Choroidal thickness, but not retinal thickness, correlated closely with axial length and refractive diopters in Chinese children. Choroid thinning occurs before retina thinning early in myopic progression.
Purpose To assess surgical practice patterns among the American Glaucoma Society (AGS) membership. Methods An anonymous online survey evaluating the use of glaucoma surgeries in various clinical settings was redistributed to AGS members. Survey responses were compared with prior results from 1996, 2002, and 2008 to determine shifts in surgical practice patterns. Questions were added to assess the preferred approach to primary incisional glaucoma surgery and phacoemulsification combined with glaucoma surgery. Results A total of 252 of 1,091 (23%) subscribers to the AGS-net participated in the survey. Percentage use (mean ± SD) of trabeculectomy with mitomycin C (MMC), glaucoma drainage device (GDD), and minimally-invasive glaucoma surgery (MIGS) as an initial surgery in patients with primary open angle glaucoma (POAG) was 59% ± 30%, 23% ± 23%, and 14% ± 20%, respectively. Phacoemulsification cataract extraction alone was the preferred surgical approach in 44% ± 32% of patients with POAG and visually significant cataract, and phacoemulsification cataract extraction was combined with trabeculectomy with MMC in 24% ± 23%, with MIGS in 22% ± 27%, and with GDD in 9% ± 14%. While trabeculectomy was selected most frequently to surgically manage glaucoma in 8 of 8 clinical settings in 1996, GDD was preferred in 7 of 8 clinical settings in 2016. Conclusions The use of GDD has increased and that of trabeculectomy has concurrently decreased over the past 2 decades. Trabeculectomy with MMC is the most popular primary incisional surgery when performed alone or in combination with phacoemulsification cataract extraction. Surgeons frequently manage coexistent cataract and glaucoma with cataract extraction alone, rather than as a combined cataract and glaucoma procedure.
Optimal lysosome function requires maintenance of an acidic pH maintained by proton pumps in combination with a counterion transporter such as the Cl À /H þ exchanger, CLCN7 (ClC-7), encoded by CLCN7. The role of ClC-7 in maintaining lysosomal pH has been controversial. In this paper, we performed clinical and genetic evaluations of two children of different ethnicities. Both children had delayed myelination and development, organomegaly, and hypopigmentation, but neither had osteopetrosis. Whole-exome and-genome sequencing revealed a de novo c.2144A>G variant in CLCN7 in both affected children. This p.Tyr715Cys variant, located in the C-terminal domain of ClC-7, resulted in increased outward currents when it was heterologously expressed in Xenopus oocytes. Fibroblasts from probands displayed a lysosomal pH approximately 0.2 units lower than that of control cells, and treatment with chloroquine normalized the pH. Primary fibroblasts from both probands also exhibited markedly enlarged intracellular vacuoles; this finding was recapitulated by the overexpression of human p.Tyr715Cys CLCN7 in control fibroblasts, reflecting the dominant, gain-of-function nature of the variant. A mouse harboring the knock-in Clcn7 variant exhibited hypopigmentation, hepatomegaly resulting from abnormal storage, and enlarged vacuoles in cultured fibroblasts. Our results show that p.Tyr715Cys is a gain-of-function CLCN7 variant associated with developmental delay, organomegaly, and hypopigmentation resulting from lysosomal hyperacidity, abnormal storage, and enlarged intracellular vacuoles. Our data supports the hypothesis that the ClC-7 antiporter plays a critical role in maintaining lysosomal pH.
Axenfeld-Rieger syndrome is a genetic disease affecting multiple organ systems. In the eye, this condition manifests with varying degrees of anterior segment dysgenesis and carries a high risk of glaucoma. Other associated systemic issues include cardiovascular outflow tract malformations, craniofacial abnormalities and pituitary abnormalities, which can result in severe endocrinological sequelae. Recent advances in molecular genetics have identified two major genes, PITX2 and FOXC1, demonstrating a wide spectrum of mutations, which aids in the molecular diagnosis of the disease, although evidence exists to implicate other loci in this condition. The management of individuals affected by Axenfeld-Rieger syndrome requires a multidisciplinary approach and would include dedicated surveillance and management of glaucoma, sensorineural hearing loss, and cardiac, endocrinological, craniofacial and orthopaedic abnormalities.
