![]() ![]() In cultured human retinal pigmented epithelial cells, INPP5B was observed in the primary cilia. In contrast, OCRL is localized in the trabecular meshwork and Schlemm's canal endothelial cells in both human and murine eyes. Using ocular tissues, this study finds low levels of INPP5B present in human trabecular meshwork but high levels in murine trabecular meshwork. The roles of OCRL and INPP5B in the development of cataracts and glaucoma are not understood. INPP5B is a paralog of OCRL and shares similar structural domains. Mutations in OCRL, an inositol polyphosphate 5-phosphatase, result in Oculocerebrorenal syndrome of Lowe, an X-linked recessive disorder that presents with congenital cataracts, glaucoma, renal dysfunction and mental retardation. Inositol phosphatases are important regulators of cell signaling, polarity, and vesicular trafficking. These are otopalatodigital syndrome, complete androgen insensitivity, pseudotrisomy 13, Brachmann-de Lange syndrome, acrofrontofacionasal dysostosis, caudal regression syndrome, and Wolf-Hirschhorn syndrome. A database research revealed reports of childhood glaucoma in rare diseases, which do not include glaucoma in their manifestation. Acquired secondary glaucoma has been associated with uveitis, trauma, drugs, and neoplastic diseases. Childhood glaucoma is also described in systemic disorders of mitotic and metabolic activity. ![]() Systemic diseases associated with childhood glaucoma include the heterogenous group of phakomatoses where glaucoma is frequently encountered in the Sturge-Weber syndrome and its variants, in phakomatosis pigmentovascularis associated with oculodermal melanocytosis, and more rarely in neurofibromatosis type 1. Neural crest alterations lead to the wide spectrum of iridocorneal trabeculodysgenesis. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenesis associated with neural crest anomalies, phakomatoses, metabolic disorders, mitotic diseases, congenital disorders, and acquired conditions. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Primary congenital glaucoma is mostly sporadic however, 10% to 40% of cases are familial. Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. The adverse effects of cataract surgery on the filtration angle structures may influence the results of goniotomy surgery by superimposing a secondary aphakic glaucoma component that may explain the need for alternative glaucoma surgery. Goniotomy was unsuccessful in all (8) operated eyes. Minimal evidence of macular development was observed in a single patient from 1 month of age to his most recent examination at 14 months of age.Ī primary X-linked infantile glaucoma is a defining and frequent component of OCRL and is secondary to expression of a primary filtration angle anomaly. The fundi of 6 of 7 patients showed normal optic disc development with variable abnormalities secondary to glaucoma, and normal retinal vessels. Bilateral goniotomies were unsuccessful in 4 of 4 patients. The angle defects felt to be acquired following lens surgery included a more anterior insertion of the iris on to the trabecular meshwork, pigment dusting of the angle tissues, and iris synechial abnormalities related to the surgery. The observed anomalies were anterior insertion of the iris, narrowing of the ciliary body band, and decreased visibility of the scleral spur. Gonioscopy was performed in 6 OCRL patients and revealed the constant presence of open angles, primary filtration angle anomalies, and defects considered secondary to previous infantile lens extractions. Glaucoma was present in 71% (5 of 7) of patients studied, and was recognized in infancy in 9 of their 10 eyes. The OCRL medical literature reports the frequency of glaucoma, secondary clinical signs of increased intraocular pressure (IOP), and results of glaucoma surgery, but little information related to the responsible filtration angle abnormalities. Signs of glaucoma are defining abnormalities leading to recognition of OCRL. The occurrence of glaucoma, corneal changes secondary to glaucoma, gonioscopic abnormalities, iris features, and response to glaucoma surgery were recorded. ![]() The medical records of 7 patients with OCRL were studied. The scientific literature regarding the glaucoma associated with OCRL from 1952, when the first report of the syndrome appeared, to the present was reviewed. To further describe the glaucoma with the oculocerebrorenal syndrome of Lowe (OCRL) including the responsible filtration angle abnormalities and response to treatment. ![]()
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