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44 English articles
44 English articles
Galactokinase deficiency, also called type II galactosemia, is a congenital metabolic disorder caused by mutations in the GALK1 gene, leading to bilateral cataracts. Early dietary intervention can reverse the cataracts.
A group of autosomal recessive disorders caused by congenital deficiency of enzymes involved in galactose metabolism, leading to accumulation of metabolites. Cataract is the main ophthalmic complication, and early lactose restriction is the basis of treatment.
A subtype of familial adenomatous polyposis caused by APC gene mutation, characterized by colorectal adenomatous polyposis accompanied by osteomas, soft tissue tumors, and epidermal cysts. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is key for early diagnosis.
A syndrome in which transient vision loss occurs only when the eye is held in a specific eccentric position, often caused by optic nerve compression due to an intraconal orbital tumor.
Gelatinous drop-like corneal dystrophy (GDLD) is an autosomal recessive hereditary corneal disease caused by TACSTD2 gene mutations, leading to tight junction dysfunction and amyloid deposition beneath the corneal epithelium. It is relatively common in Japan and was designated as a specified intractable disease in 2019.
In genetic counseling for hereditary eye diseases, explanations of inheritance patterns (autosomal dominant, autosomal recessive, X-linked, maternal inheritance), recurrence risk assessment, and information about genetic testing are provided to support autonomous decision-making by patients and families.
A neuropsychological syndrome characterized by the tetrad of agraphia, acalculia, finger agnosia, and left-right disorientation. It is caused by damage to the dominant hemisphere's parietal lobe (angular gyrus) or disconnection of white matter tracts.
Ghost cell glaucoma is a secondary open-angle glaucoma caused by obstruction of the trabecular meshwork by degenerated red blood cells (ghost cells) after vitreous hemorrhage, and most cases resolve with appropriate treatment.
A rare chronic inflammatory disease occurring in the elderly, characterized by recurrent purulent conjunctivitis against a background of abnormally deep upper eyelid fornix. Colonization by Staphylococcus aureus is the main cause, and fornix shortening surgery is attracting attention as an effective surgical treatment.
A rare benign condition in which the optic disc is congenitally enlarged. It resembles glaucomatous optic neuropathy, but the disc rim area and retinal nerve fiber layer thickness are preserved, and it is not associated with progressive visual dysfunction.
Giant papillary conjunctivitis (GPC) is a conjunctivitis characterized by the formation of giant papillae (≥1 mm in diameter) on the upper tarsal conjunctiva due to mechanical irritation from contact lenses, ocular prostheses, surgical sutures, etc. It is classified as an independent disease type in the Japanese Guidelines for Allergic Conjunctival Diseases (3rd edition) and is most commonly seen in contact lens wearers.
A full-thickness retinal tear extending over 90 degrees (3 clock hours), accounting for approximately 1.5% of rhegmatogenous retinal detachments. Vitrectomy with perfluorocarbon liquid is the standard treatment, and prophylactic treatment of the fellow eye is also important.
This article explains the definition, incidence by surgical type, difficulties in intraocular pressure measurement, precautions for drug therapy, and stepwise treatment strategies including tube shunt surgery for secondary glaucoma occurring after corneal transplantation (PKP, DSAEK, DMEK).
Secondary glaucoma complicating congenital aniridia. Caused by angle abnormalities due to PAX6 gene mutations, occurring in 50–75% of cases. Stepwise intraocular pressure management from medication to surgery is required.
This article explains the etiology of secondary open-angle glaucoma due to elevated episcleral venous pressure (EVP) (CCF direct/dural type, Sturge-Weber syndrome, Radius-Maumenee syndrome, superior vena cava syndrome, cavernous sinus thrombosis, thyroid eye disease), clinical findings of tortuous episcleral vessels and Medusa head, pathophysiology based on the Goldmann formula, diagnosis (gonioscopy, MRI flow void, cerebral angiography 4-vessel angiography), and treatment (aqueous suppressants, Rho kinase inhibitors, Baerveldt valve, age-specific Sturge-Weber treatment algorithm).
