Byron L. Lam
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View article: Preclinical Assessment of Mitochondrial-Targeted <i>ND4</i> Gene Therapy for Leber Hereditary Optic Neuropathy
Preclinical Assessment of Mitochondrial-Targeted <i>ND4</i> Gene Therapy for Leber Hereditary Optic Neuropathy Open
Intravitreal delivery of MTSAAV/hND4 in rodents resulted in favorable biodistribution, with vector DNA largely confined to the injected eye and minimal systemic exposure. No vector-related adverse effects were observed based on functional,…
View article: Indications and Outcomes of Select Vitreoretinal Surgery in Patients With Marfan Syndrome
Indications and Outcomes of Select Vitreoretinal Surgery in Patients With Marfan Syndrome Open
Purpose: To report clinical indications and outcomes of select vitreoretinal surgery in patients with Marfan syndrome. Methods: A retrospective consecutive case series of patients with Marfan syndrome undergoing surgery was performed. Data…
View article: Safety and efficacy of MCO-010 optogenetic therapy in patients with Stargardt disease in USA (STARLIGHT): an open-label multi-center Ph2 trial
Safety and efficacy of MCO-010 optogenetic therapy in patients with Stargardt disease in USA (STARLIGHT): an open-label multi-center Ph2 trial Open
Nanoscope Therapeutics Inc.
View article: Fundus Autofluorescence in Inherited Retinal Disease: A Review
Fundus Autofluorescence in Inherited Retinal Disease: A Review Open
Fundus autofluorescence (FAF) is a non-invasive retinal imaging technique that helps visualize naturally occurring fluorophores, such as lipofuscin, and provides valuable insight into retinal diseases—particularly inherited retinal disease…
View article: Characterizing Retinal Mitochondrial Function and Its Relations to Intraretinal Thicknesses in Healthy Adults
Characterizing Retinal Mitochondrial Function and Its Relations to Intraretinal Thicknesses in Healthy Adults Open
This study is the first to examine the relationship between retinal mitochondrial function and intraretinal layer thicknesses in healthy adults. Findings suggest that age mediates the observed associations.
View article: Longitudinal widefield OCT optic nerve thickness measurements in a case of incipient non-arteritic ischemic optic neuropathy
Longitudinal widefield OCT optic nerve thickness measurements in a case of incipient non-arteritic ischemic optic neuropathy Open
This use of 12 × 12 mm SS-OCTA scans and a semi-automated algorithm can significantly improve the detection and management of incipient NAION in clinical practice with the possibility that early detection would facilitate earlier intervent…
View article: Variants in CFAP410 cause a range of retinal and skeletal phenotypes
Variants in CFAP410 cause a range of retinal and skeletal phenotypes Open
Ciliopathies are associated with a range of phenotypes including retinal degeneration and skeletal abnormalities. We present a retrospective study of 49 patients with variants in Cilia and Flagella Associated Protein 410 (CFAP410) from mul…
View article: Associations Between Self-Reported Visual and Hearing Functioning and Cognitive Function Among Hispanics/Latino: Hispanic Community Health Study
Associations Between Self-Reported Visual and Hearing Functioning and Cognitive Function Among Hispanics/Latino: Hispanic Community Health Study Open
Background and Objectives: To investigate the associations between self-reported visual functioning (VF) and hearing functioning with cognition in the Hispanic/Latino population. Research Design and Methods: We utilized data from the Miami…
View article: Genetic ablation of the TET family in retinal progenitor cells impairs photoreceptor development and leads to blindness
Genetic ablation of the TET family in retinal progenitor cells impairs photoreceptor development and leads to blindness Open
The retina is responsible for converting light into electrical signals that, when transmitted to the brain, create the sensation of vision. The mammalian retina is epigenetically unique since the differentiation of retinal progenitor cells…
View article: Extreme Phenotypic Variability of <i>ACTG1</i>‐Related Disorders in Hearing Loss
Extreme Phenotypic Variability of <i>ACTG1</i>‐Related Disorders in Hearing Loss Open
Hearing loss is the most common sensory defect in humans, affecting normal communication. In most cases, hearing loss is a multifactorial disorder caused by both genetic and environmental factors, but single‐gene mutations can lead to synd…
View article: Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care
Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care Open
Introduction Usher syndrome (USH) is a rare, autosomal‐recessive genetic disorder and a leading cause of early onset deaf‐blindness. A clinical diagnosis is made by the presence of retinitis pigmentosa (RP) with sensorineural hearing loss …
View article: Severe visual loss from concurrent fulminant idiopathic intracranial hypertension and malignant arterial hypertension: Prompt suspicion matters
Severe visual loss from concurrent fulminant idiopathic intracranial hypertension and malignant arterial hypertension: Prompt suspicion matters Open
Our case series underscores the need to promptly include IIH in the differential diagnosis in patients with bilateral optic disc edema including patients with malignant hypertension, particularly in those experiencing progressive visual lo…
