These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Does acute loss of vision in autosomal dominant optic atrophy occur early in childhood?
    Author: Kearns LS, Forrest M, Cohn AC, Churchill AJ, Mackey DA.
    Journal: Ophthalmic Genet; 2010 Mar; 31(1):44-6. PubMed ID: 20141358.
    Abstract:
    PURPOSE: In contrast to Autosomal dominant optic atrophy (ADOA), acute loss of vision is normally observed in Leber's hereditary optic neuropathy (LHON) patients. We present a case of a young child with ADOA with a confirmed OPA1 mutation who appeared to have had an acute visual loss in the third year of life. METHODS: Differentiating between ADOA and LHON requires careful documentation of visual symptoms, family history, clinical examination and genetic testing if available. CONCLUSIONS: This clarifies the clinical diagnosis, ensuring appropriate genetic counselling is provided so that affected individuals are accurately informed on inheritance patterns and implications for family members.
    [Abstract] [Full Text] [Related] [New Search]