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Underdevelopment of the optic nerve
Optic nerve hypoplasia (ONH) is a medical condition arising from the underdevelopment (hypoplasia) of the optic nerve(s). This condition is the most common
Optic_nerve_hypoplasia
Optic nerve head, the point of exit for ganglion cell axons leaving the eye
optic disc or optic nerve head is the point of exit for ganglion cell axons leaving the eye. Because there are no rods or cones overlying the optic disc
Optic_disc
Underdevelopment of a tissue or organ
Turner's hypoplasia Chambers of the heart in hypoplastic left heart syndrome and hypoplastic right heart syndrome Optic nerve in optic nerve hypoplasia Sacrum
Hypoplasia
Medical condition
optic nerve underdevelopment. Developmental delays are more common in children with bilateral optic nerve hypoplasia than those with unilateral optic
Septo-optic_dysplasia
Cranial nerve connecting the eye to the brain
neuroanatomy, the optic nerve, also known as the second cranial nerve, cranial nerve II, or simply CN II, is a paired cranial nerve that transmits visual
Optic_nerve
Superior segmental optic nerve hypoplasia (SSONH), also known as topless disk syndrome or simply topless optic disc, is a congenital condition characterized
Superior segmental optic nerve hypoplasia
Superior_segmental_optic_nerve_hypoplasia
Absence of the iris, usually involving both eyes
condition affecting multiple parts of the eye, with macular and optic nerve hypoplasia, cataract, and corneal changes. Vision may be severely compromised
Aniridia
Medical condition
placed in front of the optic nerve and is responsible for light sensory and visual perceptiveness. Other diseases with foveal hypoplasia besides albinism include
Macular_hypoplasia
Defect of the optic nerve that causes visual field defects
Optic disc coloboma is a rare defect of the optic nerve that causes moderate to severe visual field defects. It is a congenital anomaly in which there
Optic_disc_coloboma
Hole in one of the structures of the eye
retinal detachment, sensory nystagmus, cortical visual loss, and optic nerve hypoplasia.[citation needed] Treacher Collins syndrome, autosomal dominant
Coloboma
Abnormal intolerance to visual perception of light
keratoconus, or optic nerve hypoplasia Hydrophthalmos, or congenital glaucoma Iritis Isotretinoin has been associated with photophobia Optic neuritis Pigment
Photophobia
Condition characterized by absence of pigment
other conditions such as strabismus. Optic nerve hypoplasia, underdevelopment of the optic nerve. Foveal Hypoplasia, incomplete development of the fovea
Albinism_in_humans
American singer, musician, and savant (born 1996)
to a Korean father and an Indonesian-American mother. Born with optic nerve hypoplasia, he is legally blind. He was diagnosed with autism at an early age
Kodi_Lee
Chromosomal disorder in which there are three copies of chromosome 13
retinal detachment, sensory nystagmus, cortical visual loss, and optic nerve hypoplasia Meningomyelocele (a spinal defect) Musculoskeletal and cutaneous
Patau_syndrome
U.S. nonprofit organization
Russell–Silver syndrome, thyroid disorders (both congenital and acquired), optic nerve hypoplasia, and other rare disorders. MAGIC offers a national educational program
MAGIC_Foundation
Dysfunction of eye movement
Bilateral congenital cataract Bilateral optic nerve hypoplasia Idiopathic Leber's congenital amaurosis Optic nerve or macular disease Persistent tunica vasculosa
Nystagmus
Birth defect of the eye
anomalies in both eyes. These abnormalities may include coloboma, optic nerve hypoplasia, retinal dystrophy, and cataract. Ultrasound may also be used to
Microphthalmia
American voice actress
Vallejo, California. She is legally blind, having been born with optic nerve hypoplasia. Quan grew up in San Francisco, California. When she was ten, her
Dionne_Quan
Group of neurodegenerative disorders
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive
Pontocerebellar_hypoplasia
Type of seizure
have been observed after taking a birth control pill (Maxim (R)). Optic nerve hypoplasia is the only reported condition associated with gelastic seizures
Gelastic_seizure
Medical condition
Long V (2008). "Pseudo-Foster–Kennedy Syndrome due to unilateral optic nerve hypoplasia: a case report". J Med Case Rep. 2 86. doi:10.1186/1752-1947-2-86
Foster_Kennedy_syndrome
Decreased ability to see
cataracts affect the eye itself, while abnormalities such as optic nerve hypoplasia affect the nerve bundle that sends signals from the eye to the back of the
Visual_impairment
Absence of an organ or tissue from birth
and failure to thrive. Optic nerve aplasia (ONA) is a congenital optic nerve anomaly defined as the absence of the optic nerve head, the retinal blood
Aplasia
Partial or complete wasting away of a part of the body
organ or tissue, after attaining its normal mature growth. In contrast, hypoplasia is the reduction in the cellular numbers of an organ, or tissue that has
Atrophy
American author and graphic designer (born 1976)
1995. Keith Rosson was born on April 12, 1976. He was born with optic nerve hypoplasia, which has left him with a peripheral vision of 25 degrees with
Keith_Rosson
Group of conditions resulting from maternal alcohol consumption during pregnancy
aplastic, dysplastic, or hypoplastic kidneys. Eyes: Strabismus, optic nerve hypoplasia (which may cause light sensitivity, decreased visual acuity, or
Fetal alcohol spectrum disorder
Fetal_alcohol_spectrum_disorder
Inflammatory disorder
Optic nerve involvement in Behçet's disease is rare, typically presenting as progressive optic atrophy and visual loss. However, cases of acute optic
Behçet's_disease
Medical condition
superior division of the nerve with an autosomal recessive inheritance. The condition can also result from aplasia or hypoplasia of one or more of the muscles
Oculomotor_nerve_palsy
Rare genetic condition involving intestinal atresia, eye abnormalities and microcephaly
and less commonly there may be twisted retinal blood vessels or optic nerve hypoplasia. The eye anomalies can result in an inability to focus (astigmatism)
Strømme_syndrome
Brain malformation in which the lateral ventricles are enlarged
defects such as, crossing of the eyes, missing visual fields, and optic nerve hypoplasia spasticity seizures cerebral palsy Intracranial abnormalities include:
Colpocephaly
Swiss neurologist (1894–1982)
congenital malformation now known as septo-optic dysplasia, a condition involving optic nerve hypoplasia and absence of the septum pellucidum. The condition
Georges_de_Morsier
Subclass of glycerophospholipids
biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice". Hum Mol Genet. 12 (15): 1881–95. doi:10.1093/hmg/ddg191
Plasmalogen
Quan – Voice actress who is legally blind from being born with Optic Nerve Hypoplasia, her known roles are Kimi Watanabe Finster from Rugrats, and Trixie
List_of_blind_people
Bulging of the eye anteriorly out of the orbit
process that is causing the displacement of the eye may also compress the optic nerve or ophthalmic artery, and lead to blindness. Many patients with exophthalmos
Exophthalmos
Topics referred to by the same term
organizations one-north MRT station, Singapore (MRT station abbreviation) Optic Nerve Hypoplasia, medical eye condition This disambiguation page lists articles associated
Onh
Technology
most widely used area of application for HRT is the inspection of the optic nerve head (papilla) for early detection and follow-up of glaucoma. The procedure
Heidelberg_Retinal_Tomography
Medical intervention
intent. Iatrogenic nerve damage has been described as an injury, with reports of damage to the facial nerve, olfactory nerve, and optic nerve reported amongst
Le_Fort_III_osteotomy
TMEM126A Optic nerve coloboma with renal disease; 120330; PAX2 Optic nerve hypoplasia and abnormalities of the central nervous system; 206900; SOX2 Optic nerve
List_of_OMIM_disorder_codes
Medical condition
genetic disorder marked by underdevelopment (hypoplasia) of the kidney and colobomas of the optic nerve. Ocular disc dysplasia is the most notable ocular
Papillorenal_syndrome
Medical condition
