congenital nystagmus

Summary

Summary: Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)

Top Publications

  1. Korff C, Apkarian P, Bour L, Meuli R, Verrey J, Roulet Perez E. Isolated absence of optic chiasm revealed by congenital nystagmus, MRI and VEPs. Neuropediatrics. 2003;34:219-23 pubmed
    b>Congenital nystagmus is a rare condition mainly characterised by rhythmic, conjugate, and horizontal oscillations of both eyes that persist in the vertical gaze...
  2. Zhang Q, Xiao X, Li S, Guo X. FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. Mol Vis. 2007;13:1375-8 pubmed
    ..CMN in a Chinese family with pure X-linked recessive pattern, previously mapped to Xq23-q27, is associated with the c.41-43delAGA mutation in FRMD7. ..
  3. Liu J, Ren X, Yang X, Guo T, Yao Q, Li L, et al. Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. J Hum Genet. 2007;52:565-70 pubmed
    b>Congenital nystagmus is characterized by involuntary, rhythmical, repeated oscillations of one or both eyes...
  4. Shery T, Proudlock F, Sarvananthan N, McLean R, Gottlob I. The effects of gabapentin and memantine in acquired and congenital nystagmus: a retrospective study. Br J Ophthalmol. 2006;90:839-43 pubmed
    ..There was no change of nystagmus in other neurological disorders. Patients with congenital nystagmus showed reduction of nystagmus and their VA changes depended on the ocular pathology...
  5. Abadi R. Mechanisms underlying nystagmus. J R Soc Med. 2002;95:231-4 pubmed
  6. Faugère V, Tuffery Giraud S, Hamel C, Claustres M. Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. BMC Genet. 2003;4:1 pubmed
    ..Affected Caucasian males usually appear to have normal skin and hair pigment...
  7. Oetting W, Armstrong C, Holleschau A, DeWan A, Summers G. Evidence for genetic heterogeneity in families with congenital motor nystagmus (CN). Ophthalmic Genet. 2000;21:227-33 pubmed
    ..82, straight theta=0.0, for marker D6S459 located at 6p12, thus excluding the chromosome 6 locus. This provides evidence for at least a fourth locus associated with CN. ..
  8. Cabot A, Rozet J, Gerber S, Perrault I, Ducroq D, Smahi A, et al. A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3. Am J Hum Genet. 1999;64:1141-6 pubmed
    b>Congenital nystagmus (CN) is a common oculomotor disorder (frequency of 1/1,500 live births) characterized by bilateral uncontrollable ocular oscillations, with onset typically at birth or within the first few months of life...
  9. He X, Gu F, Wang Y, Yan J, Zhang M, Huang S, et al. A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family. Mol Vis. 2008;14:56-60 pubmed
    To identify the gene responsible for causing an X-linked idiopathic congenital nystagmus (XLICN) in a six-generation Chinese family. Forty-nine members of an XLICN family were recruited and examined after obtaining informed consent...

More Information

Publications62

  1. Biega T, Khademian Z, Vezina G. Isolated absence of the optic chiasm: a rare cause of congenital nystagmus. AJNR Am J Neuroradiol. 2007;28:392-3 pubmed
    The cases presented are rare examples of congenital nystagmus associated with isolated absence of the optic chiasm. MR imaging in both patients demonstrated unremarkable anterior optic pathways and optic tracts...
  2. Self J, Ennis S, Collins A, Shawkat F, Harris C, Mackey D, et al. Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3. Mol Vis. 2006;12:1211-6 pubmed
    ..We refine the linkage interval for X-linked recessive congenital idiopathic nystagmus and exclude MBNL3 as the causative gene in this family. ..
  3. Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot C, et al. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet. 2006;38:1242-4 pubmed
    Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus...
  4. Zhou P, Wang Z, Zhang J, Hu L, Kong X. Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus. Mol Vis. 2008;14:1015-9 pubmed
    To map and identify the genetic mutation underlying X-linked congenital nystagmus in a Chinese family. Genomic DNA was prepared from peripheral blood, and linkage analysis was performed using short tandem repeat (STR) polymorphism markers...
  5. Hoffmann S, Becker A, Hoerle S, Metz A, Oertel W, Sommer N, et al. Autosomal dominant congenital nystagmus is not linked to 6p12, 7p11, and 15q11 in a German family. Am J Ophthalmol. 2004;138:439-43 pubmed
    b>Congenital nystagmus (CN) is an eye-movement disorder that usually starts within the first months of life. Autosomal dominant, autosomal recessive, and X-chromosomal pedigree patterns are observed. Causative genes are yet unknown...
