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Congenital nystagmus

MedGen UID:
195995
Concept ID:
C0700501
Congenital Abnormality
Synonyms: Congenital Nystagmus; Nystagmus, Congenital
SNOMED CT: Congenital nystagmus (64635004)
 
HPO: HP:0006934
Monarch Initiative: MONDO:0005712
OMIM® Phenotypic series: PS310700

Definition

Nystagmus dating from or present at birth. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital nystagmus

Conditions with this feature

Aplasia cutis-myopia syndrome
MedGen UID:
331375
Concept ID:
C1832826
Disease or Syndrome
A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.
Nystagmus 1, congenital, X-linked
MedGen UID:
333352
Concept ID:
C1839580
Disease or Syndrome
FRMD7-related infantile nystagmus (FIN) is characterized by either the onset of horizontal, conjugate, gaze-dependent nystagmus in the first six months of life or periodic alternating nystagmus (with cyclical changes of nystagmus direction) of infantile onset. Binocular vision and color vision are normal and visual acuity is typically better than 6/12. An abnormal head posture is seen in approximately 15% of affected individuals. The eyes are structurally normal and electrophysiologic studies (e.g., visual evoked potential, electroretinogram) are normal. Affected females report slightly better visual acuity than affected males; however, no differences between males and females in the amplitude, frequency, and waveform of nystagmus are observed.
Karsch-Neugebauer syndrome
MedGen UID:
401072
Concept ID:
C1866740
Disease or Syndrome
A rare syndrome with characteristics of split-hand and split-foot deformity and ocular abnormalities mainly a congenital nystagmus. Ten cases from four families have been reported in the literature. In some cases the hands are monodactylous. The affected patients have normal mental development. The condition seems to be autosomal dominant with a relatively high proportion of gonadal mosaicism.
Oculoauricular syndrome
MedGen UID:
393758
Concept ID:
C2677500
Disease or Syndrome
Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage (summary by Gillespie et al., 2015).
Leber congenital amaurosis 15
MedGen UID:
462556
Concept ID:
C3151206
Disease or Syndrome
Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (summary by Gu et al., 1997). Mutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14; 600132). For a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.
Nystagmus, congenital, autosomal recessive
MedGen UID:
462921
Concept ID:
C3151571
Disease or Syndrome
Autosomal recessive congenital nystagmus-8 (NYS8) is characterized by the presence of bilateral horizontal nystagmus in the absence of other neurologic signs or symptoms. Brain imaging is normal (Huang et al., 2022). For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700).
Foveal hypoplasia 1
MedGen UID:
811934
Concept ID:
C3805604
Disease or Syndrome
Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (106210), microphthalmia (see 251600), albinism (see 203100), or achromatopsia (see 216900). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014). Genetic Heterogeneity of Foveal Hypoplasia Foveal hypoplasia-2 (FVH2; 609218) is caused by mutation in the SLC38A8 gene (615585) on chromosome 16q23.
Hermansky-Pudlak syndrome 3
MedGen UID:
854708
Concept ID:
C3888001
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.
Intellectual disability, autosomal recessive 42
MedGen UID:
862780
Concept ID:
C4014343
Disease or Syndrome
Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities (NEDDSBA) is an autosomal recessive neurodevelopmental disorder characterized by severely delayed global development, with hypotonia, impaired intellectual development, and poor or absent speech. Most patients have spasticity with limb hypertonia and brisk tendon reflexes. Additional features include nonspecific dysmorphic facial features, structural brain abnormalities, and cortical visual impairment (summary by Bosch et al., 2015). Novarino et al. (2014) labeled the disorder 'spastic paraplegia-67' (SPG67). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Pontocerebellar hypoplasia, type 1D
MedGen UID:
1648387
Concept ID:
C4748058
Disease or Syndrome
Pontocerebellar hypoplasia type 1D (PCH1D) is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
MedGen UID:
1794216
Concept ID:
C5562006
Disease or Syndrome
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) is characterized by axial hypotonia and global developmental delay apparent in early infancy. Affected individuals have delayed walking with gait ataxia and poor language development. Behavioral abnormalities also commonly occur. The severity is highly variable: a subset of patients have a more severe phenotype with early-onset seizures resembling epileptic encephalopathy, inability to walk or speak, and hypomyelination on brain imaging (summary by Stolz et al., 2021).

Professional guidelines

PubMed

Teodorescu L
Rom J Ophthalmol 2015 Jul-Sep;59(3):137-40. PMID: 26978880Free PMC Article
Lee AG, Brazis PW
Curr Neurol Neurosci Rep 2006 Sep;6(5):414-20. doi: 10.1007/s11910-996-0022-y. PMID: 16928352
Gresty M, Page N, Barratt H
J Neurol Neurosurg Psychiatry 1984 Sep;47(9):936-42. doi: 10.1136/jnnp.47.9.936. PMID: 6481387Free PMC Article

