Literature DB >> 7713248

Dominantly inherited drusen represent more than one disorder: a historical review.

B Piguet1, R Haimovici, A C Bird.   

Abstract

Hutchinson-Tay choroiditis, Holthouse-Batten chorioretinitis, Doyne's honeycomb familial choroiditis and Malattia levantinese are various names which have been used to denote dominantly inherited drusen. Whether these represent one or more than one disorder remains unclear because of the quality of the illustrations and incomplete information in some of the original articles. The early descriptions of these various conditions have been reviewed. Evidence is presented that Doyne's honeycomb familial choroiditis and Malattia levantinese are disorders which can be distinguished from each other by clinical criteria.

Entities:  

Mesh：

Year:  1995        PMID： 7713248     DOI： 10.1038/eye.1995.5

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN： 0950-222X            Impact factor:   3.775


  15 in total

1.  Central areolar choroidal dystrophy associated with dominantly inherited drusen.

Authors:  B Jeroen Klevering; Marc van Driel; August J M van Hogerwou; Dorien J R van De Pol; August F Deutman; Alfred J L G Pinckers; Frans P M Cremers; Carel B Hoyng
Journal:  Br J Ophthalmol       Date:  2002-01       Impact factor: 4.638

2.  Activation of the mitochondrial caspase pathway and subsequent calpain activation in monkey RPE cells cultured under zinc depletion.

Authors:  E Nakajima; K B Hammond; T R Shearer; M Azuma
Journal:  Eye (Lond)       Date:  2013-11-08       Impact factor: 3.775

3.  Multimodal morphological and functional characterization of Malattia Leventinese.

Authors:  Giuseppe Querques; Benjamin Guigui; Nicolas Leveziel; Lea Querques; Francesco Bandello; Eric H Souied
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2012-07-20       Impact factor: 3.117

4.  A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration.

Authors:  Venkata R M Chavali; Naheed W Khan; Catherine A Cukras; Dirk-Uwe Bartsch; Monica M Jablonski; Radha Ayyagari
Journal:  Hum Mol Genet       Date:  2011-02-24       Impact factor: 6.150

5.  Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration.

Authors:  John D Hulleman; Jeffery W Kelly
Journal:  FASEB J       Date:  2014-11-11       Impact factor: 5.191

6.  Molecular genetic heterogeneity in autosomal dominant drusen.

Authors:  E E Tarttelin; C Y Gregory-Evans; A C Bird; R G Weleber; M L Klein; J Blackburn; K Gregory-Evans
Journal:  J Med Genet       Date:  2001-06       Impact factor: 6.318

7.  A local complement response by RPE causes early-stage macular degeneration.

Authors:  Rosario Fernandez-Godino; Donita L Garland; Eric A Pierce
Journal:  Hum Mol Genet       Date:  2015-07-21       Impact factor: 6.150

8.  Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.

Authors:  Lihua Y Marmorstein; Francis L Munier; Yvan Arsenijevic; Daniel F Schorderet; Precious J McLaughlin; Daniel Chung; Elias Traboulsi; Alan D Marmorstein
Journal:  Proc Natl Acad Sci U S A       Date:  2002-09-19       Impact factor: 11.205

9.  AMD-like retinopathy associated with intravenous iron.

Authors:  Delu Song; Levi N Kanu; Yafeng Li; Kristen L Kelly; Rupak K Bhuyan; Tomas Aleman; Jessica I W Morgan; Joshua L Dunaief
Journal:  Exp Eye Res       Date:  2016-08-23       Impact factor: 3.467

10.  Indocyanine green angiography features of Malattia leventinese.

Authors:  E H Souied; N Leveziel; G Querques; J Darmon; G Coscas; G Soubrane
Journal:  Br J Ophthalmol       Date:  2006-03       Impact factor: 4.638
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