Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease

Marina Kniazeva, Michael F. Chiang, Garry R Cutting, Donald J Zack, Min Han, Kang Zhang

Research output: Contribution to journalArticle

Abstract

Cone-rod dystrophy (CORD) and Stargardt disease (STGD) are two hereditary retinal dystrophies with similarities to age-related macular degeneration. Cone-rod dystrophies are a group of degenerative disorders resulting in decreased visual acuity and color vision, attenuated electroretinographic (ERG) responses, and atrophic macular lesions. Autosomal dominant, autosomal recessive, and X-linked forms of cone-rod dystrophy have been reported. Stargardt disease is characterized by reduced visual acuity, atrophic macular changes, prominent 'flavimaculatus flecks' in the pigment epithelium of the posterior retina, and a virtually pathognomic 'dark choroid' pattern on fluorescein angiography. Stargardt disease is classically inherited as an autosomal recessive trait, although numerous families have been described in which features of Stargardt disease are transmitted in an autosomal dominant manner. We have identified a new kindred with autosomal dominant cone-rod dystrophy with features of Stargardt-like disease. Detailed clinical evaluation, genotype analysis, and linkage analysis were performed. Fluorescein angiography revealed a 'dark choroid' pattern in three affected subjects. Electroretinography disclosed markedly reduced scotopic and photopic responses in three affected individuals. Genetic analysis revealed linkage to known loci for cone-rod dystrophy (CORD7) and Stargardt-like disease (STGD3) on chromosome 6q14. A peak lod score of 3.3 was obtained with the marker D6S280 at θ = 0.010. A physical map was constructed by screening a YAC library with short tandem repeat markers in the region. Screening of a candidate gene, the rho1 subunit of the GABA receptor, failed to reveal any mutations.

Original languageEnglish (US)
Pages (from-to)71-81
Number of pages11
JournalOphthalmic Genetics
Volume20
Issue number2
StatePublished - 1999

Fingerprint

Choroid
Fluorescein Angiography
Visual Acuity
Retinal Dystrophies
Lod Score
Electroretinography
Color Vision
Genetic Linkage
Macular Degeneration
Microsatellite Repeats
Libraries
Retina
Cone-Rod Dystrophies
Clinical Studies
Stargardt disease 1
Retinal Cone Dystrophy 1
Epithelium
Chromosomes
Genotype
Mutation

Keywords

  • Cone-rod dystrophy
  • Linkage analysis
  • Macular degeneration
  • Retina
  • Stargardt disease

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

Cite this

Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease. / Kniazeva, Marina; Chiang, Michael F.; Cutting, Garry R; Zack, Donald J; Han, Min; Zhang, Kang.

In: Ophthalmic Genetics, Vol. 20, No. 2, 1999, p. 71-81.

Research output: Contribution to journalArticle

@article{b872d5d1b2cc4a5d83158be908a22e4a,
title = "Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease",
abstract = "Cone-rod dystrophy (CORD) and Stargardt disease (STGD) are two hereditary retinal dystrophies with similarities to age-related macular degeneration. Cone-rod dystrophies are a group of degenerative disorders resulting in decreased visual acuity and color vision, attenuated electroretinographic (ERG) responses, and atrophic macular lesions. Autosomal dominant, autosomal recessive, and X-linked forms of cone-rod dystrophy have been reported. Stargardt disease is characterized by reduced visual acuity, atrophic macular changes, prominent 'flavimaculatus flecks' in the pigment epithelium of the posterior retina, and a virtually pathognomic 'dark choroid' pattern on fluorescein angiography. Stargardt disease is classically inherited as an autosomal recessive trait, although numerous families have been described in which features of Stargardt disease are transmitted in an autosomal dominant manner. We have identified a new kindred with autosomal dominant cone-rod dystrophy with features of Stargardt-like disease. Detailed clinical evaluation, genotype analysis, and linkage analysis were performed. Fluorescein angiography revealed a 'dark choroid' pattern in three affected subjects. Electroretinography disclosed markedly reduced scotopic and photopic responses in three affected individuals. Genetic analysis revealed linkage to known loci for cone-rod dystrophy (CORD7) and Stargardt-like disease (STGD3) on chromosome 6q14. A peak lod score of 3.3 was obtained with the marker D6S280 at θ = 0.010. A physical map was constructed by screening a YAC library with short tandem repeat markers in the region. Screening of a candidate gene, the rho1 subunit of the GABA receptor, failed to reveal any mutations.",
keywords = "Cone-rod dystrophy, Linkage analysis, Macular degeneration, Retina, Stargardt disease",
author = "Marina Kniazeva and Chiang, {Michael F.} and Cutting, {Garry R} and Zack, {Donald J} and Min Han and Kang Zhang",
year = "1999",
language = "English (US)",
volume = "20",
pages = "71--81",
journal = "Ophthalmic Genetics",
issn = "1381-6810",
publisher = "Aeolus Press",
number = "2",

}

TY - JOUR

T1 - Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease

AU - Kniazeva, Marina

AU - Chiang, Michael F.

