scholarly journals Multifocal pattern dystrophy simulating fundus flavimaculatus

2020 ◽  
Author(s):  
Keyword(s):  
Pattern Dystrophy ◽  
Fundus Flavimaculatus

scholarly journals Fundus flavimaculatus-like in myotonic dystrophy: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Eric Kirkegaard-Biosca ◽  
Mònica Berges-Marti ◽  
Brahim Azarfane ◽  
Esther Cilveti ◽  
Laura Distefano ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Vision Loss ◽  
Posterior Pole ◽  
The Body ◽  
Inherited Disease ◽  
Case Presentation ◽  
Pattern Dystrophy ◽  
Progressive Muscle Weakness ◽  
History Of ◽  
Fundus Flavimaculatus

Abstract Background Myotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that affects different parts of the body, including the eye. Dysfunction of ocular muscles, ptosis and cataract are the most common ophthalmologic manifestations, but it can also present with pigmentary changes in the retina. This report presents and discusses an unusual case of a pigmented pattern dystrophy simulating a fundus flavimaculatus in a patient with myotonic dystrophy. Case presentation We present a case of a woman with a history of myotonic dystrophy and complaints of progressive vision loss who presented bilateral retinal pigmentary changes in posterior pole and midperiphery. The characteristics and distribution of pigmented deposits, as well as ancillary tests, showed a retinal phenotype compatible with a multifocal pattern dystrophy or a fundus flavimaculatus. Conclusions There are a few publications about retinal disorders in patients with myotonic dystrophy. When macular area is affected it tends to adopt a patterned-shape defined as butterfly dystrophy or reticular dystrophy. To our knowledge, this is the first report of a patient with myotonic dystrophy and multifocal pattern dystrophy or fundus flavimaculatus.

scholarly journals Multimodal imaging in multifocal pattern dystrophy simulating fundus flavimaculatus

2016 ◽  
Vol 64 (5) ◽  
pp. 395
Author(s):  
Saurabh Kumar ◽  
Rupak Roy ◽  
DhileeshP Chandrasekharan ◽  
Avirupa Ghose ◽  
Preeti Sharma
Keyword(s):  
Multimodal Imaging ◽  
Pattern Dystrophy ◽  
Fundus Flavimaculatus

scholarly journals Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus: Multimodal Imaging for Early Diagnosis

2021 ◽  
pp. 724-728
Author(s):  
Tryfon Rotsos ◽  
Alexandra Gkounta ◽  
Chrysanthos Symeonidis ◽  
Anastasios Lavaris ◽  
Emmanouil Mavrikakis
Keyword(s):  
Relevant Literature ◽  
Pattern Electroretinogram ◽  
Clinical Entity ◽  
Management Approach ◽  
Fundus Examination ◽  
Pattern Dystrophy ◽  
Effective Treatment Modality ◽  
Electrophysiological Findings ◽  
Fundus Flavimaculatus

Multifocal pattern dystrophy simulating fundus flavimaculatus (MPDSFF) is a clinical entity characterized by several clinicopathological, angiographic, tomographic, and electrophysiological findings. A 58-year-old caucasian female patient presented with bilateral floaters and metamorphopsia. Best-corrected visual acuity (VA) was 6/6 in both eyes and intraocular pressure was 14 and 15 mm Hg, respectively. Fundus examination, optical coherence tomography (OCT), autofluoresence (AF), fluorescein angiography (FA) and pattern Electroretinogram were employed for the diagnosis of this case. Clinical and imaging findings were consistent with MPDSFF. Noticeable progression was observed in OCT scans 6 months following the baseline visit, while no significant changes were observed over the following 12 months. Prognosis of VA in MPDSFF patients may remain relatively good even in the presence of considerable anatomic changes. Disease progression may be slow and significant reduction in VA may present only secondary to a choroidal neovascular membrane. Patient follow-up should include OCT scans, PERG, and AF in addition to VA and dilated fundus examination every 6–12 months. As relevant literature is limited and no effective treatment modality has been employed for this clinical entity, the identification of the cellular death pathway in pattern dystrophies may lead to an applicable management approach.

scholarly journals PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation

Genes ◽  
2020 ◽  
Vol 11 (7) ◽  
pp. 773
Author(s):  
Rosa M. Coco-Martin ◽  
Hortensia T. Sanchez-Tocino ◽  
Carmen Desco ◽  
Ricardo Usategui-Martín ◽  
Juan J. Tellería
Keyword(s):  
Gene Mutations ◽  
Large Family ◽  
Macular Dystrophy ◽  
Retinal Diseases ◽  
New Mutation ◽  
Pattern Dystrophy ◽  
Pathogenic Mutations ◽  
Abca4 Gene ◽  
Central Areolar Choroidal Dystrophy ◽  
Fundus Flavimaculatus

Over 175 pathogenic mutations in the Peripherin-2 (PRPH2) gene are linked to various retinal diseases. We report the phenotype and genotype of eight families (24 patients) with retinal diseases associated with seven distinct PRPH2 gene mutations. We identified a new mutation, c.824_828+3delinsCATTTGGGCTCCTCATTTGG, in a patient with adult-onset vitelliform macular dystrophy (AVMD). One family with the p.Arg46Ter mutation presented with the already described AVMD phenotype, but another family presented with the same mutation and two heterozygous pathogenic mutations (p.Leu2027Phe and p.Gly1977Ser) in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) gene that cause extensive chorioretinal atrophy (ECA), which could be a blended phenotype. The p.Lys154del PRPH2 gene mutation associated with the p.Arg2030Glu mutation in the ABCA4 gene was found in a patient with multifocal pattern dystrophy simulating fundus flavimaculatus (PDsFF), for whom we considered ABCA4 as a possible modifying gene. The mutation p.Gly167Ser was already known to cause pattern dystrophy, but we also found ECA, PDsFF, and autosomal-dominant retinitis pigmentosa (ADRP) as possible phenotypes. Finally, we identified the mutation p.Arg195Leu in a large family with common ancestry, which previously was described to cause central areolar choroidal dystrophy (CACD), but we also found ADRP and observed that it caused ECA more frequently than CACD in this family.

scholarly journals Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus

2007 ◽  
Vol 91 (11) ◽  
pp. 1504-1511 ◽  
Author(s):  
C. J F Boon ◽  
M. J van Schooneveld ◽  
A. I den Hollander ◽  
J. J C van Lith-Verhoeven ◽  
M. N Zonneveld-Vrieling ◽  
...  
Keyword(s):  
Pattern Dystrophy ◽  
Fundus Flavimaculatus

Fundus Flavimaculatus without Maculopathy

Ophthalmology ◽  
1986 ◽  
Vol 93 (1) ◽  
pp. 116-119 ◽  
Author(s):  
Peter J. McDonnell ◽  
Jane D. Kivlin ◽  
Irene H. Maumenee ◽  
W. Richard Green
Keyword(s):  
Fundus Flavimaculatus

scholarly journals Association of Pattern Dystrophy With an HTRA1 Single-Nucleotide Polymorphism

2012 ◽  
Vol 130 (8) ◽  
Author(s):  
Tareq Jaouni ◽  
Edward Averbukh ◽  
Tal Burstyn-Cohen ◽  
Michelle Grunin ◽  
Eyal Banin ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Pattern Dystrophy
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