Literature DB >> 131535

[Stargardt's disease and fundus flavimaculatus].

P François, P Turut, B Puech, J C Hache.   

Abstract

From their sixty two personnal observations and a study of literature cases, the authors demonstrate that the ophthalmoscopic fluoroscopic and functionnal aspects of macular lesions are strictly identical in Stargardt disease and in Fundus Flavimaculatus. Their transmission is also identical, generally autosomal and recessive, more rarely dominant. Flavimaculate lesions situated in perimacular or inperipheric area may coexist in the same family, and certainly correspond to variable forms of expressivity of a unique gene. The authors discuss the nosologic problems brought by these two affections and other juvenile macular degenerations. Their conclusions are as follows: The same disease may present three different forms: -- Pure Stargardt disease; -- Stargardt disease with perimacular flavimaculate crown; -- Stargardt disease with peripheric Fundus Flavimaculatus.

Entities:  

Mesh:

Year:  1975        PMID: 131535

Source DB:  PubMed          Journal:  Arch Ophtalmol Rev Gen Ophtalmol        ISSN: 0003-973X


  3 in total

Review 1.  Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Authors:  Frans P M Cremers; Winston Lee; Rob W J Collin; Rando Allikmets
Journal:  Prog Retin Eye Res       Date:  2020-04-09       Impact factor: 21.198

2.  A clinical review of Stargardt's disease and/or fundus flavimaculatus with follow-up.

Authors:  O Gelisken; J J De Laey
Journal:  Int Ophthalmol       Date:  1985-11       Impact factor: 2.031

3.  A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p.

Authors:  K L Anderson; L Baird; R A Lewis; A C Chinault; B Otterud; M Leppert; J R Lupski
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

  3 in total

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