Recent clinical studies

Etiology

Wen Z, Kang Y, Zhang Y, Yang H, Xie B
Neuroreport 2023 Apr 5;34(6):315-322. Epub 2023 Mar 6 doi: 10.1097/WNR.0000000000001894. PMID: 36966812
Bertsch M, Floyd M, Kehoe T, Pfeifer W, Drack AV
Ophthalmic Genet 2017 Jan-Feb;38(1):22-33. doi: 10.1080/13816810.2016.1266667. PMID: 28177849Free PMC Article
Strupp M, Thurtell MJ, Shaikh AG, Brandt T, Zee DS, Leigh RJ
J Neurol 2011 Jul;258(7):1207-22. Epub 2011 Apr 2 doi: 10.1007/s00415-011-5999-8. PMID: 21461686Free PMC Article
Grønskov K, Ek J, Brondum-Nielsen K
Orphanet J Rare Dis 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. PMID: 17980020Free PMC Article
Leigh RJ, Khanna S
Semin Ophthalmol 2006 Apr-Jun;21(2):83-6. doi: 10.1080/08820530600613985. PMID: 16702074

Diagnosis

Kates MM, Beal CJ
JAMA 2021 Feb 23;325(8):798. doi: 10.1001/jama.2020.3911. PMID: 33620408
Brodsky MC
J Binocul Vis Ocul Motil 2020 Apr-Jun;70(2):63-70. Epub 2020 May 12 doi: 10.1080/2576117X.2020.1760072. PMID: 32397854
Ospina LH
J Binocul Vis Ocul Motil 2018 Oct-Dec;68(4):99-109. Epub 2018 Oct 15 doi: 10.1080/2576117X.2018.1493311. PMID: 30322349
Bertsch M, Floyd M, Kehoe T, Pfeifer W, Drack AV
Ophthalmic Genet 2017 Jan-Feb;38(1):22-33. doi: 10.1080/13816810.2016.1266667. PMID: 28177849Free PMC Article
Grønskov K, Ek J, Brondum-Nielsen K
Orphanet J Rare Dis 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. PMID: 17980020Free PMC Article

Therapy

Huppert D, Strupp M, Mückter H, Brandt T
Acta Otolaryngol 2011 Mar;131(3):228-41. Epub 2010 Dec 13 doi: 10.3109/00016489.2010.531052. PMID: 21142898
McLean RJ, Gottlob I
Expert Opin Pharmacother 2009 Aug;10(11):1805-16. doi: 10.1517/14656560902978446. PMID: 19601699
Leigh RJ, Khanna S
Semin Ophthalmol 2006 Apr-Jun;21(2):83-6. doi: 10.1080/08820530600613985. PMID: 16702074
Shallo-Hoffmann J, Riordan-Eva P
Strabismus 2001 Dec;9(4):203-15. doi: 10.1076/stra.9.4.203.692. PMID: 11840355
Spielmann A
Curr Opin Ophthalmol 1994 Oct;5(5):20-4. PMID: 10150810

Prognosis

Huurneman B, Boonstra FN
Strabismus 2013 Dec;21(4):216-24. Epub 2013 Nov 6 doi: 10.3109/09273972.2013.833954. PMID: 24195763
Proudlock F, Gottlob I
Ann N Y Acad Sci 2011 Sep;1233:292-7. doi: 10.1111/j.1749-6632.2011.06174.x. PMID: 21951007
Boricean ID, Bărar A
Oftalmologia 2011;55(1):10-26. PMID: 21774381
Lloyd IC, Ashworth J, Biswas S, Abadi RV
Eye (Lond) 2007 Oct;21(10):1301-9. doi: 10.1038/sj.eye.6702845. PMID: 17914433
Khanna S, Dell'Osso LF
ScientificWorldJournal 2006 Oct 30;6:1385-97. doi: 10.1100/tsw.2006.248. PMID: 17086344Free PMC Article

Clinical prediction guides

Wen Z, Kang Y, Zhang Y, Yang H, Xie B
Neuroreport 2023 Apr 5;34(6):315-322. Epub 2023 Mar 6 doi: 10.1097/WNR.0000000000001894. PMID: 36966812
Weiner C, Hecht I, Rotenstreich Y, Guttman S, Or L, Morad Y, Shapira G, Shomron N, Pras E
Exp Eye Res 2020 Apr;193:107958. Epub 2020 Feb 4 doi: 10.1016/j.exer.2020.107958. PMID: 32032626
Benke D, Möhler H
Neuropharmacology 2018 Jul 1;136(Pt A):46-55. Epub 2017 Jul 29 doi: 10.1016/j.neuropharm.2017.07.030. PMID: 28764992
Proudlock F, Gottlob I
Ann N Y Acad Sci 2011 Sep;1233:292-7. doi: 10.1111/j.1749-6632.2011.06174.x. PMID: 21951007
Khanna S, Dell'Osso LF
ScientificWorldJournal 2006 Oct 30;6:1385-97. doi: 10.1100/tsw.2006.248. PMID: 17086344Free PMC Article

Recent systematic reviews

Huurneman B, Boonstra FN, Cox RF, Cillessen AH, van Rens G
BMC Ophthalmol 2012 Jul 23;12:27. doi: 10.1186/1471-2415-12-27. PMID: 22824242Free PMC Article

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