Best disease presenting as subretinal pigment epithelium hyperreflectivite lesion on spectral-domain optical coherence tomography: Multimodal imaging features

Purpose To report clinical and multimodal imaging features of Best disease in patients presenting with subretinal pigment epithelium hyperreflective lesions. Design Retrospective study. Methods Clinical examination findings and multimodal imaging features, including color fundus photography, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence, fluorescein and indocyanine green angiography (ICGA), and optical coherence tomography angiography (OCTA) images were evaluated retrospectively. Results We assessed 27 eyes of 16 patients with the diagnosis of Best disease. Only patients presenting with serous macular detachment and subretinal pigment epithelium hyperreflective lesion in one or both eyes were included in this study. In 17 of 27 eyes (63%), fibrosis was identified by multimodal imaging techniques. Although there was no sign of active neovascularization on fundus examination or SD-OCT, a vascular network could be identified in 7 eyes (26%) (in 1 eye with OCTA only and in 6 eyes with both OCTA and ICGA). Active neovascularization was seen in 3 eyes (11%). Treatment was recommended for eyes with active neovascularization, and follow-up was scheduled for eyes with quiescent neovascularization and fibrosis. Conclusion Eyes with Best disease with subretinal pigment epithelium hyperreflective lesion and serous macular detachment may show fibrosis, quiescent neovascularization, or active neovascularization. Multimodal imaging techniques are very important for differentiation of these lesions.

Immunotherapy in Metastatic Mucosal Melanoma with Disseminated Intravascular Coagulation: A Case of Success

Mucosal melanoma accounts for 1% of all melanomas. It is more aggressive than cutaneous melanoma, and local excision provides the best disease-free survival. The vast majority of patients eventually develop metastases, with a metastatic pattern independent of the primary tumor site. While studies show that BRAF and KIT inhibitors have a role in the management of these patients, the actual treatment focus is on immunotherapy. Herein is described the case of a 79-year-old woman with metastatic mucosal melanoma and bone marrow infiltration causing disseminated intravascular coagulation, who was treated with an immunotherapy combination (anti-CTLA-4 and anti-PD-1 antibodies), achieving complete disease remission. This is the third case of melanoma with disseminated intravascular coagulation at presentation and the second case treated with immunotherapy in the literature, but the only one achieving disease remission.

New Evidence on BEST1 Genetic Variant Identified in a Patient with Best Vitelliform Macular Dystrophy Phenotype

Best Disease (BD), also known as Best Vitelliform Macular Dystrophy (BVMD), represents an inherited autosomal dominant macular dystrophy with a juvenile age of onset [1]. It is a phenotypically heterogeneous, bilateral condition that affects the retina and Retinal Pigment Epithelium (RPE) caused by pathogenic variants in the BEST1 gene located on chromosome 11q12-13 [2,3]. Typical fundus findings in BD are egg yolk-like, round or oval, lesions seen in the macula, and affected eyes may demonstrate various clinical stages, ranging from the previtelliform stage to Choroidal Neovascularization (CNV) [4]. The macular appearance in all stages is deceptive, as most patients maintain relatively good visual acuity throughout the course of the disease. Patients commonly experience visual compromise in early adulthood, although the age of onset can range from childhood to late adulthood [3] and most patients with BD maintain good vision in at least one eye. The presence of subretinal fluid or CNV has been associated with a poorer visual prognosis [4]. In this case report, we describe a patient with clinical features suggestive of Best disease. We discuss the differential diagnosis and we present the multimodal imaging of the retina used for both the diagnosis and follow up. We also report a genetic study that demonstrates more evidence on a novel genetic variant in the BEST1 gene. The same genetic mutation has been recently reported as a novel variant in a single patient with BVMD [5].

