HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

[Atypical presentation of Leber's optic neuropathy].

AbstractBACKGROUND:
Leber's optic neuropathy (LON) is the phenotypic expression of an inherited disorder due to a mitochondrial DNA mutation. Numerous loci of a point mutation in the mitochondrial genome are reported: 3460, 4160, 11778, 14484 and, 15257. Typically visual loss occurs in young males and a positive family history is found. Peripapillary telangiectasias are reported to be diagnostic for the disease and cardiac conduction abnormalities are sometimes present.
PATIENTS:
We present six patients who lost vision in both eyes with neither family history of visual loss, typical fundus abnormalities, nor cardiac abnormalities. All were initially misdiagnosed as either anterior ischemic optic neuropathy, hereditary optic atrophy, thromboembolic disorder, toxic amblyopia, multiple sclerosis, traumatic optic neuropathy, or complicated papilledema.
METHODS AND RESULTS:
Diagnosis was possible in all six cases by mitochondrial DNA studies (five patients with 11778, one with 3460). Magnetic resonance imaging using short-time inversion recovery sequences demonstrated in three tested patients a hyperintense signal within the intraorbital portion of the optic nerve, enhancing after Gadolinium infusion.
CONCLUSION:
Presentation of LON can be atypical, i.e. occurring in a female, at an advanced age, without family history, without retinal telangiectasias, with other fundus findings, or with unilateral visual loss for prolonged period. Diagnosis of LON should be suspected in every patient with atypical visual loss secondary to an optic neuropathy of undetermined etiology and mitochondrial DNA studies should be performed. Magnetic resonance imaging can be helpful in such cases.
AuthorsF X Borruat, M D Sanders
JournalKlinische Monatsblatter fur Augenheilkunde (Klin Monbl Augenheilkd) Vol. 204 Issue 5 Pg. 400-2 (May 1994) ISSN: 0023-2165 [Print] Germany
Vernacular TitlePrésentation atypiques de la neuropathie optique de Leber.
PMID8051882 (Publication Type: English Abstract, Journal Article)
Chemical References
  • DNA, Mitochondrial
Topics
  • Adult
  • DNA, Mitochondrial (genetics)
  • Diagnosis, Differential
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation (genetics)
  • Optic Atrophies, Hereditary (diagnosis, genetics)
  • Optic Nerve (pathology)
  • Phenotype

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: