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Visual field defect

MedGen UID:
854603
Concept ID:
C3887875
Finding
Synonyms: Loss of visual fields; Visual field defects; Visual field loss
SNOMED CT: VFD - Visual field defect (12184005); Visual field defect (12184005)
 
HPO: HP:0001123

Definition

An absolute or relative reduction in the extent of the normal field of vision. [from NCI]

Conditions with this feature

Retinitis pigmentosa 31
MedGen UID:
372159
Concept ID:
C1835923
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene.
Wagner syndrome
MedGen UID:
326741
Concept ID:
C1840452
Disease or Syndrome
VCAN-related vitreoretinopathy, which includes Wagner syndrome and erosive vitreoretinopathy (ERVR), is characterized by "optically empty vitreous" on slit-lamp examination and avascular vitreous strands and veils, mild or occasionally moderate to severe myopia, presenile cataract, night blindness of variable degree associated with progressive chorioretinal atrophy, retinal traction and retinal detachment in the advanced stages of disease, and reduced visual acuity. Optic nerve inversion as well as uveitis has also been described. Systemic abnormalities are not observed. The first signs usually become apparent during early adolescence, but onset can be as early as age two years.
Friedreich ataxia 1
MedGen UID:
383962
Concept ID:
C1856689
Disease or Syndrome
Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before age 25 years (mean age at onset: 10-15 yrs). FRDA is typically associated with dysarthria, muscle weakness, spasticity particularly in the lower limbs, scoliosis, bladder dysfunction, absent lower-limb reflexes, and loss of position and vibration sense. Approximately two thirds of individuals with FRDA have cardiomyopathy, up to 30% have diabetes mellitus, and approximately 25% have an "atypical" presentation with later onset or retained tendon reflexes.
Craniosynostosis 2
MedGen UID:
346753
Concept ID:
C1858160
Disease or Syndrome
Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).
Angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert
MedGen UID:
347234
Concept ID:
C1859783
Disease or Syndrome
Congenital stationary night blindness autosomal dominant 1
MedGen UID:
355852
Concept ID:
C1864869
Disease or Syndrome
Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.
Familial cavitary optic disk anomaly
MedGen UID:
370593
Concept ID:
C1969063
Congenital Abnormality
A rare genetic eye disease with characteristics of congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss.
Glaucoma 1, open angle, H
MedGen UID:
409919
Concept ID:
C1969811
Disease or Syndrome
Open angle glaucoma-1H (GLC1H) is characterized by elevated intraocular pressures (IOPs) associated with visual field and optic nerve abnormalities. In some families, affected members present mostly in the 'juvenile-onset' (JOAG) age range (between 3 and 35 to 40 years of age), whereas in other families, affected individuals present mostly in the 'adult-onset' (POAG) age range (after age 35 or 40 years). Patients with early-onset disease generally have a more severe presentation, with higher IOPs and higher likelihood of being blind in at least 1 eye (summary by Mackay et al., 2015; Collantes et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see 137760.
Retinitis pigmentosa 56
MedGen UID:
462169
Concept ID:
C3150819
Disease or Syndrome
Retinitis pigmentosa-56 (RP56) is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity (Bandah-Rozenfeld et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Retinitis pigmentosa 4
MedGen UID:
462351
Concept ID:
C3151001
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene.
Retinitis pigmentosa 39
MedGen UID:
462488
Concept ID:
C3151138
Disease or Syndrome
Retinitis pigmentosa-39 (RP39) is characterized by the typical features of RP, including constriction of visual fields and reduced vision, with the fundus showing bone-spicule pigment deposition and attenuation of retinal vessels (Kaiserman et al., 2007; Jung et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000.
Retinitis pigmentosa 62
MedGen UID:
481672
Concept ID:
C3280042
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene.
Leber congenital amaurosis 16
MedGen UID:
481692
Concept ID:
C3280062
Disease or Syndrome
Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nIn very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.
Bosch-Boonstra-Schaaf optic atrophy syndrome
MedGen UID:
816693
Concept ID:
C3810363
Disease or Syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal dominant disorder characterized by delayed development, moderately impaired intellectual development, and optic atrophy. Most patients also have evidence of cerebral visual impairment. Dysmorphic facial features are variable and nonspecific (summary by Bosch et al., 2014).
Retinitis pigmentosa 68
MedGen UID:
816710
Concept ID:
C3810380
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.
Retinitis pigmentosa 73
MedGen UID:
907690
Concept ID:
C4225287
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.
Retinitis pigmentosa 78
MedGen UID:
1378790
Concept ID:
C4479481
Disease or Syndrome
Retinitis pigmentosa-78 (RP78) is an autosomal recessive retinal dystrophy that presents in the third to fourth decade with central visual disturbance, visual field defects, and nyctalopia. Fundus examination reveals optic disc pallor, attenuated retinal vessels, and irregular midperipheral intraretinal pigment migration (Arno et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Vitelliform macular dystrophy 1
MedGen UID:
1636950
Concept ID:
C4551953
Disease or Syndrome
Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by Manes et al., 2013). In contrast to typical VMD (see 153700), patients with atypical VMD may exhibit normal electrooculography, even when severe loss of vision is present, and fluorescein angiography is thus the most reliable test for identifying affected individuals (Hittner et al., 1984). Genetic Heterogeneity of Vitelliform Macular Dystrophy See also vitelliform macular dystrophy-2 (VMD2; 153700), caused by mutation in the BEST1 gene (607854) on chromosome 11q12; VMD3 (608161), caused by mutation in the PRPH2 gene (179605) on chromosome 6p21; VMD4 (616151), caused by mutation in the IMPG1 gene (602870) on chromosome 6q14; and VMD5 (616152), caused by mutation in the IMPG2 gene (607056) on chromosome 3q12.
Brain small vessel disease 1 with or without ocular anomalies
MedGen UID:
1647320
Concept ID:
C4551998
Disease or Syndrome
The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
MedGen UID:
1638681
Concept ID:
C4554120
Disease or Syndrome
CLCN2-related leukoencephalopathy is characterized by nonspecific neurologic findings, mild visual impairment from chorioretinopathy or optic atrophy, male infertility, and characteristic findings on brain MRI. Neurologic findings include mild ataxia (action tremor and gait instability following initially normal motor development; occasionally, mild spasticity), cognitive impairment in some (typically mild, rarely severe), psychiatric symptoms in some (depression and schizophrenia-like symptoms), headaches in some (usually intermittent, severe, and diffuse) and auditory symptoms in some (hearing loss, tinnitus, vertigo). Affected individuals remain ambulatory, do not require support for walking, and rarely become blind. To date CLCN2-related leukoencephalopathy has been reported or identified in 31 individuals from 30 families. It is not yet known if the findings occurring in a few individuals (i.e., epilepsy and paroxysmal kinesigenic dyskinesia) are part of the phenotypic spectrum or unrelated findings.
Glaucoma, primary closed-angle
MedGen UID:
1712967
Concept ID:
C5394374
Disease or Syndrome
Primary closed-angle glaucoma (GLCC) is characterized by age-related variation in the degree of iridocorneal angle closure and its sequelae, with patients in the first 3 decades of life showing a normal eye exam, whereas older patients progressively show more evidence of angle closure and glaucomatous damage, including optic nerve head changes and visual field defects (Suri et al., 2018).
Hereditary spastic paraplegia 74
MedGen UID:
1800260
Concept ID:
C5568837
Disease or Syndrome
Spastic paraplegia-74 (SPG74) is an autosomal recessive neurologic disorder characterized by onset of slowly progressive lower limb spasticity, optic atrophy, and peripheral neuropathy in the first decade (summary by Lossos et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).
Usher syndrome type 3A
MedGen UID:
1830415
Concept ID:
C5779850
Disease or Syndrome
Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene.

