Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus

Archives of Ophthalmology
J A Fleischman, F E O'Donnell

Abstract

Twenty-nine members of a black kindred with congenital X-linked incomplete achromatopsia were examined; nine affected males and seven carrier females were identified. The new findings of importance are the following: (1) this congenital disorder is a slowly progressive abiotrophy, with progressive macular scarring and cone dysfunction, rather than a stationary anomaly; (2) carrier females sometimes can be found by ophthalmoscopic and fluorescein angiographic abnormalities in the macula; and (3) genetic linkage studies give evidence against linkage with the locus for the Xg blood group, but they suggest possible linkage with the glucose-6-phosphate dehydrogenase locus.

Citations

Jun 1, 1991·Ophthalmic Paediatrics and Genetics·C G KeithJ D Chen
Aug 1, 1987·International Ophthalmology·A Pinckers, A F Deutman
Feb 26, 2000·Annual Review of Genetics·A RattnerJ Nathans
Apr 8, 2004·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Ulrich KellnerMichael H Foerster
Nov 3, 2004·Visual Neuroscience·Takaaki HayashiYasuo Ueoka
Oct 1, 1988·Documenta Ophthalmologica. Advances in Ophthalmology·C Verdoorn, A Pinckers
Oct 17, 1998·Eye·M P Simunovic, A T Moore
Jun 10, 2010·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·C M Poloschek, S Kohl
Jul 1, 1989·The British Journal of Ophthalmology·P A GoodS J Crews
Nov 21, 2009·Eye·M P Simunovic
Jan 1, 1992·Survey of Ophthalmology·M A Musarella
Aug 25, 1989·Science·J NathansF Zwas
Jun 29, 2010·American Journal of Human Genetics·Jessica C GardnerAlison J Hardcastle

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.