Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant.

MYRF monoallelic variants have been described in syndromic forms characterized by cardiac-urogenital syndrome and isolated nanophthalmos with/without minor systemic manifestations. We describe a large family with a paternally inherited pathogenic variant in MYRF that manifested as congenital diaphragmatic hernia (CDH), cardiac and urogenital abnormalities, and/or nanophthalmos with significant intrafamilial variability.

Endocyclotamponade with pars plana vitrectomy for management of post-traumatic tractional cyclodialysis cleft.

A female in her 20s presented with a diminution of vision in the right eye (RE) following an open globe injury (scleral penetration) and repair a year back. At the presentation, she had low intraocular pressure (IOP) of 7 mm Hg, posterior subcapsular cataract (PSC), retrolental vitreous bands incarcerated at the penetration site, disc oedema, tortuous vