OCULAR FINDINGS IN THE LAURENCE-MOON-BARDET-BIEDL SYNDROME

Purpose: To improve the description of the ocular part of the Laurence -Moon-Bardet-Biedl syndrome. Methods: We examined 44 Scandinavian indi viduals who all had retinal dystrophy plus at least 2 more of the trad itional cardinal signs of the syndrome: obesity, hypogenitalism, polyd actyly and mental retardation. Results: Full-field electroretinograms were obtained in 36 of the individuals and were abnormal in all. The d ark adaptation thresholds were elevated by on average 3.5 log units. S ymptoms of night blindness were observed at a mean age of 4 years and visual problems at daytime at 6-7 years. No one exceeding the age of 1 6 had a best corrected visual acuity of more than 0.1. In the fundus a ttenuated vessels were noted at all ages while macular pigmentations a nd a wax-pale optic disc appeared at age 6-7 years. Pigmentary changes in the midperiphery were noted at the earliest at 13 years of age and appeared mainly as bone spicules, however, in a minority of cases the pigmentations were atypical. Ten of the participants had been followe d through a period of 9 years. Their visual acuity was reduced by on a verage 0.3 line (decimals) and the angle of visual fields by approxima te 3 degrees (Goldmann standard object V:4e) per year through the adol escence. Conclusion: The ocular disease in Laurence-Moon-Bardet-Biedl syndrome presents early, the prognosis for visual function is poor and the fundus features are atypical and varying.