Literature DB >> 1410836

Foveal hypoplasia in complete oculocutaneous albinism. A histopathologic study.

H Mietz1, W R Green, S M Wolff, G P Abundo.   

Abstract

Histopathologic and ultrastructural findings in an eye from a patient with complete oculocutaneous albinism are reported. Examination revealed posterior embryotoxon, high myopia, no foveal differentiation, and absence of melanin pigment in all ocular structures. A few nonmembrane-bound electron-dense granules of lipofuscin were present in the iris and retinal pigment epithelial cells.

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Mesh：

Year:  1992        PMID： 1410836     DOI： 10.1097/00006982-199212030-00011

Source DB:  PubMed          Journal:  Retina        ISSN： 0275-004X            Impact factor:   4.256


  7 in total

Review 1.  Oculocutaneous albinism.

Authors:  S Biswas; I C Lloyd
Journal:  Arch Dis Child       Date:  1999-06       Impact factor: 3.791

2.  A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus.

Authors:  Ungsoo Samuel Kim; Eunhae Cho; Hyon J Kim
Journal:  Int J Ophthalmol       Date:  2016-09-18       Impact factor: 1.779

3.  Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.

Authors:  Helen J Kuht; Gail D E Maconachie; Jinu Han; Line Kessel; Maria M van Genderen; Rebecca J McLean; Michael Hisaund; Zhanhan Tu; Richard W Hertle; Karen Gronskov; Dayong Bai; Aihua Wei; Wei Li; Yonghong Jiao; Vasily Smirnov; Jae-Hwan Choi; Martin D Tobin; Viral Sheth; Ravi Purohit; Basu Dawar; Ayesha Girach; Sasha Strul; Laura May; Fred K Chen; Rachael C Heath Jeffery; Abdullah Aamir; Ronaldo Sano; Jing Jin; Brian P Brooks; Susanne Kohl; Benoit Arveiler; Lluis Montoliu; Elizabeth C Engle; Frank A Proudlock; Garima Nishad; Prateek Pani; Girish Varma; Irene Gottlob; Mervyn G Thomas
Journal:  Ophthalmology       Date:  2022-02-11       Impact factor: 14.277

4.  Spectral domain optical coherence tomography for detection of foveal morphology in patients with nystagmus.

Authors:  Tara H Cronin; Richard W Hertle; Hiroshi Ishikawa; Joel S Schuman
Journal:  J AAPOS       Date:  2009-12       Impact factor: 1.220

5.  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

6.  Polarization sensitive optical coherence tomography of melanin provides intrinsic contrast based on depolarization.

Authors:  Bernhard Baumann; Stefan O Baumann; Thomas Konegger; Michael Pircher; Erich Götzinger; Ferdinand Schlanitz; Christopher Schütze; Harald Sattmann; Marco Litschauer; Ursula Schmidt-Erfurth; Christoph K Hitzenberger
Journal:  Biomed Opt Express       Date:  2012-06-21       Impact factor: 3.732

7.  Morphology of foveal hypoplasia: Hyporeflective zones in the Henle fiber layer of eyes with high-grade foveal hypoplasia.

Authors:  Andreas Bringmann; Thomas Barth; Focke Ziemssen
Journal:  PLoS One       Date:  2022-04-13       Impact factor: 3.240
  7 in total

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