Coloboma of optic nerve

A coloboma similar to autosomal dominant ocular coloboma (OMIM: 120200) both eyes are usually affected and it is frequently associated with detachment of the MACULA LUTEA and RETINA. Mutations in the PAX6 gene have been identified in some cases. OMIM: 120430

Also Known As:

Networked: 14 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Choroidal Neovascularization
2.	Microphthalmos
3.	CHARGE Syndrome
4.	Aicardi Syndrome
5.	Persistent Hyperplastic Primary Vitreous

Experts

1.	Martins, Alline: 2 articles (01/2022 - 08/2021)
2.	Medeiros, Analine L de: 2 articles (01/2022 - 08/2021)
3.	Vasconcelos, Adriano de: 2 articles (01/2022 - 08/2021)
4.	Ventura, Camila V: 2 articles (01/2022 - 08/2021)
5.	Silva, Mariana W de Barros E: 1 article (01/2022)
6.	Barros E Silva, Mariana W de: 1 article (08/2021)
7.	Chawla, Aditi: 1 article (01/2018)
8.	Henry, Duncan: 1 article (01/2018)
9.	Hirabayashi, Kristin E: 1 article (01/2018)
10.	Mendelsohn, Bryce A: 1 article (01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Coloboma of optic nerve:

1.	Bevacizumab (Avastin)FDA Link 06/01/2010 - "Intravitreal bevacizumab in choroidal neovascularization associated with congenital choroidal and optic nerve coloboma in children: long-term improvement in visual acuity."
2.	Retinaldehyde (Retinal)IBA 04/01/2016 - "Retinal ischaemia and delayed fibrovascular proliferation associated with an optic nerve coloboma." 08/01/2012 - "We report on a novel case of a male infant with a proximal "de novo" 4q12-q22 duplication and bilateral iris, retinal and optic nerve coloboma." 12/15/1992 - "Spontaneous retinal reattachment in a patient with persistent hyperplastic primary vitreous and an optic nerve coloboma." 10/01/2016 - "Aicardi syndrome is a rare X-linked cerebro-retinal disorder characterized by agenesis or dysgenesis of the corpus callosum, seizures, and chorioretinal lacunae; microphthalmia or optic nerve coloboma may also be observed. " 09/15/1999 - "Altogether, we provide clinical images for C57BL/6J, BALB/cByJ, retinal degeneration 1 (rd1), Rd2, rd3, rd7, achondroplasia, nervous, motor neuron degeneration, Purkinje cell degeneration, kidney and retinal defects, optic nerve coloboma 1, and two apparently multigenic optic nerve colobomas in a strain of mixed derivation (ONC) and the inbred CALB/Rk strain. "
3.	PAX2 Transcription FactorIBA 03/01/2003 - "The renal-coloboma syndrome is an autosomal dominant human disease, secondary to mutation of the PAX2 transcription factor, characterized by optic nerve coloboma, renal anomalies and vesicoureteral reflux. "
4.	Fluorescein (Funduscein)FDA LinkGeneric 11/01/1984 - "A rhesus monkey with a congenital coloboma of the optic nerve head associated with serous macular detachment underwent intravenous (IV), intrathecal, and retrobulbar fluorescein angiography. " 11/01/1984 - "No fluorescein leaked beneath the serous detachment after IV or intrathecal injection, although the retrobulbar injection caused a bolus to extravasate from the margin of the optic nerve coloboma, drifting toward the macular region temporally. "
5.	SodiumIBA 01/01/2018 - "We present a child with congenital sodium diarrhea, cleft lip and palate, corneal erosions, optic nerve coloboma, and intermittent exotropia who was found to have biallelic mutations in SPINT2. "
6.	LipidsIBA 06/01/2003 - "A 21-month-old boy with CHARGE association developed a grayish choroidal neovascular membrane associated with lipid exudation, subretinal fluid, and retinal hemorrhage at the temporal edge of his right optic nerve coloboma. "
7.	Carrier Proteins (Binding Protein)IBA 01/01/2014 - "In a consanguineous family with JS associated with optic nerve coloboma, kidney hypoplasia, and polydactyly, combined exome sequencing and mapping identified a homozygous splice-site mutation in PDE6D, encoding a prenyl-binding protein. "
8.	tyramine-deoxysorbitolIBA 05/01/2009 - "Tilted disc syndrome (TDS) is a congenital optic nerve coloboma occurring from embryonic dysgenesis. "
9.	prenylIBA 01/01/2014 - "In a consanguineous family with JS associated with optic nerve coloboma, kidney hypoplasia, and polydactyly, combined exome sequencing and mapping identified a homozygous splice-site mutation in PDE6D, encoding a prenyl-binding protein. "

Therapies and Procedures

1.	Kidney Transplantation 12/01/2001 - "A 9-year-old patient with a history of renal transplantation for congenital renal hypoplasia was found to have bilateral optic nerve coloboma during ophthalmic examination for cytomegalovirus retinitis. "
2.	Spinal Injections 11/01/1984 - "No fluorescein leaked beneath the serous detachment after IV or intrathecal injection, although the retrobulbar injection caused a bolus to extravasate from the margin of the optic nerve coloboma, drifting toward the macular region temporally. "
3.	Anesthesia 01/01/2022 - "The examination under anesthesia revealed microphthalmia in the right eye, and iris, retina, and optic nerve coloboma in both eyes. "