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.

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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.