Definition, three pathogenic mechanisms (angle closure due to excessive vault, pigment dispersion type, steroid-induced type), diagnosis, and treatment of glaucoma occurring after ICL (phakic intraocular lens) surgery. Based on the 8th edition of the Refractive Surgery Guidelines and the 5th edition of the Glaucoma Practice Guidelines.
This article explains the characteristics, pathogenesis, diagnosis, and treatment of secondary glaucoma caused by infectious diseases (viruses, bacteria, parasites, prions) by pathogen. It details the mechanisms of glaucoma development and treatment strategies for each pathogen, including HSV, CMV, VZV, syphilis, and tuberculosis.
Peters anomaly is a congenital anterior segment dysgenesis characterized by central corneal Descemet membrane and endothelial defects, with glaucoma complicating 50-70% of cases. Treatment of glaucoma follows that of primary congenital glaucoma, with trabeculotomy as the first choice, but good postoperative intraocular pressure control is achieved in only about one-third of cases.
A general term for secondary glaucoma that occurs in association with retinal detachment itself or its surgery. It encompasses multiple conditions such as Schwartz syndrome, ghost cell glaucoma, silicone oil glaucoma, angle rotation glaucoma, and postoperative inflammatory intraocular pressure elevation. This article explains the diagnosis and treatment for each condition.
Glaucoma data standards are standard specifications for sharing and integrating clinical data and imaging data of glaucoma across systems, including DICOM, SNOMED-CT, LOINC, OMOP CDM, etc.
A glaucoma drainage device (GDD) is an implant consisting of a tube and a plate, serving as a surgical option for refractory glaucoma when trabeculectomy is difficult. This article explains domestically approved devices such as Baerveldt® and Ahmed®, surgical techniques, evidence from TVT/PTVT studies, and pediatric indications.
This article explains the definition, classification, risk factors, pathophysiology, diagnosis, and treatment of glaucoma following cataract surgery in childhood (GFCS). It covers incidence, the need for lifelong follow-up, and surgical treatment.
An overview of the epidemiology, diagnostic challenges, and treatment strategies for glaucoma in developing countries. Discusses barriers to healthcare access, surgery-first treatment policies, and the potential of AI screening and telemedicine.
This article explains the etiology, diagnosis, and treatment of pseudophakic glaucoma and aphakic glaucoma that occur after cataract surgery. It covers various mechanisms of intraocular pressure elevation, including retained ophthalmic viscosurgical devices (OVD), steroid-induced glaucoma, UGH syndrome, iris chafing, lens particles, pupillary block, and pigment dispersion. It details pharmacotherapy, including contraindications for Eybelis, and surgical indications.
Glaucoma management during pregnancy and postpartum is a multidisciplinary strategy that includes selection of glaucoma medications, laser therapy, and surgery according to the stage of pregnancy, aiming to balance the risk of drugs to the fetus/newborn with protection of the mother's visual function.
Glaucoma screening is a testing program to detect glaucoma early at an asymptomatic stage and prevent irreversible vision loss. Although mass screening of the general population is not recommended, targeted screening for high-risk groups is useful.
This article explains the pathophysiology, diagnosis, and treatment of secondary glaucoma caused by intraocular tumors. It details the mechanisms of open-angle and angle-closure glaucoma, imaging diagnostics, and the selection of medical and surgical treatments.
This article explains the definition, pathophysiology, causes (JIA), diagnosis, drug therapy, and surgical treatment of secondary glaucoma due to pediatric uveitis. It covers the rate of glaucoma complicating JIA-associated uveitis, differentiation from steroid-induced ocular hypertension, and outcomes of angle surgery, filtering surgery, and GDD.
This article explains the pathology, diagnosis, and treatment of secondary glaucoma associated with uveitis. Intraocular pressure rises due to combined mechanisms of open-angle and angle-closure, leading to glaucomatous optic neuropathy.
