1 | 71 | C | NLP/NLP | YES | NA | NA | NA | INDEL |
IV-2 | 41 | C | 0.2/0.3 | YES | YES | Constriction,central 20 degrees | Undetectable | INDEL | |
III-3 | 59 | C | HM/HM | YES | YES | Constriction,central 10 degrees | Undetectable | INDEL | |
IV-4 | 34 | C | 0.6/0.5 | NO | YES | Constriction,central 30 degrees | Undetectable | INDEL | |
IV-5 | 22 | C | 0.7/0.8 | NO | YES | Constriction,central 30 degrees | Undetectable | INDEL | |
III-5 | 54 | C | HM/HM | YES | YES | Constriction,central 15 degrees | NA | INDEL | |
IV-6 | 29 | C | 0.4/0.1 | YES | YES | Constriction,central 20 degrees | NA | INDEL | |
III-6 | 49 | C | 0.1/0.1 | YES | YES | Constriction,central 15 degrees | NA | INDEL | |
RP106 | II-1 | 64 | C | 0.1/0.2 | YES | YES | NA | NA | p.G405fs+7X |
III-1 | 40 | C | 0.2/0.01 | YES | YES | Constriction,central 20 degrees | Undetectable | p.G405fs+7X | |
III-3 | 32 | C | 0.4/0.3 | YES | YES | Constriction,central 30 degrees | Undetectable | p.G405fs+7X | |
II-3 | 60 | C | 0.1/0.1 | YES | YES | NA | NA | p.G405fs+7X | |
III-6 | 33 | NO | 1.2/1.2 | NO | NO | Normal | Normal | p.G405fs+7X | |
IV-3 | 9 | C | 0.8/0.8 | NO | YES | NA | Undetectable | p.G405fs+7X |