THE FREQUENCY OF GENETIC EYE DISEASES IN A GENETIC-COUNSELING CENTER

ELCIOGLU N., ELCIOGLU M., FUHRMANN W.

GENETIC COUNSELING, cilt.6, sa.4, ss.329-342, 1995 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 4
  • Basım Tarihi: 1995
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL
  • Sayfa Sayıları: ss.329-342
  • Anahtar Kelimeler: EYE DISEASES, HEREDITARY, GENETIC COUNSELING, POINT MUTATIONS, RETINOBLASTOMA, ETIOLOGY
  • Marmara Üniversitesi Adresli: Hayır

Özet

In this study the incidence of eye diseases of genetic origin in patients attending our genetic counseling center for a period of almost six years is documented, The frequency of retinitis pigmentosa, congenital cataracts, lens dislocation, microphthalmos, retinoblastoma, congenital glaucoma, congenital ptosis, degenerative myopia, strabismus, optic atrophy, various genetic metabolic diseases have been investigated, and the results are presented. Preventive approaches and prenatal diagnostic possibilities are discussed and the importance of genetic counseling is emphasized.