  6. Hertle R, Chan C, Galita D, Maybodi M, Crawford M. Neuroanatomy of the extraocular muscle tendon enthesis in macaque, normal human, and patients with congenital nystagmus. J AAPOS. 2002;6:319-27 pubmed
    ..To search for the presence of, and qualitatively characterize the microscopic anatomy of, nerve terminals in the tendino-scleral (enthesial) area of the extraocular muscle tendon...
  7. Schorderet D, Tiab L, Gaillard M, Lorenz B, Klainguti G, Kerrison J, et al. Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. Hum Mutat. 2007;28:525 pubmed
    b>Congenital nystagmus is an eye movement disorder in which one or both eyes are in constant movement. It can be associated with a number of ocular or neurological diseases, or it can be inherited in an autosomal or X-linked fashion...
  8. Self J, Shawkat F, Malpas C, Thomas N, Harris C, Hodgkins P, et al. Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus. Arch Ophthalmol. 2007;125:1255-63 pubmed
    ..We demonstrate that other congenital nystagmus genes exist besides FRMD7...
  9. He X, Gu F, Wang Z, Wang C, Tong Y, Wang Y, et al. A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus. Genet Test. 2008;12:607-13 pubmed publisher
    Idiopathic congenital nystagmus (ICN) is a common oculomotor disorder characterized by bilateral involuntary, periodic, and predominantly ocular oscillations...
  10. Peng Y, Meng Y, Wang Z, Qin M, Li X, Dian Y, et al. A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus. Mol Vis. 2009;15:810-4 pubmed
    To elucidate the molecular genetic defect of X-linked congenital nystagmus in a Chinese family. Genomic DNA was prepared from peripheral blood...
  11. Guo X, Li S, Jia X, Xiao X, Wang P, Zhang Q. Linkage analysis of two families with X-linked recessive congenital motor nystagmus. J Hum Genet. 2006;51:76-80 pubmed
    ..The nystagmus in these two families is linked to markers in the region of chromosome Xq23-q27, including DXS1001, DXS8009, and DXS1047. DXS1047 gave the highest lod score of 3.53 at theta = 0. ..
  12. Sonoda S, Isashiki Y, Tabata Y, Kimura K, Kakiuchi T, Ohba N. A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia. Graefes Arch Clin Exp Ophthalmol. 2000;238:552-8 pubmed
    ..To scrutinize the etiology of a four-generation Japanese family with autosomal dominant nystagmus associated with anterior and posterior segment anomalies, the PAX6 gene was examined...
  13. Tkalcevic L, Abel L. Effects of stimulus size and luminance on oscillopsia in congenital nystagmus. Vision Res. 2003;43:2697-705 pubmed
    Although the absence of oscillopsia is a common feature of congenital nystagmus (CN), it is occasionally noted by patients under poor viewing conditions and has been provoked in laboratory settings with stabilised images...
  14. Ragge N, Hartley C, Dearlove A, Walker J, Russell Eggitt I, Harris C. Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus. J Med Genet. 2003;40:37-41 pubmed
    ..for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus. Observational and experimental study...
  15. Vincent M, Gallai R, Olivier D, Speeg Schatz C, Flament J, Calvas P, et al. Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia. Am J Ophthalmol. 2004;138:1016-21 pubmed
    ..With regard to the implication of this gene in unusual phenotypes, we report a family presenting with congenital nystagmus, foveal hypoplasia, and iris hypoplasia or atypical coloboma. Observational case report...
  16. Preising M, Op de Laak J, Lorenz B. Deletion in the OA1 gene in a family with congenital X linked nystagmus. Br J Ophthalmol. 2001;85:1098-103 pubmed
    To elucidate the molecular genetic defect of X linked congenital nystagmus associated with macular hypoplasia in three white males of a three generation family with clear features of ocular albinism in only one of them...
  17. Zhang B, Liu Z, Zhao G, Xie X, Yin X, Hu Z, et al. Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus. Mol Vis. 2007;13:1674-9 pubmed
    ..1003C>T). These nucleotide alterations were not seen in unaffected members of the families or in 100 unrelated control subjects. This study widens the mutation spectrum of the FRMD7 gene. ..
