Diabetic retinopathy (DR), one of the chronic complications of diabetes, is a serious and irreversible blinding disease. It is difficult to detect in the early stage, to control in the progressive stage, to operate in the advanced stage of DR. Recently, the "14th Five-year plan" for National Eye Health proposed to "improve the management mode of chronic eye disease, and build a chronic disease management system". The project team used artificial intelligence technology based on cloud platform, joint outpatient service, virtual ward to explore the comprehensive management of DR from the aspects of early screening, multidisciplinary collaborative diagnosis and treatment, and refined blood glucose management during perioperative period. In the future, it is urgent to integrate DR chronic disease management with other systemic chronic diseases to reduce the blindness caused by DR.
Humans ; Diabetic Retinopathy/diagnosis* ; Artificial Intelligence ; Mass Screening ; Blindness/prevention & control* ; Diabetes Mellitus

Diabetic retinopathy (DR) is an important cause of blindness globally, and its prevalence is increasing. Early detection and intervention can help change the outcomes of the disease. The rapid development of artificial intelligence (AI) in recent years has led to new possibilities for the screening and diagnosis of DR. An AI-based diagnostic system for the detection of DR has significant advantages, such as high efficiency, high accuracy, and lower demand for human resources. At the same time, there are shortcomings, such as the lack of standards for development and evaluation and the limited scope of application. This article demonstrates the current applications of AI in the field of DR, existing problems, and possible future development directions.
Artificial Intelligence ; Blindness ; Diabetes Mellitus ; Diabetic Retinopathy/diagnosis* ; Humans ; Mass Screening

OBJECTIVE: To detect mutation of NDP gene in a pedigree affected with Norrie disease. METHODS: Sanger sequencing was used to analyze the NDP gene at Xp11.3. Prenatal diagnosis was performed on amniotic fluid sample after the causative gene was detected. RESULTS: Sanger sequencing has revealed a c.2T>C (p.M1T) missense mutation of the NDP gene in the proband and the fetus. The same variation was not found in ClinVar and HGMD database. CONCLUSION The c.2T>C mutation of the NDP gene probably underlies the Norrie disease in this pedigree.
Blindness ; congenital ; Eye Proteins ; Female ; Genetic Diseases, X-Linked ; Humans ; Nerve Tissue Proteins ; Nervous System Diseases ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Retinal Degeneration ; Spasms, Infantile

Blepharoplasty is one of the most popular cosmetic surgical procedures for people who are concerned with minimizing the effects of aging and maintaining an aesthetically attractive appearance. If periorbital surgery is not performed by an expert, the risk of complications increases. In particular, retrobulbar hematoma, which is the most serious complication after blepharoplasty, can lead to permanent blindness. We report a rare case of unilateral permanent blindness due to careless and unprofessional treatment following a retrobulbar hematoma after lower blepharoplasty. In conclusion, it is necessary to check for symptoms and signs including pain, proptosis, visual acuity, and light reflex after the operation. Careful instructions should then be given to patients and their caregivers to avoid actions that may cause postoperative bleeding. We emphasize that if a patient complains of symptoms, painkillers should not be used and computed tomography should be performed for an accurate and rapid diagnosis. Appropriate procedures must then be taken to prevent permanent vision loss.
Aging ; Blepharoplasty ; Blindness ; Caregivers ; Diagnosis ; Exophthalmos ; Hematoma ; Hemorrhage ; Humans ; Reflex ; Retrobulbar Hemorrhage ; Visual Acuity

BACKGROUND: Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date, there are no large-scale data of the genes responsible for IRD in Korea. The aim of this study was to identify the distribution of genetic defects in IRD patients in Korea. METHODS: Medical records and DNA samples from 86 clinically diagnosed IRD patients were consecutively collected between July 2011 and May 2015. We applied the next-generation sequencing strategy (gene panel) for screening 204 known pathogenic genes associated with IRD. RESULTS: Molecular diagnoses were made in 38/86 (44.2%) IRD patients: 18/44 (40.9%) retinitis pigmentosa (RP), 8/22 (36.4%) cone dystrophy, 6/7 (85.7%) Stargardt disease, 1/1 (100%) Best disease, 1/1 (100%) Bardet-Biedl syndrome, 1/1 (100%) congenital stationary night blindness, 1/1 (100%) choroideremia, and 2/8 (25%) other macular dystrophies. ABCA4 was the most common causative gene associated with IRD and was responsible for causing Stargardt disease (n = 6), RP (n = 1), and cone dystrophy (n = 1). In particular, mutations in EYS were found in 4 of 14 autosomal recessive RP (29%). All cases of Stargardt disease had a mutation in the ABCA4 gene with an autosomal recessive trait. CONCLUSION: This study provided the distribution of genetic mutations responsible for causing IRD in the Korean patients. This data will serve as a reference for future genetic screening and treatment for Korean IRD patients.
Bardet-Biedl Syndrome ; Choroideremia ; Diagnosis ; DNA ; Genetic Testing ; Genetic Therapy ; Humans ; Korea ; Macular Degeneration ; Mass Screening ; Medical Records ; Night Blindness ; Retinal Diseases ; Retinaldehyde ; Retinitis Pigmentosa ; Vitelliform Macular Dystrophy

