Sestre Milosrdnice University hospital and Institute of Clinical Medical Research
Abstract
In the past century, research into the prevalence of congenital glaucoma among the Mune and Brgud villagers showed that glaucoma was present in 38% of the population. Genealogical studies established the presence of congenital glaucoma through six generations of the villagers. Tradition has it that members of the Šori family have diseased eyes from time immemorial and that other families have through generations been linked to this family, in a repeated circle of conjugal relationships. From the considerable documentation collected, it appears that approximately 50% of the population are genetically linked to the central Šori family. In this group, about half of the offspring show symptoms of this congenital disease. Clinical characteristics of the Mune-Brgud congenital glaucoma are similar to those of the late congenital glaucoma. It is caused by a congenital anomaly of the iridocorneal angle, and is clinically manifested between the age of 10 and 40. It is characterized by goniodysgenesis and high insertion of the iris, remnants of undifferentiated mesodermal embryonic tissue, widening of the trabecular meshwork, decreased aqueous outflow, and regularly present markedly deep anterior chamber. Megalocornea, hypoplasia of the corneal stroma and moderate myopia are present sporadically.U prošlom stoljeću su istraživanja učestalosti kongenitalnog glaukoma kod stanovnika naselja Mune i Brguda pokazala kako je glaukom bio prisutan u 38% ove populacije. Genealoškim ispitivanjem utvrđeno je da se prisutnost kongenitalnog glaukoma prati kroz šest naraštaja stanovnika. Predaja govori kako su članovi obitelji Šori od davnina imali bolesne oči te da su druge obitelji kroz naraštaje bile vezane uz obitelj Šori kroz opetovani krug bračnih veza. Iz obilne sakupljene dokumentacije proizlazi da je oko 50% populacije ovih sela genetski vezano za središnju obitelj Šori. U toj skupini prosječno polovica potomstva pokazuje simptome ove nasljedne bolesti. Kliničke značajke kongenitalnog glaukoma Mune-Brgud slične su onima kod kasnog kongenitalnog glaukoma. Glaukom Mune-Brgud uzrokovan je kongenitalnom anomalijom u iridokornealnom kutu i klinički se očituje u dobi od 10. do 40. godine života. Obilježava ga goniodisgeneza i visoka insercija šarenice, ostatak nediferenciranog embrijskog mezodermalnog tkiva, prošireni trabekulum, smanjeno istjecanje sobne vodice i redovito prisutna izrazito duboka prednja sobica. Megalokornea, hipoplazija rožnične strome i umjerena miopija su rijetko prisutne