  18. Abadi R, Bjerre A. Motor and sensory characteristics of infantile nystagmus. Br J Ophthalmol. 2002;86:1152-60 pubmed
    ..7%) of the sample. 32 (14.3%) had a torsional component to their nystagmus. 182 (81.2%) were classed as congenital nystagmus (CN), 32 (14.3%) as manifest latent nystagmus (MLN), and 10 (4.5%) as a CN/MLN hybrid...
  19. Kaplan Y, Vargel I, Kansu T, Akin B, Rohmann E, Kamaci S, et al. Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene. Br J Ophthalmol. 2008;92:135-41 pubmed
    ..A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females. ..
  20. Sallmann G, Bray P, Rogers S, Quince A, Cotton R, Carden S. Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. Ophthalmic Genet. 2006;27:43-9 pubmed
    ..Some subjects with nystagmus lack convincing signs of albinism, have no other visual pathway disease, and are classified as possessing congenital idiopathic nystagmus (CN). It has been postulated that CN may be a form of ocular albinism...
  21. Dell Osso L. Development of new treatments for congenital nystagmus. Ann N Y Acad Sci. 2002;956:361-79 pubmed
    The use of ocular motor data as the basis for the development of both nonsurgical and surgical therapies for congenital nystagmus (CN) has been underway since the mid-1960s...
  22. Morris B, Smith V, Elphick J, Laws D. Compensatory head posture and neck problems: is there an association? A cohort study of nystagmus patients. Eye (Lond). 2009;23:279-83 pubmed publisher
    ..was carried out to assess the range of neck movements in patients with compensatory head posture due to congenital nystagmus. Exclusion criteria included known neck problems, vertebrobasilar insufficiency, and age less than 16 years...
  23. Huang X, Isabel de Michelena M, Leon E, Maher T, McClure R, Milunsky A. Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome. Clin Genet. 2007;72:434-40 pubmed
    ..22 - a region that appears to be susceptible to the formation of neocentromeres. The use of subtelomeric probe PCP12p in buccal cells appears superior to the use of the centromere probe D12Z3 for the diagnosis of the PKS. ..
  24. Hertle R, Maybodi M, Mellow S, Yang D. Clinical and oculographic response to Tenuate Dospan (diethylpropionate) in a patient with congenital nystagmus. Am J Ophthalmol. 2002;133:159-60 pubmed
    We report a female adult with congenital nystagmus who responded with improved visual function and oculographic parameters after taking the anorexic diet drug Tenuate Dospan (diethylproprionate; Watson Laboratories, Inc...
  25. Sampath V, Bedell H. Distribution of refractive errors in albinos and persons with idiopathic congenital nystagmus. Optom Vis Sci. 2002;79:292-9 pubmed
    ..refractive errors in a sample of adolescent and adult albinos (n = 19) with that in persons with idiopathic congenital nystagmus (CN) (n = 46), whose eye movements are similar to those of albinos but whose visual acuity is better...
  26. Bedell H, Ramamurthy M, Patel S, Subramaniam S, Vu Yu L, Tong J. The temporal impulse response function in infantile nystagmus. Vision Res. 2008;48:1575-83 pubmed publisher
    ..This increase in response speed is too small to account by itself for the virtual absence of perceived motion smear in subjects with IN, and additional neural mechanisms are considered. ..
  27. Yonehara K, Fiscella M, Drinnenberg A, Esposti F, Trenholm S, Krol J, et al. Congenital Nystagmus Gene FRMD7 Is Necessary for Establishing a Neuronal Circuit Asymmetry for Direction Selectivity. Neuron. 2016;89:177-93 pubmed publisher
    ..Here we found that the mutation of FRMD7, a gene that is defective in human congenital nystagmus, leads to the selective loss of the horizontal optokinetic reflex in mice, as it does in humans...
  28. Da Pozzo P, Cardaioli E, Malfatti E, Gallus G, Malandrini A, Gaudiano C, et al. A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. Eur J Hum Genet. 2009;17:1092-6 pubmed publisher
    ..The result highlights the importance of molecular dissection of mtDNA in patients with defined mt disorder and confirms the clinical and biochemical heterogeneity associated with tRNA(Pro) mutations. ..
  29. Evans B. Interventions for infantile nystagmus syndrome: towards a randomized controlled trial?. Semin Ophthalmol. 2006;21:111-6 pubmed
    ..It is suggested that previous studies on interventions for nystagmus have laid an important foundation for future work in this field, which should involve RCTs. ..
