Serdal ÇELEBİ, Orhan AYDEMİR, Şahap KÜKNER, Ahmet BALI, Nihat DİLSİZ

Jüvenil glokomlu bir hastanın aile ağacının incelenmesi

Amaç: Dokuz yaşında jüvenil glokomlu bir olgunun aile ağacı gözden geçirilmiştir. Yöntem: Jüvenil glokomlu olgunun birinci derece yakınlarını içeren üç jenerasyona ait yedi kişi ile ilgili aile öyküsü alınmış ve tüm olgulara ayrıntılı bir oftalmolojik muayene yapılmıştır. Bu olgulardan periferik kan alınarak kromozom incelemesi yapılmıştır. Bulgular: Jüvenil glokomlu olgunun kendisi (proband), bir dayı ve teyzesinde jüvenil glokom, anne ve büyükbabasında primer açık açılı glokom (PAAG), bir dayı ve teyzesinde ise şüpheli jüvenil glokom saptanmıştır. Kromozom incelemesinde bir patoloji belirlenememiştir. Sonuç: Jüvenil glokom olgusuna ait aile ağacında, aile bireylerinin bir kısmında jüvenil glokom, bir kısmında PAAG birlikteliği ve bir kısmında göz içi basıncı normal olan gonyodisgenezis olguları saptanmıştır. Aynı aile ağacında ortak genetik defekte bağlı olduğu düşünülen, ancak farklı fenotipik özellikler gösteren bireylerin varlığı dikkat çekmektedir

The pedigree of a patient with juvenile glaucoma

Purpose: The pedigree of nine year old patient diagnosed with juvenile glaucoma has been evaluated. Materials and Methods: The pedigree of seven members (close relatives of proband's from three generations) was investigated and then clinical examinations were performed. Their blood samples were analysed for chromosomes. Results: From this pedigree, it was found that, two cases had juvenile glaucoma, two cases had primary open angle glaucoma and two cases were suspected to have juvenile glaucoma. There was no significant abnormality in investigated chromosomes. Conclusions: In conclusion, members of the family were thought to have the same genotypic defect were exposed to various phenotypic characters.

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