Literature DB >> 6180492

Metabolic tapetoretinal degenerations.

J François.   

Abstract

There are a number of metabolic diseases which cause tapetoretinal degeneration, suggesting that pure pigmentary retinopathy may also be metabolic in nature. On the other hand tapetoretinal degenerations may have various modes of inheritance, so we may conclude that the metabolic disorder at the basis of these diseases is not unique and that tapetoretinal degenerations are heterogenic. In this article, some 450 published reports on tapetoretinal degenerations are reviewed. Based on these reports, the clinical and ocular manifestations, laboratory and histopathological findings, inheritance patterns, and treatments of various syndromes characterized by tapetoretinal degenerations are described. It is hoped that the gathering together of this information in one source will acid in the future understanding of metabolically based eye disease.

Entities:  

Mesh:

Substances:

Year:  1982        PMID: 6180492     DOI: 10.1016/0039-6257(82)90124-2

Source DB:  PubMed          Journal:  Surv Ophthalmol        ISSN: 0039-6257            Impact factor:   6.048


  8 in total

1.  OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.

Authors:  Satoshi Katagiri; Tamaki Gekka; Takaaki Hayashi; Hiroyuki Ida; Toya Ohashi; Yoshikatsu Eto; Hiroshi Tsuneoka
Journal:  Doc Ophthalmol       Date:  2014-01-16       Impact factor: 2.379

Review 2.  Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.

Authors:  Ekaterini Tsilou; Min Zhou; William Gahl; Pamela C Sieving; Chi-Chao Chan
Journal:  Surv Ophthalmol       Date:  2007 Jan-Feb       Impact factor: 6.048

3.  Retinal pathology in the Kearns-Sayre syndrome.

Authors:  N M McKechnie; M King; W R Lee
Journal:  Br J Ophthalmol       Date:  1985-01       Impact factor: 4.638

Review 4.  Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature.

Authors:  M M van Genderen; G F Kinds; F C Riemslag; R C Hennekam
Journal:  Br J Ophthalmol       Date:  2000-10       Impact factor: 4.638

5.  Neuronal ceroid lipofuscinosis. Ocular histopathologic and electron microscopic studies in the late infantile, juvenile, and adult forms.

Authors:  E I Traboulsi; W R Green; M W Luckenbach; Z C de la Cruz
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1987       Impact factor: 3.117

6.  Autosomal dominant vitreoretinochoroidopathy (ADVIRC).

Authors:  N P Blair; M F Goldberg; G A Fishman; T Salzano
Journal:  Br J Ophthalmol       Date:  1984-01       Impact factor: 4.638

Review 7.  Treatment of corneal cystine crystal accumulation in patients with cystinosis.

Authors:  Fatemeh Shams; Iain Livingstone; Dilys Oladiwura; Kanna Ramaesh
Journal:  Clin Ophthalmol       Date:  2014-10-10

8.  Ophthalmologic findings of Boucher-Neuhäuser syndrome.

Authors:  Sun Im Yu; Jung Lim Kim; Sul Gee Lee; Hyun Woong Kim; Sang Jin Kim
Journal:  Korean J Ophthalmol       Date:  2008-12
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.