Dominant optic atrophy, type Kjer (McKusick no. 165500) is an autosomal dominant eye
disease. The disease is characterized by moderate to severe visual impairment with an …

Autosomal dominant optic atrophy (OPA, MIM 165500) is an eye disease causing a variable
reduction of visual acuity with an insidious onset in the first six years of life. It is associated …

Autosomal dominant optic atrophy (OPA, MIM 165500) is an eye disease characterised by
variable optic atrophy and reduction in visual acuity. It has an insidious onset in the first …

Sixtytwo patients from three large Danish families with autosomal dominant optic atrophy
were clinically examined, and retrospective followup was made on 30 patients. We found …

Refinement of the OPAI Gene Locus on Chromosome 3q28-q29 to a Region of 2-8 cM, in
One Cuban Pedigree with Autosomal Dominant Optic Atrophy Type Kjer To the Editor: Kjer …

Purpose: To assess the clinical picture and molecular genetics of 14 Finnish families with
dominant optic atrophy (DOA). Methods: The clinical status of family members was based on …

Objectives: To refine the dominant optic atrophy locus, OPA1, on chromosome 3q and to
characterize the phenotype of a 6-generation family pedigree affected with this disease …

METHODS AND RESULTS Using a combined approach of single stranded conformational
polymorphism and heteroduplex analysis, we detected mutations in 57%(20/35) of our …

Objective To evaluate a family with autosomal dominant optic atrophy, which has been
previously linked to the Kidd blood group. Design Clinical evaluation with the assessment of …

Autosomal dominant optic atrophy (ADOA), also known as Kjer disease, is characterized by
moderate to severe loss of visual acuity with an insidious onset in early childhood, blue …