feeding difficulties early on may result in a failure to thrive. Optic nerve hypoplasia, nystagmus and photophobia may occur. Facial dysmorphism (cleft
Vici_syndrome
Medical condition
Mutations in this gene have been associated with the short stature, optic nerve atrophy, and Pelger–Huët anomaly syndrome and infantile liver failure
Acrofrontofacionasal dysostosis
Acrofrontofacionasal_dysostosis
Protein-coding gene in humans
the size of the optic stalk and ventral retina in chick embryos. Additionally, double CDON knock out mice display optic nerve hypoplasia (ONH), a prominent
CDON
White matter tract connecting the two cerebral hemispheres
callosum (Latin for "tough body"), or callosal commissure, is a wide, thick nerve tract, consisting of a flat bundle of commissural fibers, located beneath
Corpus_callosum
Opsismodysplasia Optic disc drusen Optic nerve disorders Optic nerve glioma Optic nerve hypoplasia Optic disc coloboma Optic neuritis Optic neuropathy Oral-facial
List_of_diseases_(O)
American biologist (born 1958)
cell research to find a cure for blindness in children born with Optic Nerve Hypoplasia, the leading cause of blindness in newborn’s. President Machen waited
Bruce_C._Kone
Difference in coloration, usually of the iris but also of hair or skin
hyperplasia of the iris tissues, whereas a lack of melanin indicates hypoplasia. The term is derived from Ancient Greek: ἕτερος, héteros "different" and
Heterochromia
Protein-coding gene in the species Homo sapiens
other abnormalities such as aplasia of the optic nerve, hypoplasia of the optic chiasm and dysplastic optic globes have also been observed. Other defects
Orthodenticle_homeobox_2
Medical condition
the patients also had feeding problems in infancy, microcephaly, optic nerve hypoplasia and hydronephrosis, wide-spaced nipples, short stature, cortical
2p15-16.1 microdeletion syndrome
2p15-16.1_microdeletion_syndrome
Sheet of internal skeletal muscle
thorax, which may impact development of the growing lungs and lead to hypoplasia. This condition is present in 0.8 - 5/10,000 births. A large herniation
Thoracic_diaphragm
Medical condition
needed] Other variable ocular anomalies such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, retinitis pigmentosa
SRD5A3-CDG
American endocrinologist
in human skin, endocrine manifestations of childhood AIDS, optic nerve hypoplasia/Septo-optic dysplasia and hypopituitarism and homocysteine metabolism
Francine_Ratner_Kaufman
Protein-coding gene in the species Homo sapiens
heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient"
HESX1
Viral disease caused by the varicella zoster virus
people, symptoms may include conjunctivitis, keratitis, uveitis, and optic nerve palsies, which can sometimes cause chronic ocular inflammation, vision
Shingles
Oval-shaped pigmented area near the center of the retina
cortex (which is the principal recipient of macular projections of the optic nerve) has been spared. Further, it indicates that cortical damage rostral
Macula
Medical condition
opacity) are common. The loss of and damage to the nerves of the optic nerve, causing optic atrophy, can occur. Nystagmus, or involuntary eye movement, and
Cockayne_syndrome
Medical condition
retina, small optic discs and scleral border and optic coloboma (degeneration of the inferior optic nerve). Cataract affects 30% - 79% of individuals. Buphthalmos
Muscle–eye–brain_disease
Medical condition
are blepharophimosis, cataracts, ocular albinism, optic atrophy, optic disk pallor, and optic nerve coloboma. The facial features of 1p36 deletion syndrome
1p36_deletion_syndrome
Medical condition
Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome
Pitt–Hopkins_syndrome
Decreased output of hormones by the pituitary gland
and feet, coarse facial features), and if the tumor extends to the optic nerve or optic chiasm, there may be visual field defects. Headaches may also accompany
Hypopituitarism
Papillon–Lefèvre syndrome Papillitis of the lingual papillae Papillitis of the optic nerve Papilloma of choroid plexus Papular mucinosis Papular urticaria Paracoccidioidomycosis
