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Nystagmus, congenital, autosomal recessive

MedGen UID:
462921
•Concept ID:
C3151571
•
Disease or Syndrome
Synonym: Nystagmus, congenital motor, autosomal recessive
 
Gene (location): 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

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

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: 27063057Free 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: 17980020Free 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

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
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: 22190596Free 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: 17980020Free PMC Article
Autosomal dominant congenital nystagmus is not linked to 6p12, 7p11, and 15q11 in a German family.
Hoffmann S, Becker A, Hoerle S, Metz A, Oertel WH, Sommer N, Hemmer B
Am J Ophthalmol 2004 Sep;138(3):439-43. doi: 10.1016/j.ajo.2004.04.065. PMID: 15364228

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: 31296181Free 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

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
Joubert syndrome: report of 11 cases.
İncecik F, Hergüner MÖ, Altunbaşak Ş, Gleeson JG
Turk J Pediatr 2012 Nov-Dec;54(6):605-11. PMID: 23692786Free 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: 21959366Free 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: 18922146Free 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

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: 22190596Free PMC Article
Autosomal dominant congenital nystagmus is not linked to 6p12, 7p11, and 15q11 in a German family.
Hoffmann S, Becker A, Hoerle S, Metz A, Oertel WH, Sommer N, Hemmer B
Am J Ophthalmol 2004 Sep;138(3):439-43. doi: 10.1016/j.ajo.2004.04.065. PMID: 15364228
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

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