Cosegregation of open-angle glaucoma and the nail-patella syndrome

Am J Ophthalmol. 1997 Oct;124(4):506-15. doi: 10.1016/s0002-9394(14)70866-9.


Purpose: To evaluate two families ascertained only for the presence of glaucoma in which both nail-patella syndrome and glaucoma occur in several generations and to determine whether the two diseases are genetically related.

Methods: Ophthalmologic examinations and orthopedic examinations were performed. DNA samples from family members were screened with a microsatellite repeat marker at the argininosuccinate synthetase (ASS) locus at 9q34, and linkage analysis was performed.

Results: Six patients with open-angle glaucoma were found among 13 patients with nail-patella syndrome in family UM:47. Seven patients with glaucoma were found among 11 patients with nail-patella syndrome in family UM:65. In both families, all individuals with glaucoma also had nail-patella 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 nail-patella syndrome.

Conclusions: Linkage results presented here provide strong evidence that the orthopedic and nail anomalies in these two families result from the same nail-patella syndrome locus that has been previously linked to markers at 9q34. These data provide indirect evidence for a possible glaucoma locus at 9q34 and do not allow us to distinguish whether the glaucoma is the result of the nail-patella syndrome mutation or whether there is a separate locus responsible for glaucoma in these families. These studies suggest a need for ophthalmologic examination of individuals with nail-patella syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Argininosuccinate Synthase / genetics
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 9
  • DNA / genetics
  • Female
  • Genetic Linkage
  • Glaucoma, Open-Angle / complications*
  • Glaucoma, Open-Angle / genetics*
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Nail-Patella Syndrome / complications*
  • Nail-Patella Syndrome / genetics*
  • Pedigree
  • Phenotype


  • DNA
  • Argininosuccinate Synthase