Oligocone Trichromacy:: Clinical and Molecular Genetic Investigations

Mette Klindt Andersen; Nynne L.B. Christoffersen; Birgit Agnes Sander; Carsten Edmund; Michael Larsen; Tanja Grau; Bernd Wissinger; Susanne Kohl; Thomas Rosenberg

doi:10.1167/iovs.09-3988

Oligocone Trichromacy: Clinical and Molecular Genetic Investigations

Mette Klindt Andersen, Nynne L.B. Christoffersen, Birgit Agnes Sander, Carsten Edmund, Michael Larsen, Tanja Grau, Bernd Wissinger, Susanne Kohl, Thomas Rosenberg

19 Citationer (Scopus)

Abstract

PURPOSE: To describe the phenotype and genotype of patients with a diagnosis of oligocone trichromacy (OT). METHODS: Six unrelated patients had a detailed ophthalmic examination including color vision testing, a Goldmann visual field test, fundus photography, and full-field electroretinography (ffERG). Five patients also underwent multifocal (mf)ERG, autofluorescence recording, and optical coherence tomography (OCT). Genetic analysis included sequencing of all coding regions and flanking introns of CNGA3, CNGB3, GNAT2, KCNV2, and PDE6C. RESULTS: All patients had subnormal visual acuity, a history of congenital nystagmus, and subjectively normal or near-normal color vision; five patients reported photophobia. Clinical examinations revealed largely normal fundi, normal Goldmann visual field results with the IV/4e target, and normal color discrimination or mild color vision deficiency. Electrophysiological investigations showed either complete absence of recordable cone responses or severely reduced amplitudes. All retinal layers were identifiable by OCT, which also showed thinning of the peripheral retina. Genetic analysis revealed two causative CNGB3 mutations in one patient and single heterozygous mutations of unknown significance in CNGB3 and PDE6C in two other patients. CONCLUSIONS: Oligocone trichromacy is a heterogeneous condition with respect to both phenotypic appearance and genetic background. The finding of mutations in genes known to be involved in complete and incomplete achromatopsia supports the notion that some forms of OT is an extreme form of incomplete achromatopsia with preferential loss of peripheral cones.

Originalsprog	Engelsk
Tidsskrift	Investigative Ophthalmology & Visual Science
Vol/bind	51
Udgave nummer	1
Sider (fra-til)	89-95
Antal sider	7
ISSN	0146-0404
DOI	https://doi.org/10.1167/iovs.09-3988
Status	Udgivet - jan. 2010

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10.1167/iovs.09-3988

https://iovs.arvojournals.org/data/journals/iovs/933452/z7g00110000089.pdf

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@article{d423aa5088cb11df928f000ea68e967b,

title = "Oligocone Trichromacy:: Clinical and Molecular Genetic Investigations",

abstract = "PURPOSE: To describe the phenotype and genotype of patients with a diagnosis of oligocone trichromacy (OT). METHODS: Six unrelated patients had a detailed ophthalmic examination including color vision testing, a Goldmann visual field test, fundus photography, and full-field electroretinography (ffERG). Five patients also underwent multifocal (mf)ERG, autofluorescence recording, and optical coherence tomography (OCT). Genetic analysis included sequencing of all coding regions and flanking introns of CNGA3, CNGB3, GNAT2, KCNV2, and PDE6C. RESULTS: All patients had subnormal visual acuity, a history of congenital nystagmus, and subjectively normal or near-normal color vision; five patients reported photophobia. Clinical examinations revealed largely normal fundi, normal Goldmann visual field results with the IV/4e target, and normal color discrimination or mild color vision deficiency. Electrophysiological investigations showed either complete absence of recordable cone responses or severely reduced amplitudes. All retinal layers were identifiable by OCT, which also showed thinning of the peripheral retina. Genetic analysis revealed two causative CNGB3 mutations in one patient and single heterozygous mutations of unknown significance in CNGB3 and PDE6C in two other patients. CONCLUSIONS: Oligocone trichromacy is a heterogeneous condition with respect to both phenotypic appearance and genetic background. The finding of mutations in genes known to be involved in complete and incomplete achromatopsia supports the notion that some forms of OT is an extreme form of incomplete achromatopsia with preferential loss of peripheral cones.",

author = "Andersen, {Mette Klindt} and Christoffersen, {Nynne L.B.} and Sander, {Birgit Agnes} and Carsten Edmund and Michael Larsen and Tanja Grau and Bernd Wissinger and Susanne Kohl and Thomas Rosenberg",

note = "Keywords: Adult; Child; Color Perception Tests; Color Vision; Color Vision Defects; Cyclic Nucleotide Phosphodiesterases, Type 6; Cyclic Nucleotide-Gated Cation Channels; DNA Mutational Analysis; Electroretinography; Eye Diseases, Hereditary; Eye Proteins; Female; Fluorescein Angiography; GTP-Binding Protein alpha Subunit, Gi2; Genotype; Humans; Male; Middle Aged; Nystagmus, Congenital; Phenotype; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Potassium Channels, Voltage-Gated; Retinal Cone Photoreceptor Cells; Retinal Diseases; Tomography, Optical Coherence; Visual Acuity; Visual Fields",

year = "2010",

month = jan,

doi = "10.1167/iovs.09-3988",

language = "English",

volume = "51",

pages = "89--95",

journal = "Investigative Ophthalmology & Visual Science",

issn = "0146-0404",

publisher = "Association for Research in Vision and Ophthalmology",

number = "1",

}

TY - JOUR

T1 - Oligocone Trichromacy:

T2 - Clinical and Molecular Genetic Investigations

AU - Andersen, Mette Klindt

AU - Christoffersen, Nynne L.B.