Postoperative visual loss is a rare complication of general anesthesia in patients undergoing lung surgery. If the visual complication is permanent, it can greatly affect the patient's quality of life. Posterior reversible encephalopathy syndrome (PRES) leads to visual disturbances and may be associated with hypertension, renal disease, eclampsia, and chemotherapy. Although PRES is usually reversible, delayed diagnosis and treatment can result in permanent damage. We herein report a case of PRES in a patient with no medical history. The patient's symptoms included somnolence, visual loss, and headache. He was treated with conservative therapy, and his vision abruptly recovered three days after surgery. He was discharged from the hospital without neurologic complications 13 days after surgery.
Anesthesia, General ; Blindness ; Delayed Diagnosis ; Drug Therapy ; Eclampsia ; Female ; Headache ; Humans ; Hypertension, Renal ; Lung* ; Posterior Leukoencephalopathy Syndrome* ; Pregnancy ; Quality of Life

Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with choroideremia. Multimodal imaging studies showed that the probands had progressive loss of visual field with characteristic chorioretinal atrophy, while electroretinography demonstrated nearly extinguished cone and rod responses compatible with choroideremia. Sanger sequencing of all coding exons and flanking intronic regions of the CHM gene revealed a novel small deletion at a splice site (c.184_189+3delTACCAGGTA) in one patient and a deletion of the entire exon 9 in the other. This is the first report on a molecular genetic diagnosis of choroideremia in Korean individuals. Molecular diagnosis of choroideremia should be widely adopted for proper diagnosis and the development of new treatment modalities including gene therapy.
Atrophy ; Blindness ; Choroideremia* ; Clinical Coding ; Diagnosis ; Electroretinography ; Exons ; Genetic Therapy ; Humans ; Introns ; Molecular Biology ; Multimodal Imaging ; Night Blindness ; Visual Fields

PURPOSE: To report a case of recovery of bilateral cortical blindness in a patient with posterior reversible encephalopathy syndrome. CASE SUMMARY: A 46-year-old female visited the ophthalmology department due to abrupt visual acuity decrease. Ten days earlier, she had received conservative management due to anemia caused by menorrhagia and uterine prolapse. She underwent a gynecological operation to remove a uterine myoma two days previously, and was given a blood transfusion postoperatively because of excessive bleeding. After the transfusion, she complained of acute blurred vision. Her best corrected visual acuity (BCVA) was hand motion 10 cm in both eyes. There were no abnormal specific findings except retinal dot hemorrhage at the temporal side in the left eye on fundus examination. Her pupillary light reflex was normal and optical coherence tomography examination was unremarkable in both eyes. However, flash visual evoked potential findings showed reduced P100 amplitude in both eyes and she was diagnosed with posterior reversible encephalopathy syndrome based on brain magnetic resonance imaging. After close observation without any treatment, the symptoms gradually improved. Finally, her BCVA recovered to 1.0 and P1 and P100 amplitudes were restored to normal range in both eyes at 16 weeks from the first diagnosis. CONCLUSIONS: A patient complained of bilateral visual loss without other neurological symptoms after chronic blood loss and blood transfusion. She recovered visual acuity completely with prompt diagnosis of posterior reversible encephalopathy syndrome and close observation only.
Anemia ; Blindness, Cortical ; Blood Transfusion ; Brain ; Diagnosis ; Evoked Potentials, Visual ; Female ; Hand ; Hemorrhage ; Humans ; Leiomyoma ; Magnetic Resonance Imaging ; Menorrhagia ; Middle Aged ; Ophthalmology ; Posterior Leukoencephalopathy Syndrome* ; Reference Values ; Reflex ; Retinaldehyde ; Tomography, Optical Coherence ; Uterine Prolapse ; Vision Disorders* ; Visual Acuity

No abstract available.
Adult ; Alleles ; Asian Continental Ancestry Group/*genetics ; Bardet-Biedl Syndrome/diagnosis/*genetics ; Base Sequence ; Blindness/pathology ; DNA/chemistry/metabolism ; Exons ; *Heterozygote ; Humans ; Macular Degeneration/diagnosis ; Male ; *Mutation ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide ; Proteins/*genetics ; Republic of Korea

A 52-yr-old male was referred for progressive visual loss in the left eye. The decimal best-corrected visual acuity (BCVA) was 0.01. Fundus examination revealed diffuse retinal pigment epithelial degeneration, focal yellow-white, infiltrative subretinal lesion with fuzzy border and a live nematode within the retina. Diffuse unilateral subacute neuroretinitis (DUSN) was diagnosed and the direct laser photocoagulation was performed to destroy the live nematode. During eight months after treatment, BCVA gradually improved to 0.2 along with the gradual restoration of outer retinal layers on SD-OCT. We report on the first case of DUSN in Korea. DUSN should be included in the differential diagnosis of unexplained unilateral visual loss in otherwise healthy subjects.
Animals ; Blindness/diagnosis/parasitology ; Eye Infections, Parasitic/diagnosis/parasitology/*therapy ; Fundus Oculi ; Humans ; Laser Therapy/methods ; Light Coagulation/methods ; Male ; Middle Aged ; Nematoda/*pathogenicity ; Republic of Korea ; Retinal Pigment Epithelium/*parasitology/pathology ; Retinitis/diagnosis/*parasitology/*therapy ; Visual Acuity