Literature DB >> 18401554

Isolated foveal hypoplasia.

Giuseppe Querques1, Francesco Prascina, Cristiana Iaculli, Nicola Delle Noci.   

Abstract

PURPOSE: To describe a patient with isolated foveal hypoplasia.
METHODS: A 55-year-old man with the clinical suspicion of foveal hypoplasia was given a complete ophthalmological examination, including optical coherence tomography (OCT), fluorescein angiography (FA) and fundus-related perimetry (FRP). Mutation screening for oculocutaneous albinism and aniridia was also performed, but the results were negative for both.
RESULTS: Following a complete ophthalmological examination and genetic studies, we were able to confirm the clinical suspicion of isolated foveal hypoplasia in this otherwise healthy patient.
CONCLUSIONS: With this report we want to highlight the roles of OCT, FA and FRP in the diagnosis of such a singular condition as isolated foveal hypoplasia.

Entities:  

Mesh:

Year:  2008        PMID: 18401554     DOI: 10.1007/s10792-008-9215-5

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


  11 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.  Isolated foveal hypoplasia detected by optical coherence tomography.

Authors:  Vasumathy Vedantham
Journal:  Indian J Ophthalmol       Date:  2005-12       Impact factor: 1.848

3.  Idiopathic macular hypoplasia: a report of four cases and refinement of the phenotype of so-called ateliotic macula.

Authors:  J El Annan; A Marcotty; P Mitchell; E I Traboulsi
Journal:  Eur J Ophthalmol       Date:  2006 Sep-Oct       Impact factor: 2.597

4.  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

5.  Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region.

Authors:  C C Ton; H Hirvonen; H Miwa; M M Weil; P Monaghan; T Jordan; V van Heyningen; N D Hastie; H Meijers-Heijboer; M Drechsler
Journal:  Cell       Date:  1991-12-20       Impact factor: 41.582

6.  The fine structure of the retinal transient layer of Chievitz.

Authors:  G K Smelser; V Ozanics; M Rayborn; D Sagun
Journal:  Invest Ophthalmol       Date:  1973-07

7.  The ateliotic macula: a newly recognized developmental anomaly.

Authors:  M E De Pool; H el-Hileli; I H Maumenee
Journal:  Trans Am Ophthalmol Soc       Date:  2001

8.  Foveal hypoplasia in oculocutaneous albinism demonstrated by optical coherence tomography.

Authors:  Carsten H Meyer; Deborah J Lapolice; Sharon F Freedman
Journal:  Am J Ophthalmol       Date:  2002-03       Impact factor: 5.258

Review 9.  The master control gene for morphogenesis and evolution of the eye.

Authors:  W J Gehring
Journal:  Genes Cells       Date:  1996-01       Impact factor: 1.891

10.  Foveal hypoplasia demonstrated in vivo with optical coherence tomography.

Authors:  Desmond E McGuire; Robert N Weinreb; Michael H Goldbaum
Journal:  Am J Ophthalmol       Date:  2003-01       Impact factor: 5.258

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

Authors:  Ahmed A Al-Saleh; Ali Hellani; Khaled K Abu-Amero
Journal:  Int Ophthalmol       Date:  2011-01-25       Impact factor: 2.031

3.  [Retinal thickening in a 6-year-old boy].

Authors:  Sören Waibel; Lutz E Pillunat; Egbert Matthé
Journal:  Ophthalmologe       Date:  2019-11       Impact factor: 1.059

4.  Idiopathic, isolated fovea plana with bilateral off-centre multifocal ERGs.

Authors:  Alice D McTrusty; Daphne L McCulloch; Niall C Strang; Angela McCall; Stuart Parks; Alison Brown; Graeme J Kennedy
Journal:  Doc Ophthalmol       Date:  2013-02-19       Impact factor: 2.379

5.  Isolated foveal hypoplasia without nystagmus.

Authors:  Audrey Giocanti-Aurégan; Matthew T Witmer; Nathan M Radcliffe; Donald J D'Amico
Journal:  Int Ophthalmol       Date:  2014-01-19       Impact factor: 2.031

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

Authors:  Yonatan Perez; Libe Gradstein; Hagit Flusser; Barak Markus; Idan Cohen; Yshaia Langer; Mira Marcus; Tova Lifshitz; Rotem Kadir; Ohad S Birk
Journal:  Eur J Hum Genet       Date:  2013-09-18       Impact factor: 4.246

7.  Spectral domain optical coherence tomography and microperimetry in foveal hypoplasia.

Authors:  Swakshyar Saumya Pal; Laxmi Gella; Tarun Sharma; Rajiv Raman
Journal:  Indian J Ophthalmol       Date:  2011 Nov-Dec       Impact factor: 1.848

Review 8.  Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis.

Authors:  Pedro Calvão-Pires; R Santos-Silva; F Falcão-Reis; A Rocha-Sousa
Journal:  Int Sch Res Notices       Date:  2014-10-29

9.  The Diagnostic Role of Multimodal Imaging Techniques in Isolated Foveal Hypoplasia.

Authors:  Figen Batıoğlu; Sibel Demirel; Emin Özmert; Betül Bayraktutar; Özge Yanık
Journal:  Turk J Ophthalmol       Date:  2017-10-27
  9 in total

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