Explains the incidence, risk factors, pathophysiology, diagnosis, and repair of tube shunt exposure after glaucoma drainage device (GDD) surgery. Also details preventive measures such as patch graft coverage and scleral tunnel techniques.
An open globe injury caused by a sudden increase in intraocular pressure from blunt external force, resulting in a break in the eyewall. It presents with severe conjunctival hemorrhage, hypotony, and hyphema, but an open wound hidden under the conjunctiva is easily missed. Primary repair within 24 hours is recommended to reduce the risk of endophthalmitis.
A rare syndrome characterized by simultaneous palsy of the sixth cranial nerve (abducens nerve) and the twelfth cranial nerve (hypoglossal nerve). It is strongly associated with clival lesions, and investigation for neoplastic diseases is important.
A congenital craniofacial syndrome resulting from abnormal development of the first and second branchial arches, characterized by the triad of epibulbar dermoid, preauricular tags, and preauricular fistulas. It may also involve abnormalities of the vertebrae, heart, kidneys, and central nervous system.
This article explains the Imbert-Fick principle of the Goldmann applanation tonometer (GAT), the gold standard for intraocular pressure measurement, detailed procedures including fluorescein staining and reading of semicircular images, the influence of central corneal thickness, setting and management of target intraocular pressure, and infection control.
This article explains the principles of Goldmann kinetic perimetry (GP), types of targets, examination techniques, interpretation of isopters, and typical visual field abnormality patterns (hemianopia, concentric constriction, ring scotoma). It is a useful examination method for full-field evaluation in advanced glaucoma, retinitis pigmentosa, and neuro-ophthalmic diseases.
Indications, technique, and complications of Nd:YAG laser goniopuncture. Detailed description of the perforation procedure of the trabecular meshwork and Descemet's membrane as an additional treatment for intraocular pressure elevation after non-penetrating glaucoma surgery (NPGS), and its management.
This article provides a comprehensive explanation of gonioscopy: indications, techniques (static/dynamic/indentation), Shaffer/Scheie/Spaeth classifications, van Herick method, representative abnormal findings (PAS, neovascularization, angle recession, pediatric glaucoma), and comparison with imaging diagnostics.
Explanation of indications, techniques, classification methods, and abnormal findings in gonioscopy. Details on direct and indirect methods, compression gonioscopy, comparison of Shaffer, Scheie, and Spaeth classifications, differentiation from AS-OCT and UBM, and the latest imaging devices.
Gorham-Stout disease (vanishing bone disease) is an extremely rare condition characterized by progressive osteolysis and abnormal proliferation of lymphatic/vascular vessels. When the orbit is involved, it can cause proptosis and visual field defects.
A rare syndrome characterized by the triad of abducens nerve palsy, facial pain, and otorrhea, resulting from the spread of infection to the petrous apex of the temporal bone as a complication of otitis media. This article explains the diagnosis, treatment, and pathophysiology.
An autosomal dominant corneal dystrophy caused by TGFBI gene mutations, leading to deposition of hyaline and amyloid in the corneal stroma. It is classified into type 1 (R555W) and type 2 (R124H, formerly Avellino), with type 2 being overwhelmingly more common in Japan. PTK is the first-line treatment.
Granulomatosis with polyangiitis (GPA) is an ANCA-associated vasculitis characterized by necrotizing granulomatous vasculitis of small to medium vessels. It can affect almost all ocular tissues, including the orbit, sclera, and cornea, and also involves the upper respiratory tract, lungs, and kidneys.
Gyrate atrophy is an autosomal recessive retinal dystrophy caused by deficiency of ornithine aminotransferase due to OAT gene mutation, leading to highly elevated plasma ornithine and progressive atrophy of the choroid and retina. Responsiveness to vitamin B6 influences treatment strategy.
A rare autosomal dominant chorioretinal degenerative disease caused by TEAD1 gene mutation, characterized by spiral atrophy around the optic disc. Also known as Sveinsson chorioretinal atrophy.