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

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.

Fundus flavimaculatus-like in myotonic dystrophy: a case report

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.

Stargardt and Fundus Flavimaculatus; Current and Developing Treatments

Stargardt macular dystrophy is a hereditary retinal degeneration that lacks effective treatment options. The pathophysiology of the disease is still not fully understood. While there are currently no available treatments for Stargardt disease, there are many categories of therapeutics under investigation to fulfill this unmet need for treatment. These include investigational visual cycle modulators, complement inhibitors, ABCA4 gene therapy, and subretinal transplantation of stem cell-derived retina pigment epithelial cells. Further trials are warranted to assess efficacy and safety in humans. In this review, the treatments investigated for the Stargardt disease are explained.

Multimodal imaging of hereditary retinal dystrophies (a series of clinical cases)

Multimodal visualization data of inherited retinal degeneration (IRD) on a Mirante platform (Nidek, Japan), used in a number of clinical cases, is compared with the data obtained by electrophysiological diagnostic methods. 4 patients with varying IRD were examined: adult-onset foveomacular vitelliform dystrophy, Stargardt disease, including those with fundus flavimaculatus, and retinitis pigmentosa. Multimodal imaging includes: colour fundus imaging, fundus autofluorescence, retro mode, and optical coherence tomography. Electroretinography was performed using an MBN electroretinograph (Russia), and electrooculography was performed using a RETIscan Science system (Roland Consult, Germany). Using non-invasive retinal imaging methods, specific patterns of inherited dystrophies were shown, which correlated well with the data of electrophysiological research methods. The combination of multimodal imaging on the Mirante platform (Nidek, Japan) in combination with electrophysiological diagnostic methods can be successfully used in complex diagnostics, monitoring of the progression, and evaluation of the results of IRD treatment.

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

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.