View article: Vision‐related quality of life after unilateral occipital stroke
Vision‐related quality of life after unilateral occipital stroke Open
Background/objectives Stroke damage to the primary visual cortex induces large, homonymous visual field defects that impair daily living. Here, we asked if vision‐related quality of life (VR‐QoL) is impacted by time since stroke. Subjects/…
View article: Genetic ablation of the TET family in retinal progenitor cells impairs photoreceptor development and leads to blindness
Genetic ablation of the TET family in retinal progenitor cells impairs photoreceptor development and leads to blindness Open
Rod and cone photoreceptors are critical for vision, and their loss leads to blindness. Photoreceptors are epigenetically unique, because the promoters of the genes required for the development and function of these neurons are hypermethyl…
View article: Training in Cortically Blinded Fields Appears to Confer Patient-Specific Benefit Against Retinal Thinning
Training in Cortically Blinded Fields Appears to Confer Patient-Specific Benefit Against Retinal Thinning Open
Relative shrinkage of the affected versus unaffected macular GCL-IPL can be reliably measured at an individual level and increases with time post-V1 stroke. Relative thinning progressed during intact-field training but appeared to be halte…
View article: Associations Between Self-Reported Visual and Hearing Functioning and Cognitive Function Among Hispanics/Latino: Hispanic Community Health Study
Associations Between Self-Reported Visual and Hearing Functioning and Cognitive Function Among Hispanics/Latino: Hispanic Community Health Study Open
Background and Objectives To investigate the associations between self-reported visual functioning (VF) and hearing functioning with cognition in the Hispanic/Latino population. Research Design and Methods We utilized data from the Miami O…
View article: Leber hereditary optic neuropathy gene therapy
Leber hereditary optic neuropathy gene therapy Open
Purpose of review To discuss relevant clinical outcomes, challenges, and future opportunities of gene therapy in Leber hereditary optic neuropathy (LHON). Recent findings Results of G11778A LHON Phase 3 randomized clinical trials with unil…
View article: Training in cortically-blind fields confers patient-specific benefit against retinal thinning after occipital stroke
Training in cortically-blind fields confers patient-specific benefit against retinal thinning after occipital stroke Open
Purpose Damage to the adult primary visual cortex (V1) causes vision loss in the contralateral hemifield, initiating a process of trans-synaptic retrograde degeneration (TRD). Here, we examined retinal correlates of TRD using a new metric …
View article: The Natural History of Vision-Related Quality of Life after Unilateral Occipital Stroke
The Natural History of Vision-Related Quality of Life after Unilateral Occipital Stroke Open
Background/Objectives Stroke damage to the primary visual cortex induces large, homonymous visual field defects that impair daily living. Here, we asked if vision-related quality of life (V-QoL) is impacted by time since stroke. Subjects/M…
View article: Leber Hereditary Optic Neuropathy Gene Therapy: Longitudinal Relationships Among Visual Function and Anatomical Measures
Leber Hereditary Optic Neuropathy Gene Therapy: Longitudinal Relationships Among Visual Function and Anatomical Measures Open
Baseline SS-PERG amplitude was much reduced in both eyes of all groups including asymptomatic eyes of group 3, and showed no appreciable changes irrespective of disease stage and treatment. Significant and progressive GCIPL and RNFL thinni…
View article: A SYSTEMATIC LITERATURE REVIEW OF DISEASE PROGRESSION REPORTED IN RPGR-ASSOCIATED X-LINKED RETINITIS PIGMENTOSA
A SYSTEMATIC LITERATURE REVIEW OF DISEASE PROGRESSION REPORTED IN RPGR-ASSOCIATED X-LINKED RETINITIS PIGMENTOSA Open
Purpose: Retinitis pigmentosa GTPase regulator–associated X-linked retinitis pigmentosa ( RPGR -associated XLRP) is a rare and severe form of retinitis pigmentosa, resulting in progressive visual impairment; however, disease progression da…
View article: Current Assistive Devices Usage and Recommendations for a Future Artificial Vision Prosthesis among Patients with Severe Visual Impairment Due to Inherited Retinal Diseases
Current Assistive Devices Usage and Recommendations for a Future Artificial Vision Prosthesis among Patients with Severe Visual Impairment Due to Inherited Retinal Diseases Open
Patients with inherited retinal diseases (IRDs) utilize various adaptive techniques and devices designed to assist them with activities of daily living (ADLs). The purpose of this study was to assess the assistive devices used by patients …
View article: Diabetes eye screening in urban settings serving minority populations: Detection of diabetic retinopathy and other ocular findings using telemedicine
Diabetes eye screening in urban settings serving minority populations: Detection of diabetic retinopathy and other ocular findings using telemedicine Open
IMPORTANCE The use of a nonmydriatic camera for retinal imaging combined with the remote evaluation of images at a telemedicine reading center has been advanced as a strategy for diabetic retinopathy (DR) screening, particularly among pati…