[Hereditary juvenile dystrophy of the macula in a large family from Epirus] (Journal article)

Kitsos, G./ Cote, G. B./ Kalogero-Poulos, C./ Psilas, K.

The authors present a clinical, epidemiologic and genetic study of juvenile macular dystrophy (Stargardt's disease) in a large kindred from Epirus in Greece. The family tree consists of 372 individuals spanning six generations over more than a century. 257 are direct descendants of the founding couple. Nineteen individuals were found to suffer from Stargardt's disease, thirteen of whom are still alive today. Segregation analysis of the data showed that in this pedigree, the disease is transmitted with the autosomal dominant mode of inheritance.
Institution and School/Department of submitter: Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής
Keywords: Adolescent,Adult,Aged,Child,Child, Preschool,Color Perception,Corneal Dystrophies, Hereditary/*genetics,Female,Greece,Humans,Infant,Infant, Newborn,Macula Lutea,Male,Middle Aged,Pedigree,Visual Acuity
URI: https://olympias.lib.uoi.gr/jspui/handle/123456789/21257
ISSN: 0181-5512
Link: http://www.ncbi.nlm.nih.gov/pubmed/2638364
Appears in Collections:Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά)

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