[Iris-corneal dysgenesis].
This work presents a family, a mother and her 3 daughters, aged: 10 months, 4 years, 5 years with Rieger's anomaly. For children, this anomaly is associated with glaucoma and buphtalmy, this last element is the one that made the family ask for medical assistance and come to the hospital. The study of the disease was done on five generations in the same family, on the mother's line. This revealed that in the mother's family the grand grandmother and her two sisters were blind at an early age (30-40 years old). The presence of the anomaly in many generations proves the genetic transmission of the disease. We have to mention that in the last generation, the most serious appearance was registered at the patient with the earliest age (10 months).
Ignat
Fl
F
Lucrare efectuată în Clinica de Oftalmologie Craiova.
Preda
M
M
Olaru
C
C
D000328:Adult; D002675:Child, Preschool; D003315:Cornea / Q000002:abnormalities*; D005260:Female; D005901:Glaucoma / Q000151:congenital / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities*; D010375:Pedigree