ArticleAmerican journal of human genetics1999
Homozygosity mapping of the Achromatopsia locus in the Pingelapese.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 53 citations in OpenAlex.
- Gene Therapy for Achromatopsia.International journal of molecular sciences · 2024Review
- Biology, Pathobiology and Gene Therapy of CNG Channel-Related Retinopathies.Biomedicines · 2023Review
- Naturally-occurring myopia and loss of cone function in a sheep model of achromatopsia.Scientific reports · 2020Article
- Generation of Nonhuman Primate Model of Cone Dysfunction throughMolecular therapy. Methods & clinical development · 2020Article
- Blinded by the light: a nonhuman primate model of achromatopsia.The Journal of clinical investigation · 2019Article
- Utilizing Zebrafish Visual Behaviors in Drug Screening for Retinal Degeneration.International journal of molecular sciences · 2017Review
- Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia.Molecular therapy : the journal of the American Society of Gene Therapy · 2015Article
- Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutation.Documenta ophthalmologica. Advances in ophthalmology · 2014Article
- Article
- Gene therapy rescues cone function in congenital achromatopsia.Human molecular genetics · 2010Article
- The cone dysfunction syndromes.The British journal of ophthalmology · 2004Review
- Pingelapese achromatopsia: correlation between paradoxical pupillary response and clinical features.The British journal of ophthalmology · 2004Article
- Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).The British journal of ophthalmology · 2003Article
- CNGA3 mutations in hereditary cone photoreceptor disorders.American journal of human genetics · 2001Article
- Phototransduction in transgenic mice after targeted deletion of the rod transducin alpha -subunit.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Achromatopsia, or total color blindness (also referred to as "rod monochromacy"), is a severe retinal disorder characterized clinically by an inability to distinguish colors, impaired visual acuity in daylight, photophobia, and nystagmus. Inherited as an autosomal recessive trait, achromatopsia is rare in the general population (1:20,000-1:50,000). Among the Pingelapese people of the Eastern Caroline Islands, however, the disorder occurs at an extremely high frequency, as recounted in Oliver Sacks's popular book The Island of the Colorblind: 4%-10% of this island population have the disorder and approximately 30% carry the gene. This extraordinary enrichment of the disease allele most likely resulted from a sharp reduction in population in the late 18th century, in the aftermath of a typhoon and subsequent geographic and cultural isolation. To obtain insights into the genetic basis of achromatopsia, as well as into the genetic history of this region of Micronesia, a genomewide search for linkage was performed in three Pingelapese kindreds with achromatopsia. A two-step search was used with a DNA pooling strategy, followed by genotyping of individual family members. Genetic markers that displayed a shift toward homozygosity in the affected DNA pool were used to genotype individual members of the kindreds, and an achromatopsia locus was identified on 8q21-q22. A maximal multipoint LOD score of 9.5 was observed with marker D8S1707. Homozygosity was seen for three adjacent markers (D8S275, D8S1119, and D8S1707), whereas recombination was observed with the flanking markers D8S1757 and D8S270, defining the outer boundaries of the disease-gene locus that spans a distance of <6.5cM.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.