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High prevalence of glaucoma in Veli Brgud, Croatia, is caused by a dominantly inherited T377M mutation in the MYOC gene
  1. L Zgaga1,
  2. C Hayward2,
  3. Z Vatavuk3,
  4. G Bencic3,
  5. T Zemunik4,
  6. A Valkovic5,
  7. I Valkovic-Antic5,
  8. K Bucan4,6,
  9. I Rudan4,7,7
  1. 1
    Medical School, University of Zagreb, Zagreb, Croatia
  2. 2
    Human Genetics Unit, Medical Research Council, Edinburgh, UK
  3. 3
    University Hospital “Sestre Milosrdnice,” Zagreb, Croatia
  4. 4
    Croatian Centre for Global Health, Medical School, University of Split, Split, Croatia
  5. 5
    University Hospital Centre, Rijeka, Croatia
  6. 6
    Clinical Hospital Split, Split, Croatia
  7. 7
    Department of Public Health Sciences, University of Edinburgh Medical School, Edinburgh, UK
  1. Dr L Zgaga, School of Public Health “Andrija Stampar,” Medical School, University of Zagreb, Croatia, Rockefellerova 4, 10000 Zagreb, Croatia; lina.zgaga{at}zamir.net

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An unusually high prevalence of early-onset open-angle glaucoma (OAG) in the population of Veli Brgud, Croatia, has been reported in previous studies.1 The most recent population census conducted in this isolated village in the mountains of Istrian peninsula (fig 1) reported a total of 550 inhabitants. Community-based ophthalmological examination was conducted during the 1990s among 536 inhabitants (97.5% of the total population) by the team of ophthalmologists from the University of Rijeka Medical School.1 OAG was diagnosed in 74 persons, and the population prevalence was found to be 13.8%. However, 67 (90%) of the affected individuals were linked to a single, large, nine-generation pedigree, while for the remaining seven persons with OAG, no link to the pedigree could be established. Although the village is isolated with high levels of inbreeding (proportion of consanguineous marriages is 22%), which usually favours the expression of recessive …

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