Choroidal thinning occurs early in myopic progression. Axial length increase and choroidal thinning are independently associated with myopic shift.This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
Patient now 19 years old has intellectual disability, developmental delay, absent speech, seizures, hypotonia, severe motor disability (non-ambulatory), short stature, relative macrocephaly. Patient uses gastric tube for feeding and has gastroesophageal reflux. Facial dysmorphisms include short palpebral fissures, large incisors, full eyebrows. Fingers are short and trident-shaped.Brain MRI revealed progressive cerebral and cerebellar volume loss, hypodensity in the left basal ganglia, unchanged and consistent with a lacune infarct (remote). There is a less conspicuous area of hypodensity on the contralateral side. There are hypodense white matter changes along the periventricular white matter and bilateral centrum semiovale.
Purpose-To investigate the heritability of intraocular pressure (IOP) and cup-to-disc ratio (CDR) in an older well-defined population. Design-Family-based cohort study.Participants-Through the population-based Salisbury Eye Evaluation study, we recruited 726 siblings (mean age, 74.7 years) in 284 sibships.Methods-Intraocular pressure and CDR were measured bilaterally for all participants. The presence or absence of glaucoma was determined by a glacuoma specialist for all probands on the basis of visual field, optic nerve appearance, and history. The heritability of IOP was calculated as twice the residual between-sibling correlation of IOP using linear regression and generalized estimating equations after adjusting for age, gender, mean arterial pressure, race, self-reported diabetes status, and history of systemic steroid use. The heritability of CDR was calculated using the same model and adjustments as above, while also adjusting for IOP.Main Outcome Measures-Heritability and determinants of IOP and CDR, and impact of siblings' glaucoma status on IOP and CDR.Results-We estimated the heritability to be 0.29 (95% confidence interval [CI], 0.12-0.46) for IOP and 0.56 (95% CI, for CDR in this population. Mean IOP in siblings of glaucomatous probands was statistically significantly higher than in siblings of normal probands (mean difference, 1.02 mmHg; P = 0.017). The mean CDR in siblings of glaucomatous probands was 0.07 (or 19%) larger than in siblings of glaucoma suspect referrals (P = 0.045) and siblings of normal probands (P = 0.004).Conclusions-In this elderly population, we found CDR to be highly heritable and IOP to be moderately heritable. On average, siblings of glaucoma patients had higher IOPs and larger CDRs than siblings of nonglaucomatous probands.Primary open-angle glaucoma (POAG) is the second most common cause of blindness in the world 1 and affects approximately 2.2 million Americans. 2 Although the diagnosis of POAG centers on the characteristic excavation and atrophy of the optic nerve head and functional deficit measured by visual field (VF) change, 3 the heritability of intraocular pressure (IOP) and cup-to-disc ratio (CDR) have not been studied extensively thus far, despite the wellestablished role of heredity in POAG. In this study, we estimate the heritability of IOP and CDR from a cohort of sibships recruited through the Salisbury Eye Evaluation study. In addition, we also report the distribution of IOP and CDR among siblings of glaucomatous probands versus siblings of normal probands. Materials and Methods Subjects and General DesignBetween 1993 and 1995, a random sample of potential participants (ages 65 to 84 years) was chosen from the Health Care Financing Administration Medicare database and recruited from Salisbury, located on the Eastern Shore of Maryland, to engage in the population-based Salisbury Eye Evaluation study. 28 The cohort was invited for a follow-up examination including VF testing, optic nerve head imaging, and IOP measurement. All subjects with abnormal scr...
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