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Nystagmus, congenital, autosomal recessive(NYS8)

MedGen UID:: 462921
•Concept ID:: C3151571
•: Disease or Syndrome

Synonym:	Nystagmus, congenital motor, autosomal recessive

Gene (location): Gene(s) directly associated with this condition or phenotype.	ROBO1 (3p12.3)

Monarch Initiative:	MONDO:0009762
OMIM®:	257400

Definition

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). [from OMIM]

Clinical features

From HPO

Nystagmus

MedGen UID:: 45166
•Concept ID:: C0028738
•: Disease or Syndrome

Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

See: Feature record | Search on this feature

Congenital nystagmus

MedGen UID:: 195995
•Concept ID:: C0700501
•: Congenital Abnormality

Nystagmus dating from or present at birth.

See: Feature record | Search on this feature

Abnormality of the eye
- Congenital nystagmus
- Nystagmus

Professional guidelines

PubMed

Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.

Katta M, de Guimaraes TAC, Fujinami-Yokokawa Y, Fujinami K, Georgiou M, Mahroo OA, Webster AR, Michaelides M
Ophthalmol Retina 2024 Sep;8(9):932-941. Epub 2024 Mar 24 doi: 10.1016/j.oret.2024.03.017. PMID: 38522615 Free PMC Article

Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.

Yi Z, Sun W, Xiao X, Li S, Jia X, Li X, Yu B, Wang P, Zhang Q
Exp Eye Res 2021 Jul;208:108637. Epub 2021 May 26 doi: 10.1016/j.exer.2021.108637. PMID: 34048777

See all (2)

Recent clinical studies

Etiology

Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.

Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.

Wang J, Li S, Jiang Y, Wang Y, Ouyang J, Yi Z, Sun W, Jia X, Xiao X, Wang P, Zhang Q
Am J Ophthalmol 2023 Aug;252:188-204. Epub 2023 Mar 27 doi: 10.1016/j.ajo.2023.03.025. PMID: 36990420

Rod Monochromatism (Achromatopsia).

Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:119-123. doi: 10.1007/978-3-319-95046-4_24. PMID: 30578497

Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.

Neuillé M, Malaichamy S, Vadalà M, Michiels C, Condroyer C, Sachidanandam R, Srilekha S, Arokiasamy T, Letexier M, Démontant V, Sahel JA, Sen P, Audo I, Soumittra N, Zeitz C
Clin Genet 2016 Jun;89(6):690-9. Epub 2016 Mar 4 doi: 10.1111/cge.12746. PMID: 26822852

Oculocutaneous albinism.

Grønskov K, Ek J, Brondum-Nielsen K
Orphanet J Rare Dis 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. PMID: 17980020 Free PMC Article

See all (37)

Diagnosis

Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the SACS Gene.

Srikajon J, Pitakpatapee Y, Limwongse C, Chirapapaisan N, Srivanitchapoom P
Tremor Other Hyperkinet Mov (N Y) 2020 Jun 8;10:1. doi: 10.5334/tohm.68. PMID: 32775015 Free PMC Article

Ciliopathy: Alström Syndrome.

Tsang SH, Aycinena ARP, Sharma T
Adv Exp Med Biol 2018;1085:179-180. doi: 10.1007/978-3-319-95046-4_35. PMID: 30578508

Spectral-domain optical coherence tomographic characteristics of autosomal recessive isolated foveal hypoplasia.

Saffra N, Agarwal S, Chiang JP, Masini R, Bertolucci A
Arch Ophthalmol 2012 Oct;130(10):1324-7. doi: 10.1001/archophthalmol.2012.1807. PMID: 23044950

Oculocutaneous albinism.

Grønskov K, Ek J, Brondum-Nielsen K
Orphanet J Rare Dis 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. PMID: 17980020 Free PMC Article

See all (69)

Therapy

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.

Li X, Cheng Q, Ding Y, Li Q, Yao R, Wang J, Wang X
BMC Pediatr 2019 Jul 11;19(1):233. doi: 10.1186/s12887-019-1608-2. PMID: 31296181 Free PMC Article

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.

Zelinger L, Cideciyan AV, Kohl S, Schwartz SB, Rosenmann A, Eli D, Sumaroka A, Roman AJ, Luo X, Brown C, Rosin B, Blumenfeld A, Wissinger B, Jacobson SG, Banin E, Sharon D
Ophthalmology 2015 May;122(5):997-1007. Epub 2015 Jan 21 doi: 10.1016/j.ophtha.2014.11.025. PMID: 25616768

The neurology of carbonic anhydrase type II deficiency syndrome.

Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK
Brain 2011 Dec;134(Pt 12):3502-15. Epub 2011 Nov 26 doi: 10.1093/brain/awr302. PMID: 22120147

See all (3)

Prognosis

Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.

Leber Congenital Amaurosis.

Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:131-137. doi: 10.1007/978-3-319-95046-4_26. PMID: 30578499

Ocular manifestations of trichothiodystrophy.

Brooks BP, Thompson AH, Clayton JA, Chan CC, Tamura D, Zein WM, Blain D, Hadsall C, Rowan J, Bowles KE, Khan SG, Ueda T, Boyle J, Oh KS, DiGiovanna JJ, Kraemer KH
Ophthalmology 2011 Dec;118(12):2335-42. Epub 2011 Sep 28 doi: 10.1016/j.ophtha.2011.05.036. PMID: 21959366 Free PMC Article

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).

Desir J, Abramowicz M
Orphanet J Rare Dis 2008 Oct 15;3:28. doi: 10.1186/1750-1172-3-28. PMID: 18922146 Free PMC Article

Successful RPE65 gene replacement and improved visual function in humans.

Koenekoop RK
Ophthalmic Genet 2008 Sep;29(3):89-91. doi: 10.1080/13816810802216480. PMID: 18766986

See all (24)

Clinical prediction guides

Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.

de Freitas JL, Rezende Filho FM, Sallum JMF, França MC Jr, Pedroso JL, Barsottini OGP
J Neurol Sci 2020 Feb 15;409:116620. Epub 2019 Dec 6 doi: 10.1016/j.jns.2019.116620. PMID: 31865189

Rod Monochromatism (Achromatopsia).

Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:119-123. doi: 10.1007/978-3-319-95046-4_24. PMID: 30578497

GNAT1 associated with autosomal recessive congenital stationary night blindness.

Naeem MA, Chavali VR, Ali S, Iqbal M, Riazuddin S, Khan SN, Husnain T, Sieving PA, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA
Invest Ophthalmol Vis Sci 2012 Mar;53(3):1353-61. Epub 2012 Mar 13 doi: 10.1167/iovs.11-8026. PMID: 22190596 Free PMC Article

Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25.

Jen J, Coulin CJ, Bosley TM, Salih MA, Sabatti C, Nelson SF, Baloh RW
Neurology 2002 Aug 13;59(3):432-5. doi: 10.1212/wnl.59.3.432. PMID: 12177379

Hypomagnesaemia of hereditary renal origin.

Rodríguez-Soriano J, Vallo A, García-Fuentes M
Pediatr Nephrol 1987 Jul;1(3):465-72. doi: 10.1007/BF00849255. PMID: 3153319

See all (30)

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Nystagmus, congenital, autosomal recessive(NYS8)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Molecular resources

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