Nail-patella syndrome and its association with glaucoma: a review of eight families.
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.


OBJECTIVE
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.


CONCLUSIONS
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.
Mimiwati
Z
Z
Department of Ophthalmology, Eye Research, University of Melbourne, Victoria 3002, Australia.
Mackey
D A
DA
Craig
J E
JE
Mackinnon
J R
JR
Rait
J L
JL
Liebelt
J E
JE
Ayala-Lugo
R
R
Vollrath
D
D
Richards
J E
JE
D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D002648:Child; D005260:Female; D005901:Glaucoma / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D060850:LIM-Homeodomain Proteins; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009261:Nail-Patella Syndrome / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D014157:Transcription Factors / Q000235:genetics
D018398:Homeodomain Proteins; C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors