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Title: Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer

Kjer type autosomal dominant optic atrophy was reported to have a prevalence of 1:50,000 and is therefore the most common form of familial optic atrophy. Age at onset and chronic progressive course were used as subclassification criteria by Kjer, Jaeger, and Smith, stating that almost all cases manifested subacutely before 8 years of age. Typically, tritan color defects and small paracentral scotomas are found together with both variable reduction of visual acuity, of approximately 0.3/0.1, and a temporal pallor on fundoscopy. Pathologically the retinal ganglion cells are affected, resulting in a progressive degeneration of the optic nerve. 12 refs., 1 fig., 1 tab.
Authors:
; ;  [1]
  1. Univ. Hospital Duesseldorf (Germany) [and others
Publication Date:
OSTI Identifier:
237457
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Human Genetics; Journal Volume: 57; Journal Issue: 4; Other Information: PBD: Oct 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 3; GENETIC MAPPING; GENES; GENE MUTATIONS; SENSE ORGANS DISEASES; AGE DEPENDENCE; PATIENTS; HEREDITARY DISEASES; CUBA; DOMINANT MUTATIONS; GENETICS; STATISTICS