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Items: 1 to 20 of 110

1.

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. No abstract available.

PMID:
23044950
2.

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.

Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle EC, Gottlob I.

Eur J Hum Genet. 2014 Mar;22(3):344-9. doi: 10.1038/ejhg.2013.162. Epub 2013 Aug 14.

3.

'Congenital' nystagmus may hide various ophthalmic diagnoses.

Holmström G, Bondeson ML, Eriksson U, Åkerblom H, Larsson E.

Acta Ophthalmol. 2014 Aug;92(5):412-6. doi: 10.1111/aos.12250. Epub 2013 Jul 29.

4.

Clinical manifestation of a novel PAX6 mutation Arg128Pro.

Bredrup C, Knappskog PM, Rødahl E, Boman H.

Arch Ophthalmol. 2008 Mar;126(3):428-30. doi: 10.1001/archopht.126.3.428. No abstract available.

PMID:
18332330
5.

Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.

Dubey SK, Mahalaxmi N, Vijayalakshmi P, Sundaresan P.

Mol Vis. 2015 Jan 27;21:88-97. eCollection 2015.

6.

Foveal development and nystagmus.

Proudlock F, Gottlob I.

Ann N Y Acad Sci. 2011 Sep;1233:292-7. doi: 10.1111/j.1749-6632.2011.06174.x.

PMID:
21951007
7.

Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology.

Lee H, Sheth V, Bibi M, Maconachie G, Patel A, McLean RJ, Michaelides M, Thomas MG, Proudlock FA, Gottlob I.

Ophthalmology. 2013 Dec;120(12):2714-24. doi: 10.1016/j.ophtha.2013.07.018. Epub 2013 Oct 22.

PMID:
24161406
8.

Isolated foveal hypoplasia: clinical presentation and imaging findings.

Karaca EE, Çubuk MÖ, Ekici F, Akçam HT, Waisbourd M, Hasanreisoğlu M.

Optom Vis Sci. 2014 Apr;91(4 Suppl 1):S61-5. doi: 10.1097/OPX.0000000000000191.

PMID:
24637485
9.

Isolated foveal hypoplasia without nystagmus.

Giocanti-Aurégan A, Witmer MT, Radcliffe NM, D'Amico DJ.

Int Ophthalmol. 2014 Aug;34(4):877-80. doi: 10.1007/s10792-014-9900-5. Epub 2014 Jan 19.

PMID:
24442758
10.

Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia.

Vincent MC, Gallai R, Olivier D, Speeg-Schatz C, Flament J, Calvas P, Dollfus H.

Am J Ophthalmol. 2004 Dec;138(6):1016-21.

PMID:
15629294
11.

Isolated foveal hypoplasia: report of a new case and detailed genetic investigation.

Al-Saleh AA, Hellani A, Abu-Amero KK.

Int Ophthalmol. 2011 Apr;31(2):117-20. doi: 10.1007/s10792-011-9424-1. Epub 2011 Jan 25.

PMID:
21264491
12.

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. doi: 10.1038/ejhg.2013.212. Epub 2013 Sep 18.

13.

Incidence of fovea plana in normal children.

Noval S, Freedman SF, Asrani S, El-Dairi MA.

J AAPOS. 2014 Oct;18(5):471-5. doi: 10.1016/j.jaapos.2014.07.157. Epub 2014 Sep 27.

PMID:
25266830
14.

A [c.566-2A>G] heterozygous mutation in the PAX6 gene causes aniridia with mild visual impairment.

Beby F, Dieterich K, Calvas P.

Eye (Lond). 2011 May;25(5):657-8. doi: 10.1038/eye.2010.234. Epub 2011 Jan 28. No abstract available.

15.

GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

Han R, Wang X, Wang D, Wang L, Yuan Z, Ying M, Li N.

Sci Rep. 2015 Jul 10;5:12031. doi: 10.1038/srep12031.

16.

Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene.

Hood MP, Kerr NC, Smaoui N, Iannaccone A.

Doc Ophthalmol. 2015 Apr;130(2):157-64. doi: 10.1007/s10633-014-9477-3. Epub 2015 Jan 3.

PMID:
25555363
17.

New best1 mutations in autosomal recessive bestrophinopathy.

Fung AT, Yzer S, Goldberg N, Wang H, Nissen M, Giovannini A, Merriam JE, Bukanova EN, Cai C, Yannuzzi LA, Tsang SH, Allikmets R.

Retina. 2015 Apr;35(4):773-82. doi: 10.1097/IAE.0000000000000387.

18.

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.

Boon CJ, van den Born LI, Visser L, Keunen JE, Bergen AA, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ.

Ophthalmology. 2013 Apr;120(4):809-20. doi: 10.1016/j.ophtha.2012.09.057. Epub 2013 Jan 3.

PMID:
23290749
19.

A novel PAX6 mutation in Chinese patients with severe congenital aniridia.

He Y, Pan Z, Luo F.

Curr Eye Res. 2012 Oct;37(10):879-83. doi: 10.3109/02713683.2012.688165. Epub 2012 May 23.

PMID:
22621390
20.

Optical coherence tomography studies provides new insights into diagnosis and prognosis of infantile nystagmus: a review.

Thomas MG, Gottlob I.

Strabismus. 2012 Dec;20(4):175-80. doi: 10.3109/09273972.2012.735336. Review.

PMID:
23211143
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