  30. Hayashi T, Hasegawa F, Usui C, Kubota N. [Pathophysiology and diagnosis of congenital periodic alternating nystagmus]. Nippon Ganka Gakkai Zasshi. 2003;107:265-72 pubmed
    ..Ninety-one patients with congenital nystagmus who were seen in our department in Teikyo University School of Medicine between July 1994 and January 2002 ..
  31. Bifulco P, Cesarelli M, Loffredo L, Sansone M, Bracale M. Eye movement baseline oscillation and variability of eye position during foveation in congenital nystagmus. Doc Ophthalmol. 2003;107:131-6 pubmed
    Despite the inability to maintain steady fixation, congenital nystagmus does not necessarily reduce visual acuity, that can be achieved during the foveation periods...
  32. Soloway B, Roth R. Laser in situ keratomileusis in a patient with congenital nystagmus. J Cataract Refract Surg. 2002;28:544-6 pubmed
    ..Twelve months after bilateral LASIK, with an enhancement procedure in both eyes at 4 months, UCVA was 20/40 in both eyes. Corneal topography showed well-centered ablation zones. ..
  33. Dunn P, Prigatano G, Szelinger S, Roth J, Siniard A, Claasen A, et al. A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. Am J Med Genet A. 2017;173:611-617 pubmed publisher
    ..Upregulation of CASK as well as dysregulation among a number of interactors is also evident by RNA-seq. This is the second CASK mutation known to us as cause of FGS4. © 2017 Wiley Periodicals, Inc. ..
  34. Pott J, Jansonius N, Kooijman A. Chiasmal coefficient of flash and pattern visual evoked potentials for detection of chiasmal misrouting in albinism. Doc Ophthalmol. 2003;106:137-43 pubmed
    ..The method is relatively simple and only needs two electrode tracings. One should be aware of false-positive results when using flash stimulation. Whenever possible pattern stimulation should be used. ..
  35. Li N, Wang L, Cui L, Zhang L, Dai S, Li H, et al. Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus. Mol Vis. 2008;14:733-8 pubmed
    ..This is first report that five kinds of FRMD7 gene mutation types occurred in Chinese families with IN, which further support that FRMD7 gene mutations are the underlying pathogenesis of the molecular mechanism for infantile nystagmus. ..
  36. Shallo Hoffmann J, Riordan Eva P. Recognizing periodic alternating nystagmus. Strabismus. 2001;9:203-15 pubmed
    ..is to assist the clinician in the recognition of periodic alternating nystagmus (PAN), either as a type of congenital nystagmus or in its acquired form, and to highlight why such identification is important...
  37. Storey E, Bahlo M, Fahey M, Sisson O, Lueck C, Gardner R. A new dominantly inherited pure cerebellar ataxia, SCA 30. J Neurol Neurosurg Psychiatry. 2009;80:408-11 pubmed publisher
    ..Currently, 27 forms are known, with the causative gene identified in 16. Although the majority of dominant pedigrees worldwide have SCAs 1, 2, 3, 6 or 8, new SCAs continue to be delineated. We describe a new disorder: SCA 30...
  38. Ditta L, Pereiras L, Graves E, Devould C, Murchison E, Figueroa L, et al. Establishing a surgical outreach program in the developing world: pediatric strabismus surgery in Guatemala City, Guatemala. J AAPOS. 2015;19:526-30 pubmed publisher
    ..Diagnoses included congenital and acquired esotropia, consecutive and acquired exotropia, congenital nystagmus, Duane syndrome, Brown syndrome, cranial nerve palsy, dissociated vertical deviation, and oblique muscle ..
  39. Hope C, Sharp D, Hemara Wahanui A, Sissingh J, Lundon P, Mitchell E, et al. Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2. Clin Exp Ophthalmol. 2005;33:129-36 pubmed
    ..Male family members had severe non-progressive visual impairment, abnormal colour vision, congenital nystagmus, hyperopia and normal fundi. Some were intellectually disabled...
  40. Kim B, Mun S, Lee D, Choi H, Chung Y. Small-incision lenticule extraction in a patient with congenital nystagmus. J Cataract Refract Surg. 2017;43:136-138 pubmed publisher
    We report a case of a 23-year-old woman with congenital nystagmus who had small-incision lenticule extraction (SMILE) procedure to correct refractive errors. The manifest refraction was -5.50 -1.75 × 180 in the right eye, -5.0 -2...
