Literature DB >> 24442758

Isolated foveal hypoplasia without nystagmus.

Audrey Giocanti-Aurégan1, Matthew T Witmer, Nathan M Radcliffe, Donald J D'Amico.   

Abstract

We report the case of a 23-year-old healthy Caucasian male with isolated foveal hypoplasia without nystagmus. Clinical examination and spectral-domain optical coherence tomography demonstrated the bilateral absence of a foveal depression and the patient was diagnosed with isolated foveal hypoplasia. This is a rare condition which is probably under-diagnosed since it can exist without nystagmus and low vision.

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Year:  2014        PMID: 24442758     DOI: 10.1007/s10792-014-9900-5

Source DB:  PubMed          Journal:  Int Ophthalmol        ISSN: 0165-5701            Impact factor:   2.031


  12 in total

1.  Optical coherence tomography in the diagnosis of foveal hypoplasia.

Authors:  Franco M Recchia; Cynthia A Carvalho-Recchia; Michael T Trese
Journal:  Arch Ophthalmol       Date:  2002-11

2.  Assessment of macular function for idiopathic epiretinal membranes classified by spectral-domain optical coherence tomography.

Authors:  Jong-Uk Hwang; Joonhong Sohn; Byung Gil Moon; Soo Geun Joe; Joo Yong Lee; June-Gone Kim; Young Hee Yoon
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-06-14       Impact factor: 4.799

3.  Isolated foveal hypoplasia.

Authors:  R E Curran; R M Robb
Journal:  Arch Ophthalmol       Date:  1976-01

4.  Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

Authors:  Melanie Hingorani; Kathleen A Williamson; Anthony T Moore; Veronica van Heyningen
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-02-14       Impact factor: 4.799

5.  PAX6 missense mutation in isolated foveal hypoplasia.

Authors:  N Azuma; S Nishina; H Yanagisawa; T Okuyama; M Yamada
Journal:  Nat Genet       Date:  1996-06       Impact factor: 38.330

6.  Isolated foveal hypoplasia.

Authors:  M D Oliver; S A Dotan; J Chemke; F A Abraham
Journal:  Br J Ophthalmol       Date:  1987-12       Impact factor: 4.638

7.  The morphological development of the human fovea.

Authors:  A E Hendrickson; C Yuodelis
Journal:  Ophthalmology       Date:  1984-06       Impact factor: 12.079

8.  Maturation of the human fovea: correlation of spectral-domain optical coherence tomography findings with histology.

Authors:  Lejla Vajzovic; Anita E Hendrickson; Rachelle V O'Connell; Laura A Clark; Du Tran-Viet; Daniel Possin; Stephanie J Chiu; Sina Farsiu; Cynthia A Toth
Journal:  Am J Ophthalmol       Date:  2012-08-13       Impact factor: 5.258

9.  Variable expressivity of ocular associations of foveal hypoplasia in a family.

Authors:  A Vincent; V Kemmanu; R Shetty; V Anandula; B Madhavarao; B Shetty
Journal:  Eye (Lond)       Date:  2009-07-10       Impact factor: 3.775

10.  Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?

Authors:  Mervyn G Thomas; Anil Kumar; Sarim Mohammad; Frank A Proudlock; Elizabeth C Engle; Caroline Andrews; Wai-Man Chan; Shery Thomas; Irene Gottlob
Journal:  Ophthalmology       Date:  2011-04-29       Impact factor: 12.079

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  4 in total

1.  [Thickening or hypoplasia of the fovea].

Authors:  A Nessmann; C Schramm; F Gelisken
Journal:  Ophthalmologe       Date:  2016-06       Impact factor: 1.059

2.  Multicolour imaging in isolated foveal hypoplasia.

Authors:  Ramesh Venkatesh; Kushagra Jain; Naresh Kumar Yadav
Journal:  Indian J Ophthalmol       Date:  2020-01       Impact factor: 1.848

3.  Discordant phenotypes in twins with infantile nystagmus.

Authors:  Abdullah Aamir; Helen J Kuht; Rebecca J McLean; Gail D E Maconachie; Viral Sheth; Basu Dawar; Ravi Purohit; Nicolas Sylvius; Michael Hisaund; Alina Zubcov-Iwantscheff; Frank A Proudlock; Irene Gottlob; Mervyn G Thomas
Journal:  Sci Rep       Date:  2021-02-02       Impact factor: 4.379

4.  Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia.

Authors:  Xiying Mao; Mingkang Chen; Yan Yu; Qinghuai Liu; Songtao Yuan; Wen Fan
Journal:  BMC Ophthalmol       Date:  2021-03-30       Impact factor: 2.209

  4 in total

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