Clinical findings in patients with mutations in the CRB1 gene
| Family | Mutations in CRB1 gene | Age | Age of onset | Visual field | Visual acuity | Refraction | Fundus | ERG | Other symptoms |
|---|---|---|---|---|---|---|---|---|---|
| M-717 | 47881insG | 52 y | 15 y | <5° | Light perception | Pale papilla | Extinguished | Hyperopia | |
| Constricted arterioles | Nystagmus | ||||||||
| Salt and pepper pigmentation in mid periphery and in posterior pole, more abundant around the macula | |||||||||
| M-69 | Cys948Tyr | 55 y | 1 y | Absolute scotoma | Amaurosis | Difficult to evaluate owing to opacities | Nystagmus | ||
| Cys948Tyr | Dense cataracts | ||||||||
| Microphthalmus | |||||||||
| Corneal leukoma secondary to keratoconus | |||||||||
| M-69 | Cys948Tyr | 48 y | 1 y | Absolute scotoma | Amaurosis | Difficult to evaluate owing to opacities | Nystagmus | ||
| Cys948Tyr | Dense cataracts | ||||||||
| Microphthalmus | |||||||||
| Corneal leukoma secondary to keratoconus | |||||||||
| M-69 | Cys948Tyr | 21 y | 3 y | <5° | 0.1 RE | +2+1.5 100° RE | Bone spicule pigmentation | Extinguished | Nystagmus at 7 mth |
| Ile1100Thr | 0.2 LE | +1.5+1 80° LE | Pale papilla | ||||||
| Constricted arterioles | |||||||||
| M-641 | Cys948Tyr | 11 y | 4 mth | Central scotomae | 0.3 RE | +7.00-2.5 30° RE | Bone spicule pigmentation in periphery | Extinguished | Strabismus |
| 749delSer | 0.1 LE | +7.00-1.00 150°LE | Pale papilla | ||||||
| Constricted arterioles | |||||||||
| PPRPE in temporal periphery | |||||||||
| M-641 | Cys948Tyr | 8 y | 6 mth | Annular scotoma | 0.1 RE | +2.5+2 93° RE | Bone spicule pigmentation in periphery | Extinguished | Congenital nystagmus |
| 749delSer | 0.2 LE | +2+2 98° LE | Pale papilla | ||||||
| Peripheral sensitivity | Constricted arterioles | ||||||||
| PPRPE in temporal periphery | |||||||||
| B-102 | Cys891Gly | 15 y | 4 y | 0.3 RE | Bone spicule pigmentation | Extinguished | Hyperopia | ||
| Ile1100Thr | 0.2 LE | Normal macula | |||||||
| Pale papilla | |||||||||
| Vascular constriction | |||||||||
| B-15 | 962delLeu | 54 y | 13 y | RE: absolute scotoma | 0.3 RE | -0.25-0.25 170° RE | Focal pigmentation in posterior pole | Extinguished | Cataracts |
| 0.2 LE | −0.25–1.25 101° LE | Normal papilla | |||||||
| LE: <5° | Diffuse chorioretinal atrophy | ||||||||
| M-489 | Ile205Thr | 37 y | At birth | Absolute scotoma | Light perception | Bone spicule pigmentation | Extinguished | Nystagmus | |
| Pale papilla | Keratoconus | ||||||||
| Narrow vessels | Franceschetti sign | ||||||||
| M-489 | Ile205Thr | 35 y | At birth | Absolute scotoma | Light perception | Bone spicule pigmentation | Extinguished | Nystagmus | |
| Pale papilla | Franceschetti sign | ||||||||
| Narrow vessels |