List_of_diseases_(P)
Medical condition
cognitive decline, epilepsy. Rarely patients experience cataracts, optic nerve degeneration, and an abnormally bright T2 signal (T2 signal arises from
POLR3-related_leukodystrophy
Syndromes
antagonist-associated Churg–Strauss syndrome Levator ani syndrome Leydig cell hypoplasia Liddle's syndrome Liebenberg syndrome LIG4 syndrome Lima syndrome Limb
List_of_syndromes
Protein-coding gene in humans
cancers. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple
PAX2
alopecia pseudoanodontia optic Growth retardation hydrocephaly lung hypoplasia Growth retardation mental retardation phalangeal hypoplasia Grubben–Decock–Borghgraef
List_of_diseases_(G)
Medical condition
Central nervous system Hypoplasia of the corpus callosum and cerebellar vermis Cognitive impairment Chiari I malformation Optic nerve colobomas Grey matter
Pascual-Castroviejo syndrome type 1
Pascual-Castroviejo_syndrome_type_1
Toomes, C.(Nov 2013). "Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism". Am J Hum Genet.93(6):1143–50. doi:
SciGenom_Labs
Medical condition
Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome
Tricho-rhino-phalangeal syndrome Type 1
Tricho-rhino-phalangeal_syndrome_Type_1
Medical condition
contractures of joints, deafness, hypoplasia of corpus callosum, diminished muscle tone, intellectual disability, nystagmus, optic nerve atrophy, slow eye movements
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Leukoencephalopathy_with_brainstem_and_spinal_cord_involvement_and_lactate_elevation
Medical condition
Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome
Campomelic_dysplasia
Human viral disease
absent deep tendon reflexes, anisocoria/Horner's syndrome Damage to body: hypoplasia of upper/lower extremities, anal and bladder sphincter dysfunction Skin
Chickenpox
Human disease
95%. Hypoplasia of the corpus callosum is also a common finding. Strabismus and nystagmus are prevalent in distal 18q-. Changes in the optic nerve, as
Distal_18q-
extremity predominance 2 Spinal muscular atrophy with pontocerebellar hypoplasia Spinal muscular atrophy with progressive myoclonic epilepsy Spinal muscular
List_of_diseases_(S)
Congenital disorder caused by maternal warfarin administration
can appear in newborns with severe nervous deficits. Atrophy of the optic nerve can also cause blindness in fetal warfarin syndrome. Inhibition of coagulation
Fetal_warfarin_syndrome
Congenital malformation of the cerebellar vermis
cataracts, small eyes (microphthalmia), chorioretinal dysplasia/atrophy, optic nerve dysplasia/atrophy, a small cornea (microcornea) or corneal opacity (leukoma)
Dandy–Walker_malformation
macula-brachydactyly type B syndrome Coloboma of macula Coloboma of optic nerve Coloboma of optic papilla Coloboma porencephaly hydronephrosis Coloboma uveal
List_of_diseases_(C)
Structure at the rear of the vertebrate brain, beneath the cerebrum
engineered mouse models. Congenital malformation or underdevelopment (hypoplasia) of the cerebellar vermis is a characteristic of both Dandy–Walker syndrome
Cerebellum
third eyelid, cornea, sclera, iris, ciliary body, retina, choroid, optic nerve, and orbit. The most common types are Meibomian gland adenoma (eyelid)
List_of_dog_diseases
Placement of a tube into the trachea
jaw and lower jaw, looking especially for problems such as maxillary hypoplasia (an underdeveloped upper jaw), micrognathia (an abnormally small jaw)
Tracheal_intubation
Medical condition
septum Malocclusion associated with dental abnormalities including enamel hypoplasia (thin enamel due to incomplete formation), hyperdontia (extra teeth),
Saethre–Chotzen_syndrome
Electric current produced in living cells
upper lip, flattened philtrum, micrognathia, dental oligodontia, enamel hypoplasia, delayed dentition eruption, malocclusion, broad forehead, wide set eyes
Developmental_bioelectricity
Protein-coding gene in humans
intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia. The role of CASK in disease is primarily associated with a loss of function
CASK
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