BackgroundAxenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with distinct phenotypes, but our understanding is incomplete, complicated by the rarity of the condition.MethodsGenetic and phenotypic characterisation of the largest reported ARS cohort through comprehensive genetic and clinical data analyses.Results128 individuals with causative variants in PITX2 or FOXC1, including 81 new cases, were investigated. Ocular anomalies showed significant overlap but with broader variability and earlier onset of glaucoma for FOXC1-related ARS. Systemic anomalies were seen in all individuals with PITX2-related ARS and the majority of those with FOXC1-related ARS. PITX2-related ARS demonstrated typical umbilical anomalies and dental microdontia/hypodontia/oligodontia, along with a novel high rate of Meckel diverticulum. FOXC1-related ARS exhibited characteristic hearing loss and congenital heart defects as well as previously unrecognised phenotypes of dental enamel hypoplasia and/or crowding, a range of skeletal and joint anomalies, hypotonia/early delay and feeding disorders with structural oesophageal anomalies in some. Brain imaging revealed highly penetrant white matter hyperintensities, colpocephaly/ventriculomegaly and frequent arachnoid cysts. The expanded phenotype of FOXC1-related ARS identified here was found to fully overlap features of De Hauwere syndrome. The results were used to generate gene-specific management plans for the two types of ARS.ConclusionSince clinical features of ARS vary significantly based on the affected gene, it is critical that families are provided with a gene-specific diagnosis, PITX2-related ARS or FOXC1-related ARS. De Hauwere syndrome is proposed to be a FOXC1opathy.

Background Lowe syndrome is a rare X-linked disease that is characterized by renal dysfunction, developmental delays, congenital cataracts and glaucoma. Mutations in the oculocerebral renal syndrome of Lowe ( OCRL) gene are found in Lowe syndrome patients. Although loss of vision is a major concern for families and physicians who take care of Lowe syndrome children, definitive cause of visual loss is still unclear. Children usually present with bilateral dense cataracts at birth and glaucoma, which occurs in more than half of cases, either concurrently or following cataract surgery. Materials and methods A retrospective review was conducted on the prevalence and characteristics of ocular findings among families of patients with Lowe syndrome with 137 uniquely affected individuals. Results Of 137 patients, all had bilateral congenital cataracts. Nystagmus was reported in 69.3% of cases, glaucoma in 54.7%, strabismus in 35.0%, and corneal scar in 18.2% of patients. Glaucoma was reported as the most common cause of blindness (46%) followed by corneal scars (41%). Glaucoma occurred in 54.7% of patients and affected both eyes in the majority of cases. Of these patients, 55% underwent surgery for glaucoma, while the remaining patients used medications to control their eye pressure. Timolol and latanoprost were the most commonly used medications. Although trabeculectomy and goniotomy are commonly used for pressure management, aqueous tube shunts had the best outcomes. Conclusion Ocular manifestations in individuals with Lowe syndrome and carriers with OCRL mutation are reported which may help familiarize clinicians with the ocular manifestations and management of a rare and complex syndrome.

AimThe aim of this study is to report cyclodialysis cleft creation during Kahook dual blade (KDB) goniotomy.BackgroundNo known reports of cyclodialysis clefts have been published to the authors’ knowledge after KDB goniotomy.Case descriptionA 55-year-old myopic male with primary open angle glaucoma in both eyes (OU) underwent routine cataract extraction and intraocular lens implant with KDB goniotomy in the right eye (OD). Preoperative intraocular pressures (IOP) OD were in the low 20 mm Hg range on timolol and bimatoprost. Postoperative IOP was 4 mm Hg, with a moderate depth anterior chamber. Gonioscopy was slit in all quadrants, with no structures visible, and no improvement on indentation. Mild macular choroidal folds were present OD. Ultrasound biomicroscopy (UBM) revealed an area of supraciliary fluid. Anterior chamber reformation with viscoelastic was performed and repeat gonioscopy revealed a cyclodialysis cleft from 2:00 to 3:00. Treatment with multiple sessions of argon laser photocoagulation successfully closed the cleft.ConclusionKDB goniotomy may be complicated by cyclodialysis cleft formation and hypotony maculopathy. Visualization of a cleft on gonioscopy may require anterior chamber reformation.Clinical significanceWith an increasing use of KDB for goniotomy, previously unreported complications may arise including cyclodialysis cleft and resultant hypotony maculopathy. Because cleft following KDB goniotomy is rare, suspicion may be low and diagnosis could be delayed in the setting of postoperative hypotony with closed angles.How to cite this articleShue A, Levine RM, et al. Cyclodialysis Cleft Associated with Kahook Dual Blade Goniotomy. J Curr Glaucoma Pract 2019;13(2):74–76.

Superior limbal trabeculectomy remains a common surgical treatment for glaucoma. Positional effects on the overlying upper eyelid-both ptosis and retraction-have been associated with the procedure. More than 1 mechanism may explain retraction; however, the eyelid may elevate mechanically due to the underlying raised superior bulbar conjunctiva.

Purpose: To describe the clinical signs of Descemet membrane (DM) detachment due to forceps-related birth injury and its subsequent management using optical coherence tomography. Methods: Case report. Results: A 3-day-old term infant presented with left eye corneal clouding and a definitive history of traumatic forceps-assisted delivery. Despite topical therapy, corneal clouding persisted, necessitating an examination under anesthesia using ultrasound and handheld optical coherence tomography. This revealed not only a tear in DM but also a large detachment. Injection of air alone failed to achieve apposition of DM to the posterior stroma. Apposition was achieved only after penetration of the overlying cornea with the needle of a 10-0 nylon suture and release of clear viscous fluid. The cornea cleared within the first week and continued in the months to follow. Conclusions: Prolonged corneal edema should alert the physician to probable DM detachment after forceps-related birth injury. Injecting air alone may not be sufficient to reattach the detached DM.