Table 1
Ophthalmic findings in 22 UK Cohen syndrome patients
| Latest | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Patient | Age (years) | Onset of visual problems | VR | VL | Myopia | Refraction (D) (if known) | Anterior segment | Fundus | Onset of nyctalopia | ERG |
| 1 | 3 years | 1 year | 6/9 | 6/9 | Y | – | NAD | Bull’s eye maculopathy | – | Normal age 1.5 years |
| 2 | 4 years | 2 years | 6/6 | 6/6 | Y | – | NAD | Bull’s eye maculopathy | 4 years | Attenuated age 3 years |
| 3 | 4 years | 2 years | 6/9 | 6/9 | Y | −7.5/−3.5 × 180 −7.5/−2.5 × 150 | NAD | Myopic fundus | – | Extinguished age 4 years |
| 4 | 4 years | 1 year | – | Y | −9 | NAD | Generalised pigmentary retinopathy | – | Not done | |
| 5 | 5 years | 6 months | 6/9 | 6/9 | Y | −1/+0.75 × 100 −2.25/+1 × 80 | NAD | Bull’s eye maculopathy | 2 years | Markedly attenuated age 2 years |
| 6 | 6 years | 18 months | 6/12 | 6/12 | Y | – | NAD | Bull’s eye maculopathy+ disc pallor | 4 years | Extinguished in dark adapted state age 3.5 years |
| 7 | 7 years | 18 months | 6/12 | 6/12 | Y | −2/−4.25 × 110 −2.5/−4 × 180 | NAD | Bull’s eye maculopathy+ disc pallor | 5 years | Extinguished age 4 years |
| 8 | 7 years | 6 months | 6/18 | 6/18 | Y | −12.5/−2 × 180 −12.5/−2 × 180 | NAD | Generalised pigmentary retinopathy Optic nerve pallor | 3 years | Markedly attenuated age 5 years |
| 9 | 9 years | 4 years | 6/18 | 6/18 | Y | −5/−4.5 × 180 −4.5/−3 × 180 | NAD | Generalised pigmentary retinopathy | 4 years | Not done |
| 10 | 10 years | <5 years | 6/9 | 6/9 | Y | – | NAD | Generalised pigmentary retinopathy Optic nerve pallor | – | Markedly attenuated |
| 11 | 15 years | 10 years | 6/24 | 6/24 | Y | −11.5/+5 × 90 −11/+5 × 97 | NAD | Generalised pigmentary retinopathy | – | Markedly attenuated age 15 years |
| 12 | 15 years | 3 years | 6/36 | 6/24 | Y | −3/+0.25 × 90 −0.25 | NAD | Retina within normal limits Optic nerve pallor | – | Extinguished age 15 years |
| 13 | 16 years | 15 years | 6/24 | 6/9 | Y | – | NAD | Retina within normal limits Optic nerve pallor | – | Markedly attenuated age 15 years |
| 14 | 16 years | 3 years | 6/12 | 6/36 | Y | −7/−4.5 × 10 −8/−4 × 165 | NAD | Generalised pigmentary retinopathy + disc pallor | 5 years | Extinguished age 7 years |
| 15 | 17 years | 4 years | 6/18 | 6/24 | Y | NAD | Patchy pigmentary retinopathy | 6 years | Extinguished age 17 years | |
| 16 | 17 years | 7 years | 6/12 | 6/12 | Y | – | NAD | Generalised pigmentary retinopathy | 7 years | Extinguished age 16 years |
| 17 | 19 years | 4 years | 6/60 | 6/60 | Y | −8.5/+3.5 × 120 −10/+4.5 × 75 | NAD | Generalised pigmentary retinopathy Bilateral retinal coloboma | Extinguished age 16 years | |
| 18 | 22 years | 2 years | 6/24 | 6/60 | Y | – | – | Generalised pigmentary retinopathy Optic nerve pallor | 10 years | Extinguished age 9 years |
| 19 | 34 years | <3 years | 6/18 | 6/36 | Y | – | Raised intraocular pressure age 34 years | Generalised pigmentary retinopathy Retinal detachment age 34 | – | Extinguished age 27 years |
| 20 | 42 years | 18 months | – | Y | – | Atrophic irides | Generalised pigmentary retinopathy Optic nerve pallor | – | Extinguished age 35 years | |
| 21 | 46 years | 15 years | 6/36 | 6/60 | Y | (Pre op) | Lens subluxation | Generalised pigmentary retinopathy | – | Extinguished age 30 years |
| −17/+4.5 × 85 | Keratoconus | |||||||||
| −18/+2.5 × 85 | Bilateral cataracts age 42 years | |||||||||
| 22 | 53 years | <5 years | 6/36 | 6/36 | Y | (Pre op) | Bilateral cataracts age 50 years | Generalised pigmentary retinopathy | 20 years | Not done |
| −14.50/+4.25 × 110 | ||||||||||
| −14/+3 × 80 | ||||||||||
