COSEGREGATION OF OPEN-ANGLE GLAUCOMA AND THE NAIL-PATELLA SYNDROME

PURPOSE: To evaluate two families ascertained only for the presence of glaucoma in which both nail patella syndrome and glaucoma occur in se veral generations and to determine whether the two diseases are geneti cally related. METHODS: Ophthalmologic examinations and orthopedic exa minations were performed. DNA samples from family members were screene d with a microsatellite repeat marker at: the argininosuccinate synthe tase (ASS) locus at 9q34, and linkage analysis was performed, RESULTS: Sir: patients with open angle glaucoma were found among 13 patients w ith nail-patella syndrome in family UM:47. Seven patients with glaucom a were found among II patients with naif patella syndrome in family UM :65, In both families, all individuals with glaucoma also had nail-pat ella syndrome, Two-point linkage analysis resulted in a lod score of 2 .98 at a recombination fraction of 0.00 for open-angle glaucoma and na il-patella syndrome, CONCLUSIONS: Linkage results presented here provi de strong evidence that the orthopedic and nail anomalies in these two families result from the same nail-patella syndrome locus that has be en previously linked to markers at 9q34. These data provide indirect e vidence for a possible glaucoma locus at 9q34 and do not allow us to d istinguish whether the glaucoma is the result of the nail-patella synd rome mutation or whether there is a separate locus responsible for gla ucoma in these families, These studies suggest a need for ophthalmolog ic examination of individuals with nail patella syndrome.