AU - Sander, Birgit Agnes

AU - Edmund, Carsten

AU - Larsen, Michael

AU - Grau, Tanja

AU - Wissinger, Bernd

AU - Kohl, Susanne

AU - Rosenberg, Thomas

N1 - Keywords: Adult; Child; Color Perception Tests; Color Vision; Color Vision Defects; Cyclic Nucleotide Phosphodiesterases, Type 6; Cyclic Nucleotide-Gated Cation Channels; DNA Mutational Analysis; Electroretinography; Eye Diseases, Hereditary; Eye Proteins; Female; Fluorescein Angiography; GTP-Binding Protein alpha Subunit, Gi2; Genotype; Humans; Male; Middle Aged; Nystagmus, Congenital; Phenotype; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Potassium Channels, Voltage-Gated; Retinal Cone Photoreceptor Cells; Retinal Diseases; Tomography, Optical Coherence; Visual Acuity; Visual Fields

PY - 2010/1

Y1 - 2010/1

N2 - PURPOSE: To describe the phenotype and genotype of patients with a diagnosis of oligocone trichromacy (OT). METHODS: Six unrelated patients had a detailed ophthalmic examination including color vision testing, a Goldmann visual field test, fundus photography, and full-field electroretinography (ffERG). Five patients also underwent multifocal (mf)ERG, autofluorescence recording, and optical coherence tomography (OCT). Genetic analysis included sequencing of all coding regions and flanking introns of CNGA3, CNGB3, GNAT2, KCNV2, and PDE6C. RESULTS: All patients had subnormal visual acuity, a history of congenital nystagmus, and subjectively normal or near-normal color vision; five patients reported photophobia. Clinical examinations revealed largely normal fundi, normal Goldmann visual field results with the IV/4e target, and normal color discrimination or mild color vision deficiency. Electrophysiological investigations showed either complete absence of recordable cone responses or severely reduced amplitudes. All retinal layers were identifiable by OCT, which also showed thinning of the peripheral retina. Genetic analysis revealed two causative CNGB3 mutations in one patient and single heterozygous mutations of unknown significance in CNGB3 and PDE6C in two other patients. CONCLUSIONS: Oligocone trichromacy is a heterogeneous condition with respect to both phenotypic appearance and genetic background. The finding of mutations in genes known to be involved in complete and incomplete achromatopsia supports the notion that some forms of OT is an extreme form of incomplete achromatopsia with preferential loss of peripheral cones.

AB - PURPOSE: To describe the phenotype and genotype of patients with a diagnosis of oligocone trichromacy (OT). METHODS: Six unrelated patients had a detailed ophthalmic examination including color vision testing, a Goldmann visual field test, fundus photography, and full-field electroretinography (ffERG). Five patients also underwent multifocal (mf)ERG, autofluorescence recording, and optical coherence tomography (OCT). Genetic analysis included sequencing of all coding regions and flanking introns of CNGA3, CNGB3, GNAT2, KCNV2, and PDE6C. RESULTS: All patients had subnormal visual acuity, a history of congenital nystagmus, and subjectively normal or near-normal color vision; five patients reported photophobia. Clinical examinations revealed largely normal fundi, normal Goldmann visual field results with the IV/4e target, and normal color discrimination or mild color vision deficiency. Electrophysiological investigations showed either complete absence of recordable cone responses or severely reduced amplitudes. All retinal layers were identifiable by OCT, which also showed thinning of the peripheral retina. Genetic analysis revealed two causative CNGB3 mutations in one patient and single heterozygous mutations of unknown significance in CNGB3 and PDE6C in two other patients. CONCLUSIONS: Oligocone trichromacy is a heterogeneous condition with respect to both phenotypic appearance and genetic background. The finding of mutations in genes known to be involved in complete and incomplete achromatopsia supports the notion that some forms of OT is an extreme form of incomplete achromatopsia with preferential loss of peripheral cones.

U2 - 10.1167/iovs.09-3988

DO - 10.1167/iovs.09-3988

M3 - Journal article

C2 - 19797231

SN - 0146-0404

VL - 51

SP - 89

EP - 95

JO - Investigative Ophthalmology & Visual Science

JF - Investigative Ophthalmology & Visual Science

IS - 1

ER -

Oligocone Trichromacy: Clinical and Molecular Genetic Investigations

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