Clinical and genetic characteristics of hereditary diseases and syndromes with glaucoma
Abstract
The article presents the clinical-genetic characteristic of the hereditary diseases, syndromes with glaucoma. Currently known 36 clinical-genetic variants with congenital and juvenile glaucoma. In 72.2% of cases of congenital and juvenile glaucoma combined with pathology of the central nervous system microcephaly and mental retardation. In addition identified patients with skeletal abnormalities, an original structure faces, pathology of the skin, joints, kidneys, heart, gemangiomatoz, granulematoz. The severity and variability of clinical manifestations of hereditary diseases and syndromes with congenital or juvenile glaucoma points to the need for early detection, comprehensive examinations of patients from ophthalmologists, pediatricians, neurologists, orthopedists. Given that 44.4% of cases pathology is inherited autosomal dominant or x-forming dominant need to consult a doctor-genetics of families with congenital and juvenile glaucoma for verification of clinical genetic.
Keywords
врожденная,
глаукома,
заболевания,
наследственные,
синдромы,
ювенильная,
congenital glaucoma,
diseases,
syndromes,
juvenile
About the Authors
O. V. Khlebnikova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
E. L. Dadali
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Khlebnikova O.V., Dadali E.L. Clinical and genetic characteristics of hereditary diseases and syndromes with glaucoma. Medical Genetics. 2017;16(9):3-9. (In Russ.)
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