Abstract
Abstract: :
Purpose: To present a pedigree (three consecutive generations with morphological findings) in 3 patients. Methods: The routine ophthalmological exam was performed in five patients of a family (grand-mother, mother and three boys). Three members (mother and two boys) presented PPD. In these patients, the following additional exams were performed: echobiometry, keratometry, keratoesthesiometry, specular microscopy and counting of endothelial cells and genetic study. Results: The mother and two boys presented: 1. deep opacities on the corneal stroma and nodules or blister-like lesions on Descemet´s membrane 2. multiple iris strands on the corneal periphery (sectorial prominent Schwalbe´s line) 3. ellipsoid corneal appearance (horizontal corneal diameter greater than the vertical) 4. congenital cataract (two boys) 5. diminished corneal sensitivity 6. endothelial hypocellularity, polimegatism and pleomorphism 7. attenuated sclerocorneal sulcus (two boys) 8. retinal pigment epithelium dystrophy 9. normal genetic study. The mother (31 year-old) who is pseudophakic (LE ) presented microcornea (11 x 8.5) and the same corneal and retinal changes. Her RE (no light perception) was eviscerated in 1992 due to a corneal staphyloma and proptosis. Conclusion: The association of PPD, Axenfeld´s anomaly, cataract and retinal dystrophy in the same family in two consecutive generations (autossomic dominant trait?) is very rare. We did not find this combination in the literature.
Keywords: 371 cornea: endothelium • 420 genetics • 447 iris