Literature DB >> 3778863

Histopathology of mitochondrial cytopathy and the Laurence-Moon-Biedl syndrome.

P Runge, D Calver, J Marshall, D Taylor.   

Abstract

Clinical and histopathological studies of two patients with distinctly different inherited juvenile retinal dystrophies indicate that the ocular defect in mitochondrial cytopathy involves the underlying pigment epithelium, whereas in the Laurence-Moon-Biedl syndrome the photoreceptor cells are primarily affected.

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Year:  1986        PMID: 3778863      PMCID: PMC1040828          DOI: 10.1136/bjo.70.10.782

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN: 0007-1161            Impact factor:   4.638


  50 in total

1.  Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block. Report of a case, with findings at autopsy.

Authors:  B V JAGER; H L FRED; R B BUTLER; W H CARNES
Journal:  Am J Med       Date:  1960-11       Impact factor: 4.965

2.  External Ophthalmoplegia, Pigmentary Degeneration of the Retina, and Cardiomyopathy: A Newly Recognized Syndrome.

Authors:  T P Kearns
Journal:  Trans Am Ophthalmol Soc       Date:  1965

3.  Ophthalmoplegia plus with morphological and chemical studies of cerebellar and muscle tissue.

Authors:  L Schneck; M Adachi; P Briet; A Wolintz; B W Volk
Journal:  J Neurol Sci       Date:  1973-05       Impact factor: 3.181

4.  Laurence-Moon-Bardet-Biedl syndrome in Israel.

Authors:  E N Ehrenfeld; H Rowe; E Auerbach
Journal:  Am J Ophthalmol       Date:  1970-10       Impact factor: 5.258

5.  Retinitis pigmentosa: a preliminary report on tissue culture studies of retinal pigment epithelial cells from eight affected human eyes.

Authors:  M E Boulton; J Marshall; J Mellerio
Journal:  Exp Eye Res       Date:  1983-09       Impact factor: 3.467

6.  Retinitis pigmentosa: a quantitative study of the apical membrane of normal and dystrophic human retinal pigment epithelial cells in tissue culture in relation to phagocytosis.

Authors:  M Boulton; J Marshall; J Mellerio
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1984       Impact factor: 3.117

7.  Renal histopathological changes in a child with Laurence-Moon-Biedl syndrome.

Authors:  B Falkner; C Langman; S Katz
Journal:  J Clin Pathol       Date:  1977-11       Impact factor: 3.411

8.  Autosomal dominant Kearns-Sayre syndrome.

Authors:  A S Leveille; F W Newell
Journal:  Ophthalmology       Date:  1980-02       Impact factor: 12.079

9.  Orbicularis oculi muscle in chronic progressive external ophthalmoplegia.

Authors:  J Eshaghian; R L Anderson; T A Weingeist; M N Hart; P A Cancilla
Journal:  Arch Ophthalmol       Date:  1980-06

10.  Extraocular muscle biopsy in chronic progressive external ophthalmoplegia.

Authors:  S P Ringel; W B Wilson; M T Barden
Journal:  Ann Neurol       Date:  1979-10       Impact factor: 10.422

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  7 in total

1.  Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.

Authors:  Christina Gerth; Robert J Zawadzki; John S Werner; Elise Héon
Journal:  Vision Res       Date:  2007-11-05       Impact factor: 1.886

2.  Therapeutic photobiomodulation for methanol-induced retinal toxicity.

Authors:  J T Eells; M M Henry; P Summerfelt; M T T Wong-Riley; E V Buchmann; M Kane; N T Whelan; H T Whelan
Journal:  Proc Natl Acad Sci U S A       Date:  2003-03-07       Impact factor: 11.205

3.  Clinical pathology and retinal vascular structure in the Bardet-Biedl syndrome.

Authors:  T Bek; T Rosenberg
Journal:  Br J Ophthalmol       Date:  1995-01       Impact factor: 4.638

4.  Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies.

Authors:  I-Chun Tsai; Kevin A Adams; Joyce A Tzeng; Omar Shennib; Perciliz L Tan; Nicholas Katsanis
Journal:  JCI Insight       Date:  2019-11-14

5.  Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.

Authors:  Muhammad M Abd-El-Barr; Kristen Sykoudis; Sara Andrabi; Erica R Eichers; Mark E Pennesi; Perciliz L Tan; John H Wilson; Nicholas Katsanis; James R Lupski; Samuel M Wu
Journal:  Vision Res       Date:  2007-12       Impact factor: 1.886

6.  Erythrocyte and platelet fatty acids in retinitis pigmentosa.

Authors:  A M Stanzial; L Bonomi; C Cobbe; O Olivieri; D Girelli; M T Trevisan; A Bassi; S Ferrari; R Corrocher
Journal:  J Endocrinol Invest       Date:  1991-05       Impact factor: 4.256

7.  Membrane fatty acids, glutathione-peroxidase activity, and cation transport systems of erythrocytes and malondialdehyde production by platelets in Laurence Moon Barter Biedl syndrome.

Authors:  R Corrocher; L Guadagnin; M de Gironcoli; D Girelli; P Guarini; O Olivieri; S Caffi; A M Stanzial; S Ferrari; L Grigolini
Journal:  J Endocrinol Invest       Date:  1989 Jul-Aug       Impact factor: 4.256

  7 in total

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