Table 1.
Clinical characteristics of 23 patients with Bardet-Biedl Syndrome.
| Case# | Age(yrs.) | Gender | Race | History ofConsanguinity | PresentingSymptoms | BCVA(better-seeing eye) | Refraction(Mean SE) | OphthalmoscopicChanges | RetinalDystrophy | Nystagmus | Strabismus |
| 1 | 6 | M | mixed | N | VA, NV loss | Uncooperative | NA | Uncooperative | rod-cone | Y | Ortho |
| 2 | 8 | M | white | N | VA, NV loss | 20/100 | +7.00 | MA | rod-cone | N | Ortho |
| 3 | 9 | M | mixed | N | VA, NV loss | 20/40 | +11.75 | AV, DP, WRPEA | cone-rod | N | Ortho |
| 4 | 10 | M | white | Y | VA, NV loss | 20/160 | -11.50 | WRPEA | rod-cone | Y | XT |
| 5 | 11 | M | white | N | VA, NV loss | 20/40 | +4.25 | WRPEA | rod-cone | N | Ortho |
| 6 | 11 | M | white | Y | NV, VF loss | 20/125 | +2.25 | AV, DP, WRPEA | rod-cone | N | Ortho |
| 7 | 12 | F | mixed | N | VA, NV, VF loss | 20/125 | +0.50 | WRPEA | rod-cone | N | X(T) |
| 8 | 12 | M | white | N | None | 20/40 | NA | AV, DP, MA | cone-rod | N | Ortho |
| 9* | 12 | M | white | Y | VA, NV, VF loss | 20/40 | -2.50 | AV, WRPEA | rod-cone | N | ET |
| 10 | 13 | F | white | N | NV, VF loss | 20/125 | -0.50 | MA, PP | rod-cone | Y | XT |
| 11 | 14 | M | mixed | Y | VA, NV, VF loss | 20/160 | +4.50 | AV, MA, PP, WRPEA | cone-rod | Y | Ortho |
| 12 | 14 | M | white | Y | VA, NV, VF loss | 20/100 | +2.00 | MA, WRPEA | rod-cone | N | Ortho |
| 13* | 14 | M | white | Y | VA, NV, VF loss | 20/50 | -2.00 | AV, MA | rod-cone | N | ET |
| 14 | 15 | F | white | N | VA, NV, VF loss | 20/80 | -8.50 | AV, MA | rod-cone | N | Ortho |
| 15 | 15 | F | mixed | N | VA, NV loss | 20/125 | NA | WRPEA | rod-cone | N | Ortho |
| 16 | 16 | F | white | Y | VA, NV loss | 20/80 | -9.25 | AV, DP, WRPEA | rod-cone | N | Ortho |
| 17 | 17 | M | black | Y | VA, NV, VF loss | 20/63 | +1.50 | AV, DP, WRPEA | rod-cone | N | Ortho |
| 18 | 17 | F | white | Y | VA, NV, VF loss | 20/125 | -4.75 | AV, DP, MA, WRPEA | rod-cone | N | Ortho |
| 19 | 18 | M | white | N | VA, NV, VF loss | 20/50 | NA | AV, DP, MA, PP, WRPEA | rod-cone | N | Ortho |
| 20 | 19 | M | mixed | Y | NV, VF loss | 20/25 | +2.25 | AV, DP, PP | rod-cone | N | Ortho |
| 21 | 20 | F | white | Y | VA, NV loss | 20/200 | NA | AV, WRPEA | rod-cone | N | Ortho |
| 22 | 28 | M | mixed | N | VA, NV loss | Uncooperative | NA | AV, DP, PP | rod-cone | Y | ET |
| 23 | 36 | F | mixed | N | VA, NV, VF loss | LP | -6.50 | NA | rod-cone | Y | Ortho |
*
brothers from a consanguineous marriage; mixed — black/white; BCVA – best-corrected visual acuity; SE – spherical equivalent; VA – visual acuity; NV – night vision; VF – visual field; NA – not available; MA – macular abnormalities; AV – attenuated vessels; DP – disk pallor; WRPEA – widespread retinal pigmented epithelium abnormalities; PP – peripheral pigmentation; ET – esotropia; XT – exotropia; and X(T) – intermittent exotropia.