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Nail-patella syndrome and its association with glaucoma: a review of eight families
  1. Z Mimiwati1,2,
  2. D A Mackey1,4,
  3. J E Craig5,
  4. J R MacKinnon3,
  5. J L Rait,
  6. J E Liebelt6,
  7. R Ayala-Lugo7,
  8. D Vollrath8,
  9. J E Richards7
  1. 1Department of Ophthalmology, Eye Research Australia, University of Melbourne, Victoria, Melbourne, Australia
  2. 2Department of Ophthalmology, University of Malaya Medical Centre, Kuala Lumpur, Malaysia
  3. 3Department of Ophthalmology, Royal Children’s Hospital, Melbourne
  4. 4University of Tasmania, Royal Hobart Hospital, Hobart, Tasmania, Australia
  5. 5Department of Ophthalmology, Flinders Medical Centre, Adelaide, South Australia, Australia
  6. 6South Australian Clinical Genetics Service, Adelaide, Australia
  7. 7Department of Ophthalmology and Visual Sciences, Kellogg Eye Centre, University of Michigan, Ann Arbor, Michigan, USA
  8. 8Departments of Genetics and Ophthalmology, Stanford University, Stanford, California, USA
  1. Correspondence to: D A Mackey Department of Ophthalmology, University of Melbourne, 1/32 Gisborne Street, East Melbourne, Victoria 3002, Australia; D.Mackey{at}


Background: Nail-patella syndrome (NPS) is a rare autosomal dominant syndrome, characterised by dysplasia of the nails, patellae, elbows and iliac horns. Mutations in the LMX1B gene were found in four North American families in whom glaucoma cosegregated with NPS.

Aims: To investigate the association of glaucoma with NPS in Australian families and to determine how common NPS is in Australia.

Methods: One family with NPS and glaucoma was identified from the Glaucoma Inheritance Study in Tasmania. A further 18 index cases of NPS were identified from the genetics database for southeastern Australia. Eight of these pedigrees were available for comprehensive glaucoma examination on available family members. DNA was sequenced for mutations in LMX1B.

Results: In total, 52 living cases of NPS were identified suggesting a minimum prevalence of at least 1 in 100 000. 32 subjects from eight NPS pedigrees (four familial and four sporadic cases) were examined. 14 subjects had NPS alone. 4 subjects had NPS and glaucoma or ocular hypertension. Five pedigrees with NPS had a reported family history of glaucoma, although some of these people with glaucoma did not have NPS. LMX1B mutations were identified in 5 of the 8 index cases—three sporadic and two familial. Two of the six (33%) participants over 40 years of age had developed glaucoma, showing increased risk of glaucoma in NPS.

Conclusion: Patients with NPS should be examined regularly for glaucoma. However, because the families with NPS are ascertained primarily from young probands or probands who are isolated cases, the exact level of risk is unclear.

  • GIST, Glaucoma Inheritance Study in Tasmania
  • IOP, intraocular pressure
  • NPS, nail-patella syndrome
  • OHT, ocular hypertension
  • POAG, primary open-angle glaucoma

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  • Published Online First 6 July 2006

  • Competing interests: None.