AU - Cutting, Garry R

AU - Zack, Donald J

AU - Han, Min

AU - Zhang, Kang

PY - 1999

Y1 - 1999

N2 - Cone-rod dystrophy (CORD) and Stargardt disease (STGD) are two hereditary retinal dystrophies with similarities to age-related macular degeneration. Cone-rod dystrophies are a group of degenerative disorders resulting in decreased visual acuity and color vision, attenuated electroretinographic (ERG) responses, and atrophic macular lesions. Autosomal dominant, autosomal recessive, and X-linked forms of cone-rod dystrophy have been reported. Stargardt disease is characterized by reduced visual acuity, atrophic macular changes, prominent 'flavimaculatus flecks' in the pigment epithelium of the posterior retina, and a virtually pathognomic 'dark choroid' pattern on fluorescein angiography. Stargardt disease is classically inherited as an autosomal recessive trait, although numerous families have been described in which features of Stargardt disease are transmitted in an autosomal dominant manner. We have identified a new kindred with autosomal dominant cone-rod dystrophy with features of Stargardt-like disease. Detailed clinical evaluation, genotype analysis, and linkage analysis were performed. Fluorescein angiography revealed a 'dark choroid' pattern in three affected subjects. Electroretinography disclosed markedly reduced scotopic and photopic responses in three affected individuals. Genetic analysis revealed linkage to known loci for cone-rod dystrophy (CORD7) and Stargardt-like disease (STGD3) on chromosome 6q14. A peak lod score of 3.3 was obtained with the marker D6S280 at θ = 0.010. A physical map was constructed by screening a YAC library with short tandem repeat markers in the region. Screening of a candidate gene, the rho1 subunit of the GABA receptor, failed to reveal any mutations.

AB - Cone-rod dystrophy (CORD) and Stargardt disease (STGD) are two hereditary retinal dystrophies with similarities to age-related macular degeneration. Cone-rod dystrophies are a group of degenerative disorders resulting in decreased visual acuity and color vision, attenuated electroretinographic (ERG) responses, and atrophic macular lesions. Autosomal dominant, autosomal recessive, and X-linked forms of cone-rod dystrophy have been reported. Stargardt disease is characterized by reduced visual acuity, atrophic macular changes, prominent 'flavimaculatus flecks' in the pigment epithelium of the posterior retina, and a virtually pathognomic 'dark choroid' pattern on fluorescein angiography. Stargardt disease is classically inherited as an autosomal recessive trait, although numerous families have been described in which features of Stargardt disease are transmitted in an autosomal dominant manner. We have identified a new kindred with autosomal dominant cone-rod dystrophy with features of Stargardt-like disease. Detailed clinical evaluation, genotype analysis, and linkage analysis were performed. Fluorescein angiography revealed a 'dark choroid' pattern in three affected subjects. Electroretinography disclosed markedly reduced scotopic and photopic responses in three affected individuals. Genetic analysis revealed linkage to known loci for cone-rod dystrophy (CORD7) and Stargardt-like disease (STGD3) on chromosome 6q14. A peak lod score of 3.3 was obtained with the marker D6S280 at θ = 0.010. A physical map was constructed by screening a YAC library with short tandem repeat markers in the region. Screening of a candidate gene, the rho1 subunit of the GABA receptor, failed to reveal any mutations.

KW - Cone-rod dystrophy

KW - Linkage analysis

KW - Macular degeneration

KW - Retina

KW - Stargardt disease

UR - http://www.scopus.com/inward/record.url?scp=0032781322&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0032781322&partnerID=8YFLogxK

M3 - Article

C2 - 10420191

AN - SCOPUS:0032781322

VL - 20

SP - 71

EP - 81

JO - Ophthalmic Genetics

JF - Ophthalmic Genetics

SN - 1381-6810

IS - 2

ER -