598
Views
0
CrossRef citations to date
0
Altmetric
Research Reports

Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism

ORCID Icon, , , &
Pages 243-251 | Received 20 Oct 2020, Accepted 30 Jan 2021, Published online: 17 Feb 2021

References

  • Al-Araimi M, Pal B, Poulter JA, Van Genderen MM, Carr I, Cudrnak T, Brown L, Sheridan E, Mohamed MD, Bradbury J, et al. A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. Mol Vis. 2013;19(November):2165–72.
  • Kondo H Foveal hypoplasia and optical coherence tomographic imaging. Taiwan J Ophthalmol. 2018;8(4):181.
  • Bertsch M, Floyd M, Kehoe T, Pfeifer W, Drack AV The clinical evaluation of infantile nystagmus: what to do first and why. Ophthalmic Genet. 2017 Jan 2;38(1):22–33.
  • Miki A, Yamada Y, Nakamura M The size of the foveal avascular zone is associated with foveal thickness and structure in premature children. J Ophthalmol 2019 Jul 2;2019:8340729.
  • Takagi M, Maruko I, Yamaguchi A, Kakehashi M, Hasegawa T, Iida T Foveal abnormalities determined by optical coherence tomography angiography in children with history of retinopathy of prematurity. Eye. 2019 Dec 4;33(12):1890–96.
  • Matsushita I, Nagata T, Hayashi T, Kimoto K, Kubota T, Ohji M, Kusaka S, Kondo H Foveal hypoplasia in patients with stickler syndrome. Ophthalmol 2017 Jun 124(6):896–902.
  • Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen RT Clinical characteristics, mutation spectrum, and prevalence of Åland eye disease/incomplete congenital stationary night blindness in Denmark. Investig Ophthalmol Vis Sci. 2016;57(15):6861–69.
  • Taylor D, Hoyt CS Pediatric ophthalmology and strabismus, 3rd ed. Elsevier; 2004. 423,584.
  • Cornish KS, Reddy AR, McBain VA Concentric macular rings sign in patients with foveal hypoplasia. JAMA Ophthalmol. 2014 Sep 1;132(9):1084.
  • Thomas MG, Kumar A, Mohammad S, Proudlock FA, Elizabeth C Structural grading of foveal hypoplasia using spectral domain optical coherence tomography ; a predictor of visual acuity ? Ophthalmol. 2011;118(8):1653–60.
  • Lee H, Sheth V, Bibi M, Maconachie G, Patel A, McLean RJ, Michaelides M, Thomas MG, Proudlock FA, Gottlob I Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology. Ophthalmol 2013 Dec 120(12):2714–24.
  • Kim BJ, Fulton AB The genetics and ocular findings of alagille syndrome. Semin Ophthalmol. 2007;22(4):205–10.
  • Perez Y, Gradstein L, Flusser H, Markus B, Cohen I, Langer Y, Marcus M, Lifshitz T, Kadir R, Birk O Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation. Eur J Hum Genet. 2013;22(5):703–06.
  • Thomas S, Proudlock FA, Sarvananthan N, Roberts EO, Awan M, Mclean R, Surendran M, Kumar ASA, Farooq SJ, Degg C, et al.Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7 2008;1–9.
  • Poulter JA, Al-Araimi M, Conte I, Van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, et al. Recessive mutations in SLC38a8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet. 2013 Dec 5;93(6):1143–50.
  • Cunha DL, Arno G, Corton M, Moosajee M The spectrum of PAX6 mutations and genotype-phenotype correlations in the eye. Genes (Basel) 2019;10(12).
  • Yahalom C, Blumenfeld A, Hendler K, Wussuki-lior O, Macarov M, Shohat M Mild aniridia phenotype : an under-recognized diagnosis of a severe inherited ocular disease. Graefe’s Arch Clin Exp Ophthalmol 2018;256:2157–64.
  • Taek H, Hee D, Kim H PAX6 aniridia syndrome : clinics, genetics, and therapeutics. Curr Opin Ophthalmol. 2017;28(5):436–47.
  • Marmor MF, Choi SS, Zawadzki RJ, Werner JS Visual insignificance of the foveal pit: reassessment of foveal hypoplasia as fovea plana. Arch Ophthalmol. 2008 Jul 14;126(7):907–13.
  • Noval S, Freedman SF, Asrani S, El-Dairi MA Incidence of fovea plana in normal children. J AAPOS Off Publ Am Assoc Pediatr Ophthalmol Strabismus 2014 Oct 18(5):471–75.
  • Weiner C, Hecht I, Rotenstreich Y, Guttman S, Or L The pathogenicity of SLC38A8 in fi ve families with foveal hypoplasia and congenital nystagmus. Exp Eye Res. 2020;193(February):107958.
  • Wang GM, Prasov L, Al-Hasani H, Marrs CER, Tolia S, Wiinikka-Buesser L, Richards JE, Bohnsack BL Phenotypic variation in a four-generation family with aniridia carrying a novel PAX6 mutation. J Ophthalmol 2018 Apr 4;2018:5978293.
  • Moosajee M, Hingorani M, Moore AT PAX6-related aniridia. genereviews®. University of Washington, Seattle; 1993.
  • Goolam S, Carstens N, Ross M, Bentley D, Lopes M, Peden J, Kingsbury Z, Tsogka E, Barlow R, Carmichael TR, et al. Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family. Mol Vis 2018;24:407.
  • Zhang R, Linpeng S, Wei X, Li H, Huang Y, Guo J, Wu Q, Liang D, Wu L Novel variants in PAX6 gene caused congenital aniridia in two Chinese families. Eye. 2017;31(6):956
  • Kumar A, Gottlob I, Mclean RJ, Thomas S, Thomas MG, Proudlock FA Clinical and oculomotor characteristics of albinism compared to FRMD7 associated infantile nystagmus. Invest Ophthalmol Vis Sci. 2018;52(5):2306–13.
  • Campbell P, Ellingford JM, Parry NRA, Fletcher T, Ramsden SC, Gale T, Hall G, Smith K, Dalia K, Thomas E, et al. Clinical and genetic variability in children with partial albinism. Sci Rep 2019;9:1–10.
  • Lenassi E, Clayton-Smith J, Douzgou S, Ramsden SC, Ingram S, Hall G, Hardcastle CL, Fletcher TA, Taylor RL, Ellingford JM, et al. Clinical utility of genetic testing in 201 preschool children with inherited eye disorders. Genet Med. 2020 Apr;22(4):745.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.