Literature DB >> 8600424

Schnyder crystalline dystrophy sine crystals. Recommendation for a revision of nomenclature.

J S Weiss1.   

Abstract

PURPOSE: To determine the percentage of patients with Schnyder crystal line dystrophy who had corneal crystal deposition.
METHODS: Thirty-three patients with Schnyder crystalline dystrophy were identified by the author since 1987. Each patient had a complete ophthalmic evaluation, including slit-lamp examination by the author.
RESULTS: Only 51% (17 of 33) of patients with Schnyder crystalline corneal dystrophy actually had clinical evidence of corneal crystalline deposits.
CONCLUSIONS: Because of the confusing nomenclature, many ophthalmologists presume that the presence of corneal crystals is an integral part of the diagnosis of Schnyder crystalline dystrophy. The clinician should be aware that despite the fact that the noncrystalline form of the dystrophy has been poorly recognized, it is equally common.

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Year:  1996        PMID: 8600424     DOI: 10.1016/s0161-6420(96)30670-2

Source DB:  PubMed          Journal:  Ophthalmology        ISSN: 0161-6420            Impact factor:   12.079


  13 in total

1.  [Schnyder's crystalline corneal dystrophy. Further narrowing of the linkage interval at chromosome 1p34.1-p36?].

Authors:  P Riebeling; S Polz; F Tost; J S Weiss; H Kuivaniemi; M Hoeltzenbein
Journal:  Ophthalmologe       Date:  2003-11       Impact factor: 1.059

2.  A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.

Authors:  Yang Jing; Chun Liu; Junmin Xu; Liya Wang
Journal:  Mol Vis       Date:  2009-07-29       Impact factor: 2.367

3.  UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

Authors:  Michael L Nickerson; Brittany N Kostiha; Wolfgang Brandt; William Fredericks; Ke-Ping Xu; Fu-Shin Yu; Bert Gold; James Chodosh; Marc Goldberg; Da Wen Lu; Masakazu Yamada; Timo M Tervo; Richard Grutzmacher; Chris Croasdale; Maria Hoeltzenbein; John Sutphin; S Bruce Malkowicz; Ludger Wessjohann; Howard S Kruth; Michael Dean; Jayne S Weiss
Journal:  PLoS One       Date:  2010-05-21       Impact factor: 3.240

4.  Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis).

Authors:  Jayne S Weiss
Journal:  Trans Am Ophthalmol Soc       Date:  2007

5.  Quantitative analysis of lipid deposits from Schnyder's corneal dystrophy.

Authors:  M Yamada; H Mochizuki; Y Kamata; Y Nakamura; Y Mashima
Journal:  Br J Ophthalmol       Date:  1998-04       Impact factor: 4.638

Review 6.  The IC3D classification of the corneal dystrophies.

Authors:  Jayne S Weiss; H U Møller; Walter Lisch; Shigeru Kinoshita; Anthony J Aldave; Michael W Belin; Tero Kivelä; Massimo Busin; Francis L Munier; Berthold Seitz; John Sutphin; Cecilie Bredrup; Mark J Mannis; Christopher J Rapuano; Gabriel Van Rij; Eung Kweon Kim; Gordon K Klintworth
Journal:  Cornea       Date:  2008-12       Impact factor: 2.651

7.  Fine mapping of the Schnyder's crystalline corneal dystrophy locus.

Authors:  Veena Theendakara; Gerard Tromp; Helena Kuivaniemi; Peter S White; Seema Panchal; Jennifer Cox; R Scott Winters; Petra Riebeling; Frank Tost; Maria Hoeltzenbein; Timo M Tervo; Wolfram Henn; Elke Denniger; Matthias Krause; Murat Koksal; Sebnem Kargi; Suat H Ugurbas; Terho Latvala; Amanda M Shearman; Jayne S Weiss
Journal:  Hum Genet       Date:  2004-03-19       Impact factor: 4.132

8.  Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F).

Authors:  Huda Al-Ghadeer; Jawahir Y Mohamed; Arif O Khan
Journal:  Middle East Afr J Ophthalmol       Date:  2011-01

9.  Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

Authors:  Andrew Orr; Marie-Pierre Dubé; Julien Marcadier; Haiyan Jiang; Antonio Federico; Stanley George; Christopher Seamone; David Andrews; Paul Dubord; Simon Holland; Sylvie Provost; Vanessa Mongrain; Susan Evans; Brent Higgins; Sharen Bowman; Duane Guernsey; Mark Samuels
Journal:  PLoS One       Date:  2007-08-01       Impact factor: 3.240

10.  Analysis of conjunctival fibroblasts from a proband with Schnyder corneal dystrophy.

Authors:  Jodhbir S Mehta; Eranga N Vithana; Divya Venkataraman; Anandalakshmi Venkatraman; Rebekah Poh; Roger W Beuerman; Tin Aung; Donald T H Tan
Journal:  Mol Vis       Date:  2008-07-09       Impact factor: 2.367

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