Ramiro S. Maldonado
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View article: Progression of Dark-Adapted Visual Fields Over 3 Years in the Rate of Progression in <i>USH2A</i>-Related Retinal Degeneration (RUSH2A) Study
Progression of Dark-Adapted Visual Fields Over 3 Years in the Rate of Progression in <i>USH2A</i>-Related Retinal Degeneration (RUSH2A) Study Open
Average yearly change in mean DAVF measures was comparable with the annual change on full-field stimulus testing and faster than in cone-mediated measures. Two-color DAVFs identified rod-mediated function in the majority of patients with U…
View article: Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy
Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy Open
Autosomal recessive IMPG2-retinal dystrophy is typically an early onset retinal dystrophy associated with poor visual acuity. Younger patients are more likely to benefit from intervention in future trials due to early macular involvement i…
View article: Deep compressed multichannel adaptive optics scanning light ophthalmoscope
Deep compressed multichannel adaptive optics scanning light ophthalmoscope Open
Adaptive optics scanning light ophthalmoscopy (AOSLO) reveals individual retinal cells and their function, microvasculature, and micropathologies in vivo. As compared to the single-channel offset pinhole and two-channel split-detector nonc…
View article: Multimodal Imaging of Punctate Outer Retinal Toxoplasmosis
Multimodal Imaging of Punctate Outer Retinal Toxoplasmosis Open
We present multimodal imaging of a unique case of ocular toxoplasmosis in a young girl, marked by recurring macular lesions despite treatment and prophylaxis, progressing unusually to punctate outer retinal toxoplasmosis. An eleven-year-ol…
View article: Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll
Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll Open
This report provides the largest assessment of genetic causality in the IRD patient population across multiple continents to date.
View article: Impact of Dietary Antioxidant Supplements on Atrophic Lesion Progression in Stargardt Disease: A Retrospective Observational Study
Impact of Dietary Antioxidant Supplements on Atrophic Lesion Progression in Stargardt Disease: A Retrospective Observational Study Open
Purpose: To investigate whether supplementation with dietary antioxidants has an effect on the yearly progression rate of atrophic lesions in autosomal recessive Stargardt disease (STGD1), as derived from fundus autofluorescence (FAF). Met…
View article: Imaging Infants and Children with Investigational Handheld Optical Coherence Tomography with Widefield Lens: A Pilot Study
Imaging Infants and Children with Investigational Handheld Optical Coherence Tomography with Widefield Lens: A Pilot Study Open
Handheld optical coherence tomography (OCT) systems have shown promises to provide detailed evaluation of the pediatric retina. It is less stressful for preterm infants compared to binocular indirect ophthalmoscopy and shows promises for s…
View article: Optical Coherence Tomography Angiography: Investigating Vessel Density Changes Induced by Caffeine in Healthy Subjects
Optical Coherence Tomography Angiography: Investigating Vessel Density Changes Induced by Caffeine in Healthy Subjects Open
Introduction: Caffeine, the most widely consumed psychoactive drug globally, has been associated with vascular changes in various organs, including the retina. Researchers have reported vascular constriction in the retina in response to ca…
View article: Longitudinal Choroidal Development in Preterm Infants
Longitudinal Choroidal Development in Preterm Infants Open
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
View article: ANATOMICAL AND FUNCTIONAL OUTCOMES OF BEVACIZUMAB TREATMENT IN PEDIATRIC AUTOSOMAL RECESSIVE BESTROPHINOPATHY
ANATOMICAL AND FUNCTIONAL OUTCOMES OF BEVACIZUMAB TREATMENT IN PEDIATRIC AUTOSOMAL RECESSIVE BESTROPHINOPATHY Open
Purpose: The purpose of this study was to report functional and anatomical outcomes of anti-VEGF treatment in eyes with autosomal recessive bestrophinopathy (ARB) presenting in the first decade of life. Methods: The study included case ser…
View article: Short-term outcomes in patients with center-involving diabetic macular edema after a single dose of intravitreal bevacizumab
Short-term outcomes in patients with center-involving diabetic macular edema after a single dose of intravitreal bevacizumab Open
Background A significant portion of diabetic macular edema (DME) is refractory to anti-vascular endothelial growth factor (anti-VEGF) agents. This study investigates morphological and functional outcomes to a single intravitreal bevacizuma…
View article: Retinal Thinning in People With Well-Controlled HIV Infection
Retinal Thinning in People With Well-Controlled HIV Infection Open
Background: Retinal measurements correlate with disease progression in patients with multiple sclerosis; however, whether they associate with neurologic disease in people with controlled HIV is unknown. Using spectral domain optical cohere…
View article: Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome Open
Atypical Usher syndrome (USH) is poorly defined with a broad clinical spectrum. Here, we characterize the clinical phenotype of disease caused by variants in CEP78, CEP250, ARSG, and ABHD12.Chart review evaluating demographic, clinical, im…
View article: Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy Open
This study suggests that arVMD is part of a continuum of autosomal recessive and dominant BEST1-related retinopathies. Detailed clinical and molecular assessments of this cohort and the literature are corroborated by unsupervised analysis,…
View article: Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome
Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome Open
Background: Atypical Usher syndrome has recently been associated with arylsulfatase G (ARSG) variants. In these cases, characteristic findings include progressive sensorineural hearing loss (SNHL) without vestibular involvement and ring-sh…
View article: New Insights Into Pentosan Polysulfate Maculopathy
New Insights Into Pentosan Polysulfate Maculopathy Open
BACKGROUND AND OBJECTIVE: To provide new insights into toxic maculopathy secondary to pentosan polysulfate (PPS) utilizing multimodal testing. PATIENTS AND METHODS: Retrospective case-series of four patients from two academic centers evalu…
View article: Choroid Development and Feasibility of Choroidal Imaging in the Preterm and Term Infants Utilizing SD-OCT
Choroid Development and Feasibility of Choroidal Imaging in the Preterm and Term Infants Utilizing SD-OCT Open
To determine whether choroidal imaging is feasible in preterm and term infants using an 840-nm portable spectral domain optical coherence tomography (SD-OCT) system without the use of enhanced-depth imaging techniques and to assess choroid…
View article: GLUT1 deficiency
GLUT1 deficiency Open
Most patients with glucose transporter type 1 (GLUT1) deficiency syndrome (G1D) experience anticonvulsant-refractory epilepsy and abnormal cognitive and motor development.1 Ninety percent of patients with G1D harbor a causative loss-of-fun…
View article: Insulin, Hyperglycemia, and Severe Retinopathy of Prematurity in Extremely Low-Birth-Weight Infants
Insulin, Hyperglycemia, and Severe Retinopathy of Prematurity in Extremely Low-Birth-Weight Infants Open
To determine the association between hyperglycemia, insulin therapy, and severe retinopathy of prematurity (ROP) in extremely-low-birth-weight (ELBW) infants.
View article: MULTIMODAL EVIDENCE OF TYPE 3 NEOVASCULARIZATION IN ENHANCED S-CONE SYNDROME
MULTIMODAL EVIDENCE OF TYPE 3 NEOVASCULARIZATION IN ENHANCED S-CONE SYNDROME Open
Purpose: To investigate, using multimodal imaging, the anatomy of neovascularization in eyes with enhanced S-cone syndrome. Methods: Three eyes with neovascularization, from two patients with enhanced S-cone syndrome, were analyzed using f…