Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

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

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 (1)

Recent clinical studies

Etiology

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

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E
Am J Hum Genet 2016 May 5;98(5):1011-1019. Epub 2016 Apr 7 doi: 10.1016/j.ajhg.2016.03.021. PMID: 27063057 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

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

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 (32)

Diagnosis

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

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.

Mayer AK, Mahajnah M, Thomas MG, Cohen Y, Habib A, Schulze M, Maconachie GDE, AlMoallem B, De Baere E, Lorenz B, Traboulsi EI, Kohl S, Azem A, Bauer P, Gottlob I, Sharkia R, Wissinger B
Brain 2019 Jun 1;142(6):1528-1534. doi: 10.1093/brain/awz098. PMID: 31009037 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

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

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 (63)

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

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

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.

Perez Y, Gradstein L, Flusser H, Markus B, Cohen I, Langer Y, Marcus M, Lifshitz T, Kadir R, Birk OS
Eur J Hum Genet 2014 May;22(5):703-6. Epub 2013 Sep 18 doi: 10.1038/ejhg.2013.212. PMID: 24045842 Free PMC Article

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