An autosomal dominant optic atrophy: Kjer type

An autosomal dominant optic atrophy: Kjer type

ABSTRACT We present a case of an autosomal dominant optic neuropathy, known as Kjer's disease. The condition can manifest since childhood, presenting with bilateral symmetric optic atrophy and progressive vision loss. Genetics play a crucial role in the differential diagnosis, due to the associ...

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Bibliographic Details
Main Authors: Flavio Mac Cord Medina, Natália Carneiro de Freitas
Format: Article
Language:English
Published: Sociedade Brasileira de Oftalmologia 2025-07-01
Series:Revista Brasileira de Oftalmologia
Subjects:
Optic atrophy, autosomal dominant
Diagnosis differential
Optic nerve diseases
Vision disorders
Blindness
Kjer
OPA-1
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802025000100510&lng=en&tlng=en
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