Professional guidelines

PubMed

Smajda S, Ciccio G, Fahed R, Robert T, Botta D, Redjem H, Desilles JP, Mazighi M, Zuber K, Escalard S, Baharvahdat H, Blanc R, Chauvet D, Philibert M, Chokron S, Piotin M
Neurosurgery 2020 Nov 16;87(6):E663-E671. doi: 10.1093/neuros/nyaa280. PMID: 32629471
Castinetti F, Dufour H, Gaillard S, Jouanneau E, Vasiljevic A, Villa C, Trouillas J
Ann Endocrinol (Paris) 2015 Jul;76(3):220-7. Epub 2015 Jun 10 doi: 10.1016/j.ando.2015.04.007. PMID: 26070464
Gamio S, Melek N
Binocul Vis Strabismus Q 2003;18(3):167-70. PMID: 14521505

Recent clinical studies

Etiology

Helboe KS, Eddelien HS, Kruuse C
Clin Neurol Neurosurg 2023 Jun;229:107749. Epub 2023 May 4 doi: 10.1016/j.clineuro.2023.107749. PMID: 37163931
Song W, Huang P, Zhang C
Drug Des Devel Ther 2015;9:1469-79. Epub 2015 Mar 11 doi: 10.2147/DDDT.S80594. PMID: 25792807Free PMC Article
Obuchowska I, Mariak Z
Klin Oczna 2012;114(3):226-9. PMID: 23373408
Schofield TM, Leff AP
Curr Opin Neurol 2009 Feb;22(1):36-40. doi: 10.1097/WCO.0b013e32831f1b2c. PMID: 19155760
Wheless JW, Ramsay RE, Collins SD
Neurotherapeutics 2007 Jan;4(1):163-72. doi: 10.1016/j.nurt.2006.11.008. PMID: 17199033Free PMC Article

