Jin Kyun Oh- MD
- Resident at Columbia University
Jin Kyun Oh
- MD
- Resident at Columbia University
About
42
Publications
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248
Citations
Current institution
Publications
Publications (42)
Purpose
To document retinal toxicity from nab-paclitaxel and gemcitabine with SBP-101, diethyl dihydroxyhomospermine, a polyamine inhibitor for the treatment of metastatic pancreatic adenocarcinoma.
Methods
Observational case report.
Results
Two patients with metastatic pancreatic ductal adenocarcinoma on nab-paclitaxel and gemcitabine with SBP-1...
This case report highlights a temporal relationship between the use of a glucagon-like peptide-1 receptor (GLP-1) agonist and the occurrence of central retinal artery occlusion.
Background:
Oculodentodigital dysplasia (ODDD) is a rare syndrome that causes a constellation of facial, ophthalmic, dental, and limb abnormalities. Variants in the gap junction alpha-1 (GJA1) gene have been described in patients with ODDD. Hereby we present the ocular manifestations in a patient with recessive ODDD due to a novel homozygous frame...
Purpose
To describe an accessible method of structure-function correlation using optical coherence tomography (OCT) and virtual reality perimetry (VRP) for patients with retinal disease and glaucoma and to compare results with those of conventional Humphrey visual fields (HVF).
Methods
Patients with a diagnosis of glaucoma involving the central vi...
This case report discusses use of bedside manual repositioning of an anteriorly dislocated crystalline lens in a patient with Marfan syndrome.
Mutations in CEP78 lead to abnormal production of cilia and have previously been identified to cause cone-rod dystrophy (CRD) with progressive sensorineural hearing loss. The authors describe a case of cone dystrophy (CD) with sensorineural hearing loss in a variant that had previously been reported to be of unknown significance and associated with...
Purpose
To present the multimodal imaging and functional exam findings in a case of combined Stargardt disease and idiopathic intracranial hypertension.
Methods
The patient was evaluated with multimodal imaging including color fundus photography, short wavelength autofluorescence, spectral domain optical coherence tomography as well as functional...
Purpose
To present the longitudinal progression of a myopic macular hole with eventual closure and excellent visual recovery over a decade after initial full-thickness hole formation.
Methods
The patient was monitored using time-domain and spectral-domain optical coherence tomography images over 16 years.
Results
A 68-year-old man with high myopi...
Mutations in collagen-encoding genes have been linked to numerous systemic diseases. Specifically, pathologic alterations in COL4A2 have been linked to Gould syndrome, a hereditary angiopathy affecting the brain, kidneys, and eyes. However, the ocular phenotype associated with COL4A2-associated disease has yet to be fully characterized. In this rep...
Purpose:
To describe the phenotype of CLN-associated retinal dystrophy in a subset of patients at the Columbia University Medical Center, United States, and the Hospital das Clínicas de Pernambuco, Brazil, in comparison to the published literature.
Methods:
Eleven patients with confirmed biallelic variants in the CLN genes were evaluated via dil...
The development of fundus photography and imaging has improved our ability to diagnose and monitor inherited retinal degenerations. Nowadays, color fundus photography has become a staple in evaluating patients with retinitis pigmentosa (RP). Other important multimodal forms of fundus photography used today include red-free fundus photography, short...
Optical coherence tomography (OCT) is a noninvasive imaging technology that has gained widespread use in the evaluation of multiple retinal pathologies, including retinitis pigmentosa (RP). OCT allows for visualization of distinct retinal layers and the choroid and facilitates study of morphological features associated with RP. OCT can be used to d...
Background
Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness. Recessive loss-of-function mutations in Tubulin Tyrosine Ligase Like 5 ( TTLL5) represent a recently described cause of inherited cone–rod and cone dystrophy. T...
We describe affected members of a two-generation family segregating a Stargardt disease-like phenotype caused by a two base pair deletion-insertion, c.1014_1015delGAinsCT;p(Trp338_Asn339delinsCysTyr), in BEST1. The variant was identified by whole exome sequencing and its pathogenicity was verified through chloride channel recording using wild-type...
Background:
Spectral-domain optical coherence tomography (SD-OCT) and full-field electroretinography (ERG) allow retinal assessment with vitamin A deficiency (VAD). Using SD-OCT, this study aimed to characterize and follow a novel retinal abnormality in patients with VAD and intramuscular supplementation.
Methods:
Patients with VAD were retrospe...
Purpose
To report three cases of retinoschisis in patients with intermediate to advanced choroideremia.
Observations
Three patients were referred for evaluation of retinal detachment in the context of an inherited retinal degenerative disease. In all three cases, patients carried variants in the CHM gene suspected to be pathogenic and exhibited th...
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, imaging, and genetic findings of 19 patients from 18 families with a clinical diagnosis of retinal disease and c...
Retinal disorders such as retinitis pigmentosa, age-related retinal degeneration, oxygen-induced retinopathy, and ischemia-reperfusion injury cause debilitating and irreversible vision loss. While the exact mechanisms underlying these conditions remain unclear, there has been a growing body of evidence demonstrating the pathological contributions o...
Purpose:
The purpose of this study was to characterize the phenotypic spectrum of ophthalmic findings in patients with Alagille syndrome.
