Optic Nerve Hypoplasia

A group of rare genetic disorders characterized by underdeveloped OPTIC NERVES, resulting in increased incidences of vision impairment, CONGENITAL NYSTAGMUS and STRABISMUS. It may be syndromic, and is often associated with CNS malformations.

Also Known As:

Networked: 109 relevant articles (1 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Obesity
2.	Microphthalmos
3.	Glaucoma
4.	Septo-Optic Dysplasia
5.	Vision Disorders (Hemeralopia)

Experts

1.	Garcia-Filion, Pamela: 5 articles (10/2021 - 01/2012)
2.	Borchert, Mark: 5 articles (01/2016 - 11/2011)
3.	Fink, Cassandra: 5 articles (01/2016 - 11/2011)
4.	Geffner, Mitchell E: 4 articles (01/2016 - 11/2011)
5.	Gould, Douglas B: 3 articles (01/2016 - 04/2007)
6.	John, Simon W M: 3 articles (01/2016 - 04/2007)
7.	Vedin, Amy M: 3 articles (10/2012 - 11/2011)
8.	Stewart, Carly: 2 articles (10/2021 - 01/2016)
9.	Brecelj, Jelka: 2 articles (01/2020 - 02/2004)
10.	Stirn-Kranjc, Branka: 2 articles (01/2020 - 02/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Optic Nerve Hypoplasia:

1.	Growth Hormone (Somatotropin)IBA 04/01/2006 - "Optic nerve hypoplasia and growth hormone deficiency in a cholestatic infant." 03/01/1998 - "Optic nerve hypoplasia is a congenital disc anomaly associated with growth hormone deficiency (GHD). " 05/25/1984 - "[Optic nerve hypoplasia and growth hormone deficiency: de Morsier's syndrome]." 11/15/2011 - "Optic nerve hypoplasia (ONH) with/or without septo-optic dysplasia (SOD) is a known concomitant of congenital growth hormone deficiency (CGHD). " 11/15/2011 - "Presenting features and long-term effects of growth hormone treatment of children with optic nerve hypoplasia/septo-optic dysplasia."
2.	LipidsIBA 01/01/2016 - "Efficacy of growth hormone replacement on anthropometric outcomes, obesity, and lipids in children with optic nerve hypoplasia and growth hormone deficiency." 06/15/2012 - "(2003) Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. " 08/01/2003 - "Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice."
3.	Retinaldehyde (Retinal)IBA 01/01/2023 - "This study aims to report the association of optic nerve hypoplasia (ONH), peripheral retinal nonperfusion, and secondary complications in pediatric patients. " 01/01/2019 - "Through the establishment of relationships between optic nerve hypoplasia (ONH), optical coherence tomography (OCT) spectralis retinal nerve fiber layer (RNFL) thickness results and clinical sequelae, this study aims to identify long-term outcomes for individuals with ONH. " 11/01/2017 - "OCT studies of optic nerve hypoplasia have demonstrated significant thinning of the inner and outer retinal layers of the perifoveal region and thicker layers in the fovea itself, resulting in a foveal hypoplasia-like pathology, that is, significantly correlated to poorer visual outcomes. " 01/01/2020 - "The patient with p.Asp398Asn exhibited CPHD, optic nerve hypoplasia, and a thin retinal nerve fiber layer, and therefore satisfied the criteria of SOD. " 01/01/2019 - "Heterozygous mutations in the essential X-linked gene CASK associate with optic nerve hypoplasia (ONH) and other retinal disorders in girls. "
4.	Hormones (Hormone)IBA 02/01/2020 - "The aim of this study was to investigate the clinical phenotypes of a large cohort of children with SOD, Multiple Pituitary Hormone Deficiency (MPHD) and Optic Nerve Hypoplasia (ONH), with a focus on endocrine testing. " 01/28/2020 - "Background The objective of this study was to evaluate the age at onset and frequency of individual pituitary hormone deficiencies (PHDs) in optic nerve hypoplasia (ONH). " 01/28/2020 - "Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic." 09/01/2018 - "Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. " 01/01/2018 - "The risk factors for pituitary hormone dysfunction (PHD) in children with optic nerve hypoplasia (ONH) are not well understood. "
5.	Collagen Type IV (Type IV Collagen)IBA 10/01/2015 - "Mutations in the gene encoding collagen type IV alpha 1 (COL4A1) cause multisystem disorders including anterior segment dysgenesis (ASD) and optic nerve hypoplasia. " 04/01/2007 - "Here, we show that a mutation in the type IV collagen alpha 1 (Col4a1) gene can cause both ASD and optic nerve hypoplasia. "
6.	Transcription Factors (Transcription Factor)IBA 01/29/2016 - "Here we show that in zebrafish, reduced function of transcription factor Six3 results in optic nerve hypoplasia and a wide repertoire of RGC axon pathfinding errors. " 03/01/2019 - "Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including microcephaly, Hirschsprung disease, intellectual disability, epilepsy, microphthalmia, retinal coloboma, and/or optic nerve hypoplasia. "
7.	Ether (Diethyl Ether)IBA 06/15/2012 - "(2003) Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. " 08/01/2003 - "Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice."
8.	DNA (Deoxyribonucleic Acid)IBA 03/01/2014 - "Hence, we screened optic nerve hypoplasia (ONH) patient DNA samples from Australia, France, and the United States for sequence variants in theATOH7 gene using Sanger sequencing. " 06/01/2009 - "We report an original case of simultaneous deletion and duplication of chromosome 4q, confirmed by SNPs-array analysis of DNA, and characterized by a previously unreported association between optic nerve hypoplasia and progressive external ophthalmoplegia."
9.	Anticonvulsants (Antiepileptic Drugs)IBA 01/01/1978 - "Maternal anticonvulsants and optic nerve hypoplasia." 01/01/1978 - "The possibility that maternal anticonvulsant therapy may play a role in the genesis of optic nerve hypoplasia is discussed in the light of what is known about the teratogenicity of these agents." 08/01/2001 - "Optic nerve hypoplasia has been reported in association with other prenatal anticonvulsant exposures, but the occurrence of septo-optic dysplasia as a manifestation of valproic acid embryopathy has not been reported previously. "
10.	Ethanol (Ethyl Alcohol)IBA 01/01/2017 - "Mouse embryos with mutations in the Shh co-receptor, Cdon, were treated in utero with ethanol or saline at embryonic day 8 (E8.0) and evaluated for optic nerve hypoplasia (ONH), a prominent feature of SOD. " 01/01/2017 - "Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of optic nerve hypoplasia." 06/01/2002 - "The results suggested optic nerve hypoplasia in ethanol-exposed rats characterized by a selective loss of small-diameter myelinated fibers."