  41. Dell Osso L, Hertle R, Daroff R. "Sensory" and "motor" nystagmus: erroneous and misleading terminology based on misinterpretation of David Cogan's observations. Arch Ophthalmol. 2007;125:1559-61 pubmed
  42. Wang Z, Dell Osso L. Being "slow to see" is a dynamic visual function consequence of infantile nystagmus syndrome: model predictions and patient data identify stimulus timing as its cause. Vision Res. 2007;47:1550-60 pubmed
    ..Our OMS model simulations demonstrated this emergent behavior and predicted the lengthy target acquisition times found in the patient data. ..
  43. Graf M. Kestenbaum and artificial divergence surgery for abnormal head turn secondary to nystagmus. Specific and nonspecific effects of artificial divergence. Strabismus. 2002;10:69-74 pubmed
    ..If a test with base-out prisms suggests that artificial divergence is promising, this concept is preferable. It can be integrated into Kestenbaum surgery. ..
  44. Graf M, Droutsas K, Kaufmann H. [Congenital nystagmus: indication, results and dosage of Kestenbaum surgery in 34 patients]. Klin Monbl Augenheilkd. 2000;217:334-9 pubmed
    ..Physiological and methodical factors (false measurements) have to be discussed as an explanation for apparently low efficacy of surgery. ..
  45. Campos E, Fresina M, Bendo E, Belli S, Versura P. [Astigmatism in ocular neuromuscular nystagmus]. Klin Monbl Augenheilkd. 2006;223:615-9 pubmed
    Data on refraction of patients with congenital nystagmus are not available in the literature. We have analysed the refractive errors in a cohort of 224 consecutive patients with congenital nystagmus, aged 1-57 years. Refractive errors, i...
  46. Akman O, Broomhead D, Abadi R, Clement R. Eye movement instabilities and nystagmus can be predicted by a nonlinear dynamics model of the saccadic system. J Math Biol. 2005;51:661-94 pubmed
    ..normal saccades, it could also simulate inaccurate saccades, and the oscillatory instability known as congenital nystagmus (CN)...
  47. Ozcelik D, Saglam I, Silan F, Sezen G, Unveren T. Anophthalmia, cleft lip/palate, absent vomer bone, nystagmus, and mental-motor retardation: a new syndrome or Fryns "anophthalmia-plus" syndrome?. Cleft Palate Craniofac J. 2008;45:256-60 pubmed publisher
    ..a 4-year-old boy presented with right unilateral complete cleft lip and palate, right anophthalmos, left congenital nystagmus, absence of the vomer bone, mental-motor retardation, and normal lymphocyte karyotype (46, XY)...
  48. Wang Z, Dell Osso L. Factors influencing pursuit ability in infantile nystagmus syndrome: Target timing and foveation capability. Vision Res. 2009;49:182-9 pubmed publisher
    ..The OMS model again demonstrated its behavioral characteristics and prediction capabilities (e.g., steady-state error) and revealed an important interaction between the Fixation and Smooth Pursuit subsystems. ..
  49. Wang Z, Dell Osso L. Eye-movement-based assessment of visual function in patients with infantile nystagmus syndrome. Optom Vis Sci. 2009;86:988-95 pubmed publisher
    ..A more complete visual function assessment should also include primary and lateral gaze eye-movement and visual acuity examinations, target acquisition time and gaze holding. ..
  50. Dell Osso L, Hertle R. Effects of extraocular muscle tenotomy on congenital nystagmus in macaque monkeys. J AAPOS. 2002;6:334-6 pubmed
  51. Bedell H. Visual and perceptual consequences of congenital nystagmus. Semin Ophthalmol. 2006;21:91-5 pubmed
    One way to assess the influence of retinal image motion on visual functioning in congenital nystagmus (CN) is to examine the effects of comparable image motion in observers with normal vision...
  52. Lee B, Kim J, Yu Y. Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia. Ophthalmic Genet. 2010;31:89-93 pubmed publisher
    ..These results show that microcephaly and chorioretinal dysplasia can be accompanied by lissencephaly, thus brain imaging should be considered in evaluating these patients. ..
  53. Teodorescu L. ANOMALOUS HEAD POSTURES IN STRABISMUS AND NYSTAGMUS DIAGNOSIS AND MANAGEMENT. Rom J Ophthalmol. 2015;59:137-40 pubmed
    ..When versions are free, the cause may be congenital nystagmus or strabismus with large angle. When versions are limited we suspect paralytic or restrictive strabismus...