Diagnosis

Warwick AM, Gospe SM 3rd, Chen JJ
Surv Ophthalmol 2022 Nov-Dec;67(6):1711-1716. Epub 2021 Aug 6 doi: 10.1016/j.survophthal.2021.08.001. PMID: 34364902
Obuchowska I, Mariak Z
Klin Oczna 2012;114(3):226-9. PMID: 23373408
Golchet PR, Jampol LM, Mathura JR Jr, Daily MJ
Br J Ophthalmol 2010 Mar;94(3):302-6. Epub 2009 Oct 12 doi: 10.1136/bjo.2009.162669. PMID: 19822914
Fontal MR, Kerrison JB, Garcia R, Oria V
Semin Neurol 2007 Jul;27(3):221-32. doi: 10.1055/s-2007-979686. PMID: 17577864
Cockerham KP, Hong SH, Browne EE
Curr Neurol Neurosci Rep 2003 Sep;3(5):401-9. doi: 10.1007/s11910-003-0023-z. PMID: 12914683

Therapy

Vodopivec I, Rizzo JF 3rd
Rheumatology (Oxford) 2018 Feb 1;57(suppl_2):ii63-ii72. doi: 10.1093/rheumatology/kex428. PMID: 29986083
Davis SA, Sleath B, Carpenter DM, Blalock SJ, Muir KW, Budenz DL
Curr Opin Ophthalmol 2018 Mar;29(2):171-177. doi: 10.1097/ICU.0000000000000451. PMID: 29140818Free PMC Article
Song W, Huang P, Zhang C
Drug Des Devel Ther 2015;9:1469-79. Epub 2015 Mar 11 doi: 10.2147/DDDT.S80594. PMID: 25792807Free PMC Article
Wheless JW, Ramsay RE, Collins SD
Neurotherapeutics 2007 Jan;4(1):163-72. doi: 10.1016/j.nurt.2006.11.008. PMID: 17199033Free PMC Article
Am J Ophthalmol 2000 Oct;130(4):429-40. doi: 10.1016/s0002-9394(00)00538-9. PMID: 11024415

Prognosis

Rashid AS, Rashid D, Yang G, Link H, Gauffin H, Huang-Link Y
Brain Behav 2021 Oct;11(10):e2345. Epub 2021 Sep 6 doi: 10.1002/brb3.2345. PMID: 34487632Free PMC Article
Obuchowska I, Mariak Z
Klin Oczna 2012;114(3):226-9. PMID: 23373408
Golchet PR, Jampol LM, Mathura JR Jr, Daily MJ
Br J Ophthalmol 2010 Mar;94(3):302-6. Epub 2009 Oct 12 doi: 10.1136/bjo.2009.162669. PMID: 19822914
Cockerham KP, Hong SH, Browne EE
Curr Neurol Neurosci Rep 2003 Sep;3(5):401-9. doi: 10.1007/s11910-003-0023-z. PMID: 12914683
Am J Ophthalmol 2000 Oct;130(4):429-40. doi: 10.1016/s0002-9394(00)00538-9. PMID: 11024415

Clinical prediction guides

Helboe KS, Eddelien HS, Kruuse C
Clin Neurol Neurosurg 2023 Jun;229:107749. Epub 2023 May 4 doi: 10.1016/j.clineuro.2023.107749. PMID: 37163931
Hebert JR, Subramanian PS
Curr Neurol Neurosci Rep 2019 Mar 16;19(5):19. doi: 10.1007/s11910-019-0939-6. PMID: 30877392
Davis SA, Sleath B, Carpenter DM, Blalock SJ, Muir KW, Budenz DL
Curr Opin Ophthalmol 2018 Mar;29(2):171-177. doi: 10.1097/ICU.0000000000000451. PMID: 29140818Free PMC Article
Golchet PR, Jampol LM, Mathura JR Jr, Daily MJ
Br J Ophthalmol 2010 Mar;94(3):302-6. Epub 2009 Oct 12 doi: 10.1136/bjo.2009.162669. PMID: 19822914
Am J Ophthalmol 2000 Oct;130(4):429-40. doi: 10.1016/s0002-9394(00)00538-9. PMID: 11024415

Recent systematic reviews

Bouet B, Schlund M, De Massary M, Nicot R
J Stomatol Oral Maxillofac Surg 2023 Dec;124(6S2):101660. Epub 2023 Oct 20 doi: 10.1016/j.jormas.2023.101660. PMID: 37866506
Helboe KS, Eddelien HS, Kruuse C
Clin Neurol Neurosurg 2023 Jun;229:107749. Epub 2023 May 4 doi: 10.1016/j.clineuro.2023.107749. PMID: 37163931
Alwashmi K, Meyer G, Rowe FJ
Neurol Sci 2022 Apr;43(4):2299-2321. Epub 2022 Feb 11 doi: 10.1007/s10072-022-05926-y. PMID: 35149925Free PMC Article
Yaghoubi M, Moradi-Lakeh M, Mokhtari-Payam M, Fakhraie G, Shokraneh F
Asia Pac J Ophthalmol (Phila) 2015 Jan-Feb;4(1):32-9. doi: 10.1097/APO.0000000000000085. PMID: 26068611
Pollock A, Hazelton C, Henderson CA, Angilley J, Dhillon B, Langhorne P, Livingstone K, Munro FA, Orr H, Rowe FJ, Shahani U
Cochrane Database Syst Rev 2011 Oct 5;(10):CD008388. doi: 10.1002/14651858.CD008388.pub2. PMID: 21975779

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