The syndrome of optic nerve hypoplasia.

Current Neurology and Neuroscience Reports
Mark Borchert, Pamela Garcia-Filion

Abstract

The congenital malformation known as optic nerve hypoplasia (ONH) has been recognized in the past 30 years as an epidemic cause of congenital blindness. It was believed to occur either as an isolated anomaly or as a component of the syndrome of septo-optic dysplasia, which has evolved to include midline brain malformations and hypopituitarism. Evidence now suggests that ONH infrequently occurs in isolation. Most afflicted children will have hypothalamic dysfunction and/or neurodevelopmental impairment, regardless of MRI findings or severity of ONH. Adverse outcomes can often be ameliorated with early intervention. Thus, the syndrome of ONH should be suspected in all infants with signs of hypothalamic dysfunction or vision impairment.

References

Jul 1, 1979·American Journal of Diseases of Children·S H LaFranchi
Jun 1, 1977·Developmental Medicine and Child Neurology·J E JanP J MacLeod
Aug 1, 1978·Archives of Ophthalmology·M A MosierD L Knox
Feb 1, 1975·American Journal of Diseases of Children·H PatelC L Dolman
Jan 1, 1976·Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde·J Francois, A D Rouck
Sep 1, 1991·The British Journal of Ophthalmology·S M ZekiG N Dutton
Apr 1, 1991·The British Journal of Ophthalmology·J P BurkeR Bowell
Jan 1, 1990·Archives of Disease in Childhood·J Roberts-HarryH E Willshaw
Sep 1, 1989·Archives of Ophthalmology·R Y KimM H Narahara
Feb 1, 1989·American Journal of Diseases of Children·C E HannaS H LaFranchi
Mar 1, 1985·American Journal of Diseases of Children·G Costin, A L Murphree
Apr 25, 1970·Lancet·W F HoytJ S Glaser
Dec 1, 1970·American Journal of Ophthalmology·C Ellenberger, T E Runyan
Dec 1, 1970·American Journal of Ophthalmology·W C Edwards, W E Layden
Aug 25, 1983·The New England Journal of Medicine·M C Moore-EdeG S Richardson
Sep 1, 1983·The New England Journal of Medicine·M C Moore-EdeG S Richardson
Jun 1, 1984·Developmental Medicine and Child Neurology·D MargalithJ Lapointe
Jun 1, 1984·Developmental Medicine and Child Neurology·P Griffiths, S Hunt
Jun 1, 1981·Archives of Ophthalmology·J B Sprague, W B Wilson
Nov 1, 1995·American Journal of Ophthalmology·M BorchertA U Stout
Jan 1, 1994·Documenta Ophthalmologica. Advances in Ophthalmology·M JanákyG Benedek
Feb 24, 1995·The Journal of Biological Chemistry·P Q ThomasP D Rathjen
Jan 1, 1994·Documenta Ophthalmologica. Advances in Ophthalmology·G W Cibis, K M Fitzgerald
Jun 1, 1993·Developmental Medicine and Child Neurology·J WilliamsP Thomas
Jan 1, 1997·Archives of Ophthalmology·M C BrodskyR E Mrak
Jan 1, 1997·Annual Review of Medicine·R Y Moore
Sep 23, 1997·Lancet·F W Hanna, M F Scanlon
Oct 29, 1997·Molecular and Cellular Biology·G PoulinJ Drouin
Feb 14, 1998·Nature Genetics·W WuM G Rosenfeld
Apr 4, 1998·Acta Ophthalmologica Scandinavica·J Blohmé, K Tornqvist
Apr 29, 1998·Journal of Biological Rhythms·D R Weaver
Apr 30, 1999·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·A HellströmE Svensson
Sep 7, 1999·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·A HellströmE Svensson
Jun 6, 2000·The Journal of Pediatrics·M C Brodsky, P H Phillips
Sep 16, 2000·Acta Ophthalmologica Scandinavica·J BlohméK Tornqvist
Mar 14, 2001·The Netherlands Journal of Medicine·P H SchmitzA E Meinders

❮ Previous
Next ❯

Citations

Dec 10, 2009·Pediatric Radiology·Michael B SalmelaChristopher G Filippi
Jun 23, 2009·The Journal of Headache and Pain·Brett J Theeler, Kevin R Joseph
Aug 12, 2009·Documenta Ophthalmologica. Advances in Ophthalmology·Caroline ChaplinDaphne L McCulloch
May 31, 2012·Human Molecular Genetics·Lev PrasovTom Glaser
Nov 17, 2011·International Journal of Pediatric Endocrinology·Amy M VedinMitchell E Geffner
Oct 2, 2013·Oman Journal of Ophthalmology·Savleen Kaur Kamlesh
May 16, 2014·The British Journal of Ophthalmology·Yi Wei GohShuan Dai
Oct 29, 2013·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Cassandra FinkMark Borchert
Oct 23, 2012·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Cassandra FinkMark Borchert
Apr 14, 2010·Acta Ophthalmologica·Kristina Teär FahnehjelmAntal Nemeth
May 6, 2015·Ophthalmology·Anastasia PilatIrene Gottlob
Jun 27, 2013·Ophthalmic Genetics·Sing-Hui LimTerri L Young
Nov 30, 2010·Progress in Retinal and Eye Research·Patrick Yu-Wai-ManPatrick F Chinnery
Apr 5, 2014·Journal of Child Neurology·Cassandra FinkClifford Saper
Dec 21, 2018·Journal of Pediatric Ophthalmology and Strabismus·Doireann EvesMichael A Boyle
Aug 18, 2017·Current Opinion in Ophthalmology·Karen W Jeng-MillerEric D Gaier
Mar 1, 2013·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Susan WileyCharlotte Ruder
Dec 14, 2018·European Journal of Ophthalmology·Alma KurentBranka Stirn-Kranjc
Aug 17, 2020·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Michael C Brodsky
May 22, 2019·Journal of Child Neurology·Lira YoonYoung Mi Kim
Jan 1, 2015·Taiwan Journal of Ophthalmology·Hui-Chen ChengAn-Guor Wang
Nov 13, 2020·Journal of Neurology·Jonathan KfirGadi Wollstein
Jan 4, 2021·Journal français d'ophtalmologie·Y MalekA Oubaaz

❮ 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.

© 2022 Meta ULC. All rights reserved