Literature DB >> 3785883

'Leopard spot' retinopathy in Warburg syndrome.

R A Barth, R A Pagon, A H Bunt-Milam.   

Abstract

A female infant with brain and muscle abnormalities characteristic of Warburg syndrome had an atypical retinal dysplasia which appeared clinically as a 'leopard spot' retinopathy. The retinal histology is described in detail and is remarkable for periodic thinning of the inner nuclear layers and for isolated rosettes in the periphery. We believe 'leopard spot' retinopathy is yet another ocular manifestation of the Warburg syndrome.

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Year:  1986        PMID： 3785883     DOI： 10.3109/13816818609076115

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN： 0167-6784


  5 in total

1.  A novel pattern of oculocerebral malformation.

Authors:  B J Clark; W R Lee; D Doyle; R Arngrimsson; J L Tolmie; J B Stephenson
Journal:  Br J Ophthalmol       Date:  1997-06       Impact factor: 4.638

2.  A unique pattern of photoreceptor degeneration in cyclin D1 mutant mice.

Authors:  C Ma; D Papermaster; C L Cepko
Journal:  Proc Natl Acad Sci U S A       Date:  1998-08-18       Impact factor: 11.205

3.  Ocular findings in Walker-Warburg syndrome.

Authors:  H Gerding; F Gullotta; K Kuchelmeister; H Busse
Journal:  Childs Nerv Syst       Date:  1993-11       Impact factor: 1.475

4.  Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder.

Authors:  C J Lyons; G Castano; A Q McCormick; D Applegarth
Journal:  Br J Ophthalmol       Date:  2004-02       Impact factor: 4.638

5.  Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report.

Authors:  Francesca Peluso; Viviana Palazzo; Giuseppe Indolfi; Francesco Mari; Roberta Pasqualetti; Elena Procopio; Claudia Nesti; Renzo Guerrini; Filippo Santorelli; Sabrina Giglio
Journal:  BMC Med Genomics       Date:  2021-01-21       Impact factor: 3.063
  5 in total

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