PURPOSE The CYP1B1 gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in CYP1B1 have been mainly reported in recessive pediatric ocular phenotypes, such as primary congenital glaucoma (PCG) and congenital glaucoma with anterior segment dysgenesis (CG with ASD), with some likely pathogenic variants also identified in families affected with adult-onset primary o...

PURPOSE To investigate the genotype and phenotype of juvenile-onset open angle glaucoma (JOAG) in a Chinese family (PN pedigree). METHODS Each family member was comprehensively examined by an experienced ophthalmologist. The clinical characteristics of the family patients with JOAG were documented. Blood samples were obtained from 22 available participants from the PN pedigree. Linkage analys...

BACKGROUND Myocilin (MYOC) is a gene linked directly to juvenile- and adult-onset open angle glaucoma. Mutations including Pro370Leu (P370L) and Gln368stop (Q368X) have been identified in patients. In the present study, we investigated the processing of myocilin in human trabecular meshwork (TM) cells as well as in inducible, stable RGC5 cell lines. METHODOLOGY/PRINCIPAL FINDINGS The turnover...

Sixty-six cases of advanced proliferative diabetic retinopathy were treated by external diathermy. The eyes had extensive fibrovascular proliferations growing into the vitreous. All had some blood, recent and old, in the vitreous. The vitreous was extremely degenerated and retracted. All the patients had inadequate diabetic control. More than half were hypertensive, with reasonable medical cont...

PURPOSE To investigate the involvement of SPARC (secreted protein acidic and rich in cysteine) mutations and copy number variation in juvenile-onset primary open-angle glaucoma (JPOAG). METHODS This study involved the 27 family members from the GLC1M (glaucoma 1, open angle, M)-linked Philippine pedigree with JPOAG, 46 unrelated Chinese patients with JPOAG and 95 controls. Mutation screening ...

purpose: to evaluate the effect of early drainage of delayed suprachoroidal hemorrhage (sch) after glaucoma surgery. methods: these study reports seven cases of delayed supra-choroidal hemorrhage following glaucoma surgery managed with early drainage. in this series instead of waiting for 7 to 14 days for clot lysis, the sch was drained from the suprachoroidal space immediately after diagnosis....

Ocular anterior segment dysgenesis (ASD) describes a spectrum of clinically and genetically heterogeneous congenital disorders affecting anterior structures that often lead to impaired vision. More importantly, 50-75% of patients with ASD develop early onset and aggressive glaucoma. Although several genes have been implicated in the etiology of ASD, the underlying mechanisms remain elusive. Typ...

OBJECTIVE To assess retrospectively the ocular changes in children and adolescents with juvenile systemic lupus erythematosus (JSLE) in a tertiary pediatric rheumatology service. METHODS This study assessed 117 JSLE patients (85.5% female, 60.7% non-Caucasian), who met at least four criteria of the 1997 SLE classification of the American College of Rheumatology. Their mean age was 10.4 years,...

Glaucoma is the most common cause of blindness, which significantly reduces quality life. Most glaucoma cases are primary glaucoma; nevertheless, many patients suffer from caused by drugs, such as corticosteroids. A comprehensive review risks associated with corticosteroid-induced limited. Therefore, we used Japanese Adverse Drug Event Reporting Database (JADER) published Pharmaceuticals and Me...

PURPOSE Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents early in life. PCG is a clinical and genetic entity that is distinct from juvenile forms of glaucoma. Inheritance is usually autosomal recessive and therefore the disease might be more common in societies where consanguinity is high. We studied the prevalence of cytochrome P450, family 1, subfamily B, polypepti...