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DA Mackey, M Zahari, JE Craig, JR MacKinnon, DL Healey, KM Rattray, JL Rait, JE Richards, R Ayala, D Vollrath; A Review of 8 Families with Nail-Patella Syndrome and its Association with Glaucoma . Invest. Ophthalmol. Vis. Sci. 2002;43(13):3381.
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Purpose: Nail-Patella Syndrome (NPS) is a rare, autosomal dominant syndrome, characterized by dysplasia of the nails, patellae, elbows and iliac horns. Recently mutations in LMX1B gene were identified as responsible for NPS in four familiesin which glaucoma cosegregated with NPS. We wished to investigate the frequency of glaucoma in Australian NPS families. Methods: We reviewed glaucoma pedigrees seen in the Glaucoma Inheritance Study in Tasmania and NPS index cases and pedigrees seen by Genetics Health Services Victoria. From 1,700 glaucoma cases in Tasmania (including 350 pedigrees), 1 family with NPS and glaucoma was identified. A further 20 index cases of NPS were identified from the Genetics Health Services Victoria database. Eight of these pedigrees were available for examination. We performed a comprehensive glaucoma screen (IOP, visual fields and stereo disc photographs) on all available family members. Results: Twenty-two subjects from 8 pedigrees were examined. Twelve individuals had NPS alone. One individual had NPS and glaucoma (GVic131, II:1). Five pedigrees with NPS had a reported family history of glaucoma. Several young NPS patients had unusual shaped discs and enlarged cup-disc ratio but normal IOP and visual fields and were classified as glaucoma suspects. Conclusion: Although only 1 individual that we examined had NPS with confirmed glaucoma, it is not possible to say for certain that others will not develop glaucoma at a later date. Glaucoma is a major concern for families with NPS and thus family members should be screened for glaucoma. Mutation analysis of LMX1B should help clarify the association of glaucoma and NPS.
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