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Serous maculopathy with absence of retinal pigment epithelium (SMARPE) associated with large drusen
PurposeTo describe the association of serous maculopathy with absence of retinal pigment epithelium (SMARPE) and large drusen in patients with...
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Gene Therapy Activates Retinal Pigment Epithelium Cell Proliferation for Age-related Macular Degeneration in a Mouse Model
ObjectiveAge-related macular degeneration (AMD) is a degenerative retinal disease. The degeneration or death of retinal pigment epithelium (RPE)...
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Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report
BackgroundBietti crystalline dystrophy is primarily a retinal dystrophy caused by a CYP4V2 mutation and typically presents with crystalline retinal...
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Ocular findings in a Spanish cohort of myotonic dystrophy type 1
PurposeMyotonic dystrophy type 1 is the most common muscular dystrophy in adulthood, caused by a triplet repeat in chromosome 19q13.3. The present...
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The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy
BackgroundThis study provides a detailed description of a Chinese family with North Carolina macular dystrophy (NCMD) and explores its possible...
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Fuchs endothelial corneal dystrophy: an updated review
PurposeThe present review will summarize FECD-associated genes and pathophysiology, diagnosis, current therapeutic approaches, and future treatment...
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Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients
PurposeThis study aims to answer a key question: is MYO7A -inherited retinal dystrophy ( MYO7A -IRD) a photoreceptor-first or retinal pigment...
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Longitudinal structure-function analysis of molecularly-confirmed CYP4V2 Bietti Crystalline Dystrophy
ObjectivesBietti Crystalline Dystrophy (BCD) is an autosomal recessive progressive retinal disease caused by mutations in CYP4V2 . We have...
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Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review
IntroductionInherited retinal dystrophies (IRDs) represent a genetically diverse group of progressive, visually debilitating diseases. Adult and...
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Blue-light fundus autofluorescence imaging of pigment epithelial detachments
BackgroundPigment epithelial detachments (PEDs) occur in association with various chorioretinal diseases. With respect to the broad clinical spectrum...
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Ex vivo cultivated retinal pigment epithelial cell transplantation for the treatment of rabbit corneal endothelial dysfunction
ObjectiveStem cell therapy is a promising strategy for the treatment of corneal endothelial dysfunction, and the need to find functional alternative...
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Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report
BackgroundTo report the first Italian case of hypotrichosis with juvenile macular dystrophy complicated by macular neovascularization diagnosed...
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Thickness of retinal pigment epithelium–Bruch’s membrane complex in adult Chinese using optical coherence tomography
PurposeTo study thickness of RPE–BM complex in adult Chinese subjects and its correlation with systemic and ocular biometric parameters.
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Corneal deposits and nerve alterations in Bietti Corneoretinal Crystalline Dystrophy imaged using in vivo confocal microscopy
PurposeTo evaluate the imaging features of corneal deposits and nerve alterations in Chinese patients with Bietti Corneoretinal Crystalline Dystrophy...
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A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function
PurposeBiallelic variants in POC1B are rare causes of autosomal recessive cone dystrophy associated with generalized cone system dysfunction. In...
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Optical Coherence Tomography-Based Choroidal Structural Analysis and Vascularity Index in Best Vitelliform Macular Dystrophy
IntroductionThis study investigated choroidal structural changes on optical coherence tomography (OCT) using choroidal vascularity index (CVI) and...
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Imaging of a retinal pigment epithelium aperture using polarization-sensitive optical coherence tomography
PurposeTo evaluate cases with a retinal pigment epithelium (RPE) aperture using polarization-sensitive optical coherence tomography (PS-OCT).
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Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy
BackgroundMyotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disorder that affects multiple organs, including the muscle and eye,...
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Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial
Bietti crystalline corneoretinal dystrophy is an inherited retinal disease caused by mutations in CYP4V2 , which results in blindness in the...
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Disease-causing mutations associated with bestrophinopathies promote apoptosis in retinal pigment epithelium cells
PurposeBest vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB) are two kinds of bestrophinopathies which are caused...