Intra-Vitreous Injections of Bevacizumab in Choroidal Neovascularization Complicating Best Vitelliform Macular Dystrophy: Case Report of a Child

A 15-year-old child followed for Best vitelliform macular dystrophy presented to the clinic with an abrupt visual impairment of his left eye. Fundus examination showed bilateral vitelliform lesions, with serous retinal detachment and adjacent retinal hemorrhage in the left eye. Fluorescein angiography and optical coherence tomography confirmed the diagnosis of type-2 choroidal neovascularization complicating the Best disease. The juxtafoveal location of the choroidal neovascularization prompted us to realize monthly intra-vitreous injections of bevacizumab. After the fourth injection, we observed visual and anatomical improvement that remained stable after a 12-month follow-up. It’s important to look for complications in front of a sudden decrease in visual acuity in Best disease.

Best Disease Presenting as Subretinal Pigment Epithelium Hyperreflective Lesion on Spectral-Domain Optical Coherence Tomography: Multimodal Imaging Features Multimodal imaging in Best disease

PurposeTo report clinical and multimodal imaging features of Best disease in patients presenting with subretinal pigment epithelium hyperreflective lesion.DesignRetrospective study.MethodsClinical examination findings and multimodal imaging features, including color fundus photography, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence, fluorescein and indocyanine green angiography (ICGA), and optical coherence tomography angiography (OCTA) images were evaluated retrospectively. ResultsWe assessed 27 eyes of 16 patients with the diagnosis of Best disease. Only patients presenting with serous macular detachment and subretinal pigment epithelium hyperreflective lesion in one or both eyes were included in this study. In 17 of 27 eyes (63%), fibrosis was identified by multimodal imaging techniques. Although there was no sign of active neovascularization on fundus examination or SD-OCT, a vascular network could be identified in 7 eyes (26%) (in 1 eye with OCTA only and in 6 with both OCTA and ICGA). Active neovascularization was seen in 3 eyes (11%). Treatment was recommended for eyes with active neovascularization, and follow-up was scheduled for eyes with quiescent neovascularization and fibrosis.ConclusionEyes with Best disease with subretinal pigment epithelium hyperreflective lesion and serous macular detachment may show fibrosis, quiescent neovascularization, or active neovascularization. Multimodal imaging techniques are very important for differentiation of these lesions.

Best Disease in 13 Years Old Female

Best disease is a hereditary-degenerative macular dystrophy. Described for the first time by Friedrich Best, It is due to the accumulation of lipofuscin in the macular pigment epithelium. We report a case of a 13 years old female with no medical history. Slit lamp examination revealed unremarkable findings in the anterior segment of both eyes. Posterior segment exam, at the macula, showed a well circumscribed yellow material similar to the egg yolk structure, in both eyes (Figure 1). Figure 1: Retinography with bilateral egg yolk-like image on macula. The Optical Coherence Tomography (OCT) macula revealed Pigmentary Epithelial Detachment (PED) and LE atrophic scar. The systemic examination had no remarkable findings. The patient was diagnosed Best Vitelliform macula.

Molecular Cytogenetic Characterization and Fusarium Head Blight of Five Wheat Thinopyrum Intermedium Partial Amphiploids

Background: Partial amphiploids created by crossing octoploid tritelytrigia and Thinopyrum intermedium are important intermediates in wheat breeding because of their resistance to major wheat diseases. We examined the chromosome compositions of five wheat Th. intermedium partial amphiploids using GISH and multicolor FISH. Results: The result revealed that five lines had 10 14 J genome chromosomes from Th. intermedium and 42 common wheat chromosomes, using the J genomic DNA from Th. bessarabicum and the oligo probes pAs1 1 , pAs1 3 , AFA 4 , GAA ) 10, and pSc119.2 1 . Five lines resembled the parent Ganmai 8 but had better protein contents. P rotein contents of t wo lines HS2 2 and HS2 5 were up to more than 20%. Evaluation of Fusarium head blight (FHB) resistance revealed that the percent of symptomatic spikelets (PSS) of these lines were below 30%. Lines HS2 2, HS2 4, HS2 5, and HS2 16 were less than 20%. Line HS2 5 with 14 J genome chromosomes from Th. intermedium showed the best disease resistance, with PSS values of 10.8% and 16.6% in 2016 and 2017, respectively. Conclusions: New wheat Th. intermedium amphiploids with the J genome chromosomes were identified and can be considered as a valuable source of FHB resistance in wheat breeding.