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The application and progression of CRISPR/Cas9 technology in ophthalmological diseases
The clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated nuclease (Cas) system is an adaptive immune defence system...
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Choroidal vascularity index and choroidal thickness: potential biomarkers in retinitis pigmentosa
Retinitis pigmentosa (RP) is the commonest inherited retinal dystrophy. It is characterized by progressive photoreceptor degeneration and cell death...
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Best vitelliform macular dystrophy in a large Brazilian family
BackgroundTo describe the clinical and multimodal imaging findings of a Brazilian family with Best vitelliform macular dystrophy.
Methods ...
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Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa
BackgroundUsher syndrome (USH) is an autosomal recessive disorder primarily responsible for deaf-blindness. Patients with subtype Usher syndrome type...
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Presumed veterinary niclosamide-induced retinal toxicity in a human: a case report
BackgroundTo report the first case of bull’s eye maculopathy associated with veterinary niclosamide.
Case presentationA 27-year-old Iranian female...
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Algorithm of the major and minor diagnostic criteria for active myopic choroidal neovascularization
PurposeTo propose an algorithm of the major and minor diagnostic criteria for macular myopic choroidal neovascularization (mCNV).
Methods ...
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Reviewing the Role of Ultra-Widefield Imaging in Inherited Retinal Dystrophies
Inherited retinal dystrophies (IRD) are a heterogeneous group of rare chronic disorders caused by genetically determined degeneration of...
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Analysis of retinal structure and function in cone dystrophy with supernormal rod response
PurposeTo report the clinical and electrophysiological features of cone dystrophy with supernormal rod response (CDSRR).
MethodsRetrospective cohort...
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Emerging treatments for corneal endothelium decompensation — a systematic review
PurposeEndothelial keratoplasty (EK) is the conventional treatment to improve visual acuity of corneal endothelium decompensation (CED) patients,...
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Combination of Trabeculectomy and Primary Pars Plana Vitrectomy in the Successful Treatment of Angle-Closure Glaucoma with BEST1 Mutations: Self-Controlled Case Series
IntroductionThis study aimed to illustrate the efficacy of the combination of lens extraction, trabeculectomy, and anterior vitrectomy in patients...
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Choroidal osteoma and pattern dystrophy of retinal pigment epithelium
PurposeTo describe co-occurrence of choroidal osteoma in a patient with pattern dystrophy of retinal pigment epithelium.
MethodsClinical case report
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An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment
BackgroundIndividuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular...
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Fuchs endothelial corneal dystrophy and corneal endothelial diseases: East meets West
AbstractFuchs endothelial corneal dystrophy (FECD) is amongst one of the most common indications for endothelial keratoplasty worldwide. Despite...
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Bergmeister’s papilla in a young patient with type 1 sialidosis: case report
BackgroundSialidosis is a rare genetic lysosomal storage disorder caused by a deficit of neuraminidase enzyme activity. Patients with sialidosis...
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Ocular manifestations of liver disease: an important diagnostic aid
PurposeThis review examined existing literature to determine various ocular manifestations of liver pathologies, with a focus on metabolic...
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Frequency of cystoid macular edema and vitreomacular interface disorders in genetically solved syndromic and non-syndromic retinitis pigmentosa
PurposeRetinitis pigmentosa (RP) corresponds to a group of inherited retinal disorders where progressive rod-cone degeneration is observed. Cystoid...
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Endoplasmic reticulum stress: molecular mechanism and therapeutic targets
The endoplasmic reticulum (ER) functions as a quality-control organelle for protein homeostasis, or “proteostasis”. The protein quality control...
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Evaluating the Quantity and Quality of Health Economic Literature in Blinding Childhood Disorders: A Systematic Literature Review
BackgroundEvidence on the socioeconomic burden associated with childhood visual impairment, severe visual impairment and blindness (VI/SVI/BL) is...
