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find Author "Liu Xing" 3 results
  • Multiple evanescent white dot syndrome and multiple evanescent white dot syndrome-like change

    Multiple evanescent white dot syndrome (MEWDS) is an acute retinal disease characterized by multifocal white spots in the fundus often seen in the unilateral eye. The lesions mainly involve the retinal pigment epithelium and the outer retinal structure. Typical ocular manifestations of MEWDS include grayish-white outer retinal spots with a clear borderline identified on the fundus, findings of hyper-autofluorescence in the early stage consistent with the spots identified on the fundus, and the optical coherence tomography manifestation of multifocal disruption of the ellipsoid zone. With the rapid development of multimodal imaging technology, some scholars found that these manifestations are not exclusive to MEWDS as some types of chorioretinopathy can also show MEWDS-like changes. The etiology of these diseases may be inflammation, infection, immunity, or tumor-related, misdiagnosed by masquerading as MEWDS. Here we summarized the clinical manifestations and imaging features of MEWDS and reviewed the fundus lesions changes that can be misdiagnosed as MEWDS.

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  • Research progress on microcystic macular edema in glaucoma: current status

    Microcystic macular edema (MME) represents a pathological change that can be observed in the inner layer of the retina in patients diagnosed with glaucoma. This phenomenon is particularly prevalent in individuals with moderate to advanced glaucoma. The majority of research in this field has focused on primary open-angle glaucoma. The occurrence of MME in glaucoma has been demonstrated to be associated with younger age, advanced stage and disease progression. MME occurs in the parafoveal region, most frequently located in the inferior perimacular region, which corresponded with the most vulnerable area of ganglion cells in glaucoma. The presence of MME may affect the automatic layering of optical coherence tomography images, suggesting that clinicians should be mindful of the occurrence of MME to avoid misdiagnosis of the disease. It is hypothesised that the occurrence of MME in glaucoma may be related to macular vitreous traction, mechanical stress of the stent, and Müller cell dysfunction. A comprehensive investigation of the precise pathophysiological mechanism of MME in glaucoma will facilitate the development of a novel perspective and a scientific foundation for the diagnosis, disease monitoring and evaluation of treatment efficacy in glaucoma.

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  • Analysis of BEST1 gene mutations and clinical features in multifocal vitelliform retinopathy patients

    Objective To analyze the BEST1 gene mutations and clinical features in patients with multifocal vitelliform retinopathy (MVR). Methods This is a retrospective case series study. Five MVR families with MVR, including 9 patients and 10 healthy family members were recruited. Clinical evaluations were performed in all MVR patients and their family members, including best-corrected visual acuity (BCVA), intraocular pressure (IOP), refraction, slit-lamp examination, 90 D preset lens examination, gonioscopy, color fundus photography, optical coherence tomography (OCT), fundus autofluorescence (AF), ultrasound biomicroscopy (UBM) and axial length measurement. Electro-oculogram (EOG) was performed in 12 eyes and visual field were performed in 13 eyes. Peripheral blood samples were collected in all subjects to extract genomic DNA. Coding exons and flanking intronic regions of BEST1 were amplified by polymerase chain reaction and analyzed by Sanger sequencing. Results Among the 5 MVR families, 3 probands from three families had family history, including 1 family had autosomal dominant inheritance pattern. Two patients from 2 families were sporadic cases. Screening of BEST1 gene identified four mutations, including three missense mutations (c.140G>T, p.R47L; c.232A>T, p.I78F; c.698C>T, p.P233L) and 1 deletion mutation (c.910_912del, p.D304del). Two mutations (p.R47L and p.I78F) were novel. The BCVA of affected eyes ranged from hand motion to 1.0. The mean IOP was (30.39±11.86) mmHg (1 mmHg=0.133 kPa). The mean refractive diopter was (-0.33±1.68) D. Twelve eyes had angle-closure glaucoma (ACG) and 4 eyes had angle closure (AC). EOG Arden ratio was below 1.55 in all patients. The mean anterior chamber depth was (2.17±0.29) mm. Visual field showed defects varied from paracentral scotoma to diffuse defects. The mean axial length was (21.87±0.63) mm. All MVR patients had multifocal vitelliform lesions in the posterior poles of retina. ACG eyes demonstrated pale optic disc with increased cup-to-disc ratio. OCT showed retinal edema, extensive serous retinal detachment and subretinal hyper-reflective deposits which had high autofluorescence in AF. The genetic testing and clinical examination were normal in 10 family members. Conclusions MVR patients harbored heterozygous mutation in the BEST1 gene. Two novel mutations (p.R47L and p.I78F) were identified. These patients had clinical features of multifocal vitelliform retinopathy and abnormal EOG. Most patients suffered from AC/ACG.

    Release date:2018-03-16 02:36 Export PDF Favorites Scan
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