Therapies and Procedures

1.	Therapeutics 10/01/2013 - "To evaluate the effectiveness of stem cell therapy in improving visual acuity or optic nerve function in children with optic nerve hypoplasia (ONH). " 10/01/2013 - "Failure of stem cell therapy to improve visual acuity in children with optic nerve hypoplasia." 01/01/2017 - "Population-based epidemiological research, particularly on cerebral visual impairment and optic nerve hypoplasia, is needed in order to improve understanding of risk factors and to inform and support the development of novel therapies for disorders currently considered 'untreatable'." 01/01/1978 - "The possibility that maternal anticonvulsant therapy may play a role in the genesis of optic nerve hypoplasia is discussed in the light of what is known about the teratogenicity of these agents."
2.	Telescopes 01/01/2012 - "The only ocular structural abnormality was binocular optic nerve hypoplasia in 2 children. " 07/01/2005 - "Six of 56 patients, 10.7% (95% CI: 4.8-21.5%), had optic nerve hypoplasia; hypoplasia was found in both eyes of five binocular patients and in one monocular patient. "
3.	Biliopancreatic Diversion 06/01/2010 - "We report a case of microphthalmia, inferior adherent leukoma, and optic nerve hypoplasia in an infant whose mother underwent biliopancreatic diversion surgery for obesity 7 years before his birth. "
4.	Lasers (Laser) 09/01/2014 - "Optic disc microcirculation in superior segmental optic hypoplasia assessed with laser speckle flowgraphy."
5.	Electrodes (Electrode) 01/01/2020 - "Optic nerve hypoplasia group showed increased white scotopic, photopic, and blue electroretinograms in 15 children (skin electrode to Great Ormond Street Hospital protocol); increased 30-Hz electroretinogram in 3 children (HK electrode to International Society for Clinical Electrophysiology of Vision protocol); and reduced combined rod-cone, cone, and 30-Hz electroretinograms in 3 children (skin electrode to International Society for Clinical Electrophysiology of Vision protocol). "