Literature DB >> 2313990

[Spot-like to reticular pigment displacement in a patient with pseudoxanthoma elasticum (Grönblad-Strandberg syndrome)].

M Zürcher1, I Schipper.   

Abstract

The authors report a rare observation of leopard spot-like and reticular pigmentary patterns in a patient with pseudoxanthoma elasticum (PXE). Characteristic fundus changes associated with PXE have been described as angioid streaks, subretinal neovascularization membranes, peau d'orange, focal retinal pigment epithelium atrophy (salmon spots), drusen, and optic nerve head drusen. The new manifestation of PXE in the fundus of the patient described here is a random scattering of small, dark brown pigment dots throughout the macula and around the disk. These clumps may flow into one another or join together like a string of pearls. These changes are rare and should be distinguished from the others mentioned above. To the authors' knowledge no more than ten cases have been reported in the literature so far.

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Year:  1990        PMID: 2313990     DOI: 10.1055/s-2008-1046124

Source DB:  PubMed          Journal:  Klin Monbl Augenheilkd        ISSN: 0023-2165            Impact factor:   0.700


  1 in total

1.  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

  1 in total

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