Table 2
Mutations in FZD4 gene and the associated clinical findings
| Family | Individual/ age(years)/sex | Sequence change | Visual acuity | Symptoms | Ectopic macula | Retinal exudate | Peripheral non-perfusion | Retinal hole | Retinal detachment | Falciform retinal fold | Vitreous opacity/membrane |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifications are referable to Figure 1. | |||||||||||
| *Findings on the other eyes were not available because of corneal opacity and/or cataract associated with chronic total retinal atrophy. LP = light perception; NLP = no light perception. | |||||||||||
| 1 | II:2/47/M | M105V | Normal, both eyes | No | No | No | Both eyes | No | No | No | No |
| III:1/4/M (proband) | M105V | 0.08 Right eye; LP left eye | Both eyes | Right eye | Both eyes | Both eyes | No | No | Left eye | Both eyes | |
| 2 | II:2/50/M | R417Q | NLP right eye; 1.0 left eye | Right eye | No* | No* | Left eye* | No* | Chronic, atrophic, right eye | No* | Right eye* |
| III:1/18/M (proband) | R417Q | 0.05 Right eye; NLP left eye | Both eyes | Right eye* | Right eye* | Right eye* | Right eye* | Chronic, atrophic, left eye | Right eye* | Both eyes | |
| III:2/16/F | R417Q | 1.0 Both eyes | No | No | No | Both eyes | No | No | No | No | |
| 3 | I:1/46/F | R417Q | 0.3 Right eye; 1.0 left eye | Right eye | No | No | Both eyes | No | No | No | Right eye |
| II:1/21/F (proband) | R417Q | LP right eye; 0.9 left eye | Right eye | No | Right eye | Both eyes | Left eye | Exudative, right eye | No | No | |
| II:3/22/M | R417Q | 1.5 Both eyes | No | No | No | Both eyes | No | No | No | Both eyes | |
| III:1/0/M | R417Q | Fix, follow both eyes | No | No | No | Both eyes | No | No | No | Both eyes | |
| 4 | I:1/31/F | G488D | Normal both eyes | No | No | No | Right eye | Right eye | No | No | No |
| II:1/1 /M (proband) | G488D | LP both eyes | Both eyes | Both eyes | No | Both eyes | No | No | Both eyes | Right eye | |
| 5 | II:1/1/F (proband) | W319X | LP both eyes | Both eyes | Left eye* | No* | Left eye* | No* | Chronic, atrophic, right eye | Left eye* | Left eye* |
