Papillitis as an onset sign of Leber's hereditary optic neuropathy

A case report

Chiara Pantaleoni, Stefano D'Arrigo, Irene Bagnasco, Elena Piozzi, Franco Carrara, Vidmer Scaioli, Daria Riva

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Leber's hereditary optic neuropathy is a maternally transmitted disease resulting from a point mutation in mitochondrial (mt) DNA. In this report we describe a case of Leber's disease with typical clinical findings but atypical ophthalmoscopic presentation. A 14-year-old boy developed severe loss of vision acuity in the left eye, with only partial recovery, followed 4 months later by the same symptoms in the right eye. Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye. Polymerase chain reaction analysis of lymphocytic mt-DNA revealed a point mutation at 11 778. Leber's disease should be considered in young patients (not always male) with sudden visual loss and simple papillary involvement at fundoscopic examination but without the typical telangiectatic microangiopathy.

Original languageEnglish
Pages (from-to)125-127
Number of pages3
JournalBrain and Development
Volume23
Issue number2
DOIs
Publication statusPublished - 2001

Fingerprint

Leber's Hereditary Optic Atrophy
Papilledema
Mitochondrial DNA
Point Mutation
Pallor
Optic Disk
Polymerase Chain Reaction

Keywords

  • Leber's hereditary optic neuropathy
  • Mitochondrial DNA
  • Papillitis

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

Cite this

Papillitis as an onset sign of Leber's hereditary optic neuropathy : A case report. / Pantaleoni, Chiara; D'Arrigo, Stefano; Bagnasco, Irene; Piozzi, Elena; Carrara, Franco; Scaioli, Vidmer; Riva, Daria.

In: Brain and Development, Vol. 23, No. 2, 2001, p. 125-127.

Research output: Contribution to journalArticle

Pantaleoni, Chiara ; D'Arrigo, Stefano ; Bagnasco, Irene ; Piozzi, Elena ; Carrara, Franco ; Scaioli, Vidmer ; Riva, Daria. / Papillitis as an onset sign of Leber's hereditary optic neuropathy : A case report. In: Brain and Development. 2001 ; Vol. 23, No. 2. pp. 125-127.
@article{7ecc1dea6c58437b981c98e2b04c8602,
title = "Papillitis as an onset sign of Leber's hereditary optic neuropathy: A case report",
abstract = "Leber's hereditary optic neuropathy is a maternally transmitted disease resulting from a point mutation in mitochondrial (mt) DNA. In this report we describe a case of Leber's disease with typical clinical findings but atypical ophthalmoscopic presentation. A 14-year-old boy developed severe loss of vision acuity in the left eye, with only partial recovery, followed 4 months later by the same symptoms in the right eye. Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye. Polymerase chain reaction analysis of lymphocytic mt-DNA revealed a point mutation at 11 778. Leber's disease should be considered in young patients (not always male) with sudden visual loss and simple papillary involvement at fundoscopic examination but without the typical telangiectatic microangiopathy.",
keywords = "Leber's hereditary optic neuropathy, Mitochondrial DNA, Papillitis",
author = "Chiara Pantaleoni and Stefano D'Arrigo and Irene Bagnasco and Elena Piozzi and Franco Carrara and Vidmer Scaioli and Daria Riva",
year = "2001",
doi = "10.1016/S0387-7604(01)00185-1",
language = "English",
volume = "23",
pages = "125--127",
journal = "Brain and Development",
issn = "0387-7604",
publisher = "Elsevier",
number = "2",

}

TY - JOUR

T1 - Papillitis as an onset sign of Leber's hereditary optic neuropathy

T2 - A case report

AU - Pantaleoni, Chiara

AU - D'Arrigo, Stefano

AU - Bagnasco, Irene

AU - Piozzi, Elena

AU - Carrara, Franco

AU - Scaioli, Vidmer

AU - Riva, Daria

PY - 2001

Y1 - 2001

N2 - Leber's hereditary optic neuropathy is a maternally transmitted disease resulting from a point mutation in mitochondrial (mt) DNA. In this report we describe a case of Leber's disease with typical clinical findings but atypical ophthalmoscopic presentation. A 14-year-old boy developed severe loss of vision acuity in the left eye, with only partial recovery, followed 4 months later by the same symptoms in the right eye. Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye. Polymerase chain reaction analysis of lymphocytic mt-DNA revealed a point mutation at 11 778. Leber's disease should be considered in young patients (not always male) with sudden visual loss and simple papillary involvement at fundoscopic examination but without the typical telangiectatic microangiopathy.

AB - Leber's hereditary optic neuropathy is a maternally transmitted disease resulting from a point mutation in mitochondrial (mt) DNA. In this report we describe a case of Leber's disease with typical clinical findings but atypical ophthalmoscopic presentation. A 14-year-old boy developed severe loss of vision acuity in the left eye, with only partial recovery, followed 4 months later by the same symptoms in the right eye. Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye. Polymerase chain reaction analysis of lymphocytic mt-DNA revealed a point mutation at 11 778. Leber's disease should be considered in young patients (not always male) with sudden visual loss and simple papillary involvement at fundoscopic examination but without the typical telangiectatic microangiopathy.

KW - Leber's hereditary optic neuropathy

KW - Mitochondrial DNA

KW - Papillitis

UR - http://www.scopus.com/inward/record.url?scp=0035116464&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035116464&partnerID=8YFLogxK

U2 - 10.1016/S0387-7604(01)00185-1

DO - 10.1016/S0387-7604(01)00185-1

M3 - Article

VL - 23

SP - 125

EP - 127

JO - Brain and Development

JF - Brain and Development

SN - 0387-7604

IS - 2

ER -