Familial Optic Atrophy with Negative Electroretinograms

Richard Weleber, Yozo Miyake

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

We describe optic atrophy and abnormal electroretinographic findings in affected members from two families. Central vision failed in the second to third decade of life. Examination findings included visual acuities of 20/20 (1.0) to 20/500 (0.4), defective color vision, mild to moderate myopia, pericentral or centrocecal scotomas, and, in four of five patients, optic atrophy. Dark adaptometry found elevated cone and rod psychophysical thresholds. Bright flash electroretinograms showed normal a-wave amplitude and markedly subnormal b-wave amplitude. Rod responses were low normal to moderately subnormal in amplitude with normal implicit times. Photopic electroretinographic b-wave amplitudes varied from normal to mildly subnormal. Cone implicit times were normal. Because negative electroretinograms are not seen with other familial optic atrophies, the association of optic atrophy with the abnormal negative electroretinogram configuration in these patients represents a newly appreciated genetic disorder.

Original languageEnglish (US)
Pages (from-to)640-645
Number of pages6
JournalArchives of Ophthalmology
Volume110
Issue number5
DOIs
StatePublished - 1992

Fingerprint

Optic Atrophy
Scotoma
Color Vision
Vertebrate Photoreceptor Cells
Inborn Genetic Diseases
Myopia
Visual Acuity
Optic Atrophy with Negative Electroretinograms

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Familial Optic Atrophy with Negative Electroretinograms. / Weleber, Richard; Miyake, Yozo.

In: Archives of Ophthalmology, Vol. 110, No. 5, 1992, p. 640-645.

Research output: Contribution to journalArticle

@article{b20371e7d68f4bde941dde8d74b920e6,
title = "Familial Optic Atrophy with Negative Electroretinograms",
abstract = "We describe optic atrophy and abnormal electroretinographic findings in affected members from two families. Central vision failed in the second to third decade of life. Examination findings included visual acuities of 20/20 (1.0) to 20/500 (0.4), defective color vision, mild to moderate myopia, pericentral or centrocecal scotomas, and, in four of five patients, optic atrophy. Dark adaptometry found elevated cone and rod psychophysical thresholds. Bright flash electroretinograms showed normal a-wave amplitude and markedly subnormal b-wave amplitude. Rod responses were low normal to moderately subnormal in amplitude with normal implicit times. Photopic electroretinographic b-wave amplitudes varied from normal to mildly subnormal. Cone implicit times were normal. Because negative electroretinograms are not seen with other familial optic atrophies, the association of optic atrophy with the abnormal negative electroretinogram configuration in these patients represents a newly appreciated genetic disorder.",
author = "Richard Weleber and Yozo Miyake",
year = "1992",
doi = "10.1001/archopht.1992.01080170062025",
language = "English (US)",
volume = "110",
pages = "640--645",
journal = "JAMA Ophthalmology",
issn = "2168-6165",
publisher = "American Medical Association",
number = "5",

}

TY - JOUR

T1 - Familial Optic Atrophy with Negative Electroretinograms

AU - Weleber, Richard

AU - Miyake, Yozo

PY - 1992

Y1 - 1992

N2 - We describe optic atrophy and abnormal electroretinographic findings in affected members from two families. Central vision failed in the second to third decade of life. Examination findings included visual acuities of 20/20 (1.0) to 20/500 (0.4), defective color vision, mild to moderate myopia, pericentral or centrocecal scotomas, and, in four of five patients, optic atrophy. Dark adaptometry found elevated cone and rod psychophysical thresholds. Bright flash electroretinograms showed normal a-wave amplitude and markedly subnormal b-wave amplitude. Rod responses were low normal to moderately subnormal in amplitude with normal implicit times. Photopic electroretinographic b-wave amplitudes varied from normal to mildly subnormal. Cone implicit times were normal. Because negative electroretinograms are not seen with other familial optic atrophies, the association of optic atrophy with the abnormal negative electroretinogram configuration in these patients represents a newly appreciated genetic disorder.

AB - We describe optic atrophy and abnormal electroretinographic findings in affected members from two families. Central vision failed in the second to third decade of life. Examination findings included visual acuities of 20/20 (1.0) to 20/500 (0.4), defective color vision, mild to moderate myopia, pericentral or centrocecal scotomas, and, in four of five patients, optic atrophy. Dark adaptometry found elevated cone and rod psychophysical thresholds. Bright flash electroretinograms showed normal a-wave amplitude and markedly subnormal b-wave amplitude. Rod responses were low normal to moderately subnormal in amplitude with normal implicit times. Photopic electroretinographic b-wave amplitudes varied from normal to mildly subnormal. Cone implicit times were normal. Because negative electroretinograms are not seen with other familial optic atrophies, the association of optic atrophy with the abnormal negative electroretinogram configuration in these patients represents a newly appreciated genetic disorder.

UR - http://www.scopus.com/inward/record.url?scp=0026633790&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026633790&partnerID=8YFLogxK

U2 - 10.1001/archopht.1992.01080170062025

DO - 10.1001/archopht.1992.01080170062025

M3 - Article

VL - 110

SP - 640

EP - 645

JO - JAMA Ophthalmology

JF - JAMA Ophthalmology

SN - 2168-6165

IS - 5

ER -