Jinwoo Han

These findings suggest that NGS is an accurate diagnostic tool to differentiate causes of INS because diagnostic tests, such as electroretinography and optical coherence tomography, are not easily applicable in young infants. Accurate application of NGS using a standardized, stepwise, team-based approach in early childhood not only facilitated early molecular diagnosis but also led to improved personalized management in patients with INS.

BACKGROUND: To describe the ophthalmological manifestations in patients with childhood onset Leigh syndrome (LS) and investigate the correlation between genotypes and phenotypes in patients with LS. METHODS: Childhood onset LS was clinically and enzymatically confirmed in a total of 63 patients. Among them, 44 patients who underwent ophthalmologic consultation were included in this study. Patients with LS underwent genotyping for the whole genome of mitochondrial DNA and SURF1 mutations. The cli

In this study, we investigated the clinical and genetic characteristics of 19 Korean patients with congenital stationary night blindness (CSNB) at two tertiary hospitals. Clinical evaluations, including fundus photography, spectral-domain optical coherence tomography, and electroretinography, were performed. Genetic analyses were conducted using targeted panel sequencing or whole exome sequencing. The median age was 5 (3–21) years at the initial examination, 2 (1–8) years at symptom onset, and 1

PURPOSE: To compare the clinical outcomes of intravitreal bevacizumab (IVB) injection, with different dosing (0.25 mg/0.01 ml versus 0.625 mg/0.025 ml) in each eye of the same patient with retinopathy of prematurity (ROP). METHODS: Intravitreal bevacizumab (IVB) was injected into eight patients with stage 3+ in zone I or posterior zone II ROP (16 eyes). Bevacizumab, with different dosing (0.25 mg/0.01 ml and 0.625 mg/0.025 ml), was injected into the vitreous cavity of each eye. RESULTS: Among th

Greater improvement of aniseikonia after epiretinal membrane peeling was achieved in patients with better preoperative best-corrected visual acuity and shorter symptom durations. Early vitrectomy helped to reduce aniseikonia in patients with epiretinal membrane.

In this study, we investigated medically or surgically actionable genes in inherited eye disease, based on clinical phenotype and genomic data. This retrospective consecutive case series included 149 patients with inherited eye diseases, seen by a single pediatric ophthalmologist, who underwent genetic testing between 1 March 2017 and 28 February 2018. Variants were detected using a target enrichment panel of 429 genes and known deep intronic variants associated with inherited eye disease. Among

We enjoyed reading the review article by Wang and Sadun (1) dealing with drug-induced mitochondrial optic neuropathies. Recently, we evaluated a patient taking linezolid, a synthetic antimicrobial agent effective against gram-positive bacteria, including vancomycin-resistant enterococci and methicillin-resistant staphylococci as well as drug-resistant strains of Mycobacterium tuberculosis (2,3). This antibiotic has been linked to optic neuropathy (4–11). Our patient's presentation appears unusua

<b>Background</b>: Nuclear hormone receptor gene, <i>NR2F1</i>, plays a key role in brain and eye development. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS, MIM #615772) is an autosomal dominant hereditary disorder caused by mutations in this gene. However, there have been few studies describing fundus and optical coherence tomography findings on BBSOAS. <b>Materials and methods</b>: The patient underwent a detailed clinical evaluation and ophthalmic imaging followed by targeted panel ne

PURPOSE: Leber congenital amaurosis (LCA) is a hereditary retinal dystrophy with wide genetic heterogeneity. Next-generation sequencing (NGS) targeting multiple genes can be a good option for the diagnosis of LCA, and we tested a clinical exome panel in patients with LCA. METHODS: A total of nine unrelated Korean patients with LCA were sequenced using the Illumina TruSight One panel, which targets 4,813 clinically associated genes, followed by confirmation using Sanger sequencing. Patients' clin

No author has a financial or proprietary interest in any material or method mentioned.