Methods:
We conducted a retrospective, observational, multicenter, study on 46 eyes of 23 subjects with Alagille syndrome. We reviewed systemic and ophthalmologic data extracted from medical records, color fun...
Purpose:
The purpose of this paper was to discuss manifestations of primary mitochondrial dysfunctions and whether the retinal pigment epithelium or the photoreceptors are preferentially affected.
Methods:
A retrospective analysis was performed of patients with clinically and laboratory confirmed diagnoses of maternally inherited diabetes and de...
Introduction
Mutations in the cone-rod homeobox (CRX) gene, a known cause of inherited retinal dystrophy, are characterized by extensive phenotypic heterogeneity. We describe a novel presentation of rod-cone dystrophy (RCD) phenocopying pigmented paravenous retinochoroidal atrophy associated with a mutation in CRX.
Case description
A 53-year-old m...
Chloroquine and its analogue, hydroxychloroquine, are well-known antimalarial medications that are commonly used to treat systemic lupus erythematosus, rheumatoid arthritis, and various other autoimmune conditions.¹ Recently, chloroquine has been used as an adjunct therapy in the treatment of several aggressive cancers, including glioblastoma multi...
Background
Optical coherence tomography (OCT) is a non-invasive imaging test that provides easily obtainable and highly reproducible cross-sectional images of the retina. Improved modalities of the OCT that are capable of providing high quality images of not only the retina, but also the deeper structures and vasculature have been developed, includ...
Gene therapy has been a highly anticipated treatment for previously irreversible, blinding retinal disorders. In 2017, the US Food and Drug Administration approved the first gene therapy, voretigene neparvovec (VN), for treatment of retinal dystrophy caused by biallelic mutations in the RPE65 gene (OMIM 180069).¹ Given the novel nature of gene ther...
A 13-year-old boy was referred to the ophthalmology clinic with enlarging blind spots in the central vision in both eyes. He had no family history of eye problems. At presentation, the visual acuity was 20/40 in the right eye and 20/50 in the left eye. Fundus examination of both eyes showed widespread, yellow, pisciform flecks. Short-wavelength aut...
Fundus autofluorescence is a valuable imaging tool in the diagnosis of inherited retinal dystrophies. With the advent of gene therapy and the numerous ongoing clinical trials for inherited retinal degenerations, quantifiable and reliable outcome measurements continually need to be identified. In this retrospective analysis, normalized and non-norma...
Purpose
To determine whether there is a difference in the prevalence of intraretinal pigment migration (IPM) across age and genetic etiologies of inherited retinal dystrophies (IRDs).
Design
Retrospective cohort study.
Methods
Patients were evaluated at a single tertiary referral center. All patients with a clinical diagnosis of IRD and confirmat...
Background
The C677T variant of the MTHFR (5,10‐Methylenetetrahydrofolate reductase) gene is associated with increased susceptibility to homocystinuria (OMIM#236250), neural tube defects (OMIM#601634), schizophrenia (OMIM#181500), thromboembolism (OMIM#188050), and vascular diseases. Protein S deficiency is also associated with an increased risk of...
Retinitis pigmentosa (RP) is a category of inherited retinal dystrophies that is best prognosticated using electroretinography (ERG). In this retrospective cohort study of 25 patients with RP, we evaluated the correlation between 30 Hz flicker ERG and structural parameters in the retina. Internationally standardized 30 Hz flicker ERG recordings, sh...
Retinitis pigmentosa (RP) is a neurodegenerative disorder that causes irreversible vision loss in over 1.5 million individuals world-wide. The genetic heterogeneity of RP necessitates a broad therapy that is able to provide treatment in a gene- and mutation- non-specific manner. In this study, we identify the therapeutic benefits of metabolic repro...
Retinitis pigmentosa (RP) is described as a bilateral disease with inter-eye symmetry that presents on short-wavelength fundus autofluorescence (SW-AF) imaging with hyperautofluorescent (hyperAF) rings with an ellipsoid shape and regular borders. Nevertheless, both asymmetry and irregular ring morphologies are also observed. In this retrospective s...
Mutations in the gene RPE65 (OMIM: 180069) are recessively inherited and known to cause Leber congenital amaurosis. Recently, the mutation D477G in RPE65 has been identified as a cause of autosomal dominant retinitis pigmentosa (RP). Variable expressivity of this disease has been reported, as carrier individuals can present with mild, nonpenetrant,...
Background:
Mutations in the Kelch-like protein 7 (KLHL7) represent a recently described and, to date, poorly characterized etiology of inherited retinal dystrophy. Dominant mutations in KLHL7 are a cause of isolated, non-syndromic retinitis pigmentosa (RP). In contrast, recessive loss-of-function mutations are known to cause Crisponi or Bohring-O...
Retinitis pigmentosa (RP) is a neurodegenerative disorder that causes irreversible vision loss in over 1.5 million individuals world-wide. In this study, we demonstrate that a metabolic reprogramming can treat degeneration in a Pde6β preclinical model of RP. Pyruvate kinase M2 (PKM2) is a glycolytic enzyme that transfers phosphate from phosphoenolp...
A 38-year-old woman with a history of hypothyroidism and allergic conjunctivitis was referred for evaluation of her left upper eyelid after she noticed drooping for 2 months, which was confirmed on review of old photographs. On physical examination, the patient showed a margin-to-reflex distance 1 (MRD1) of 6 mm on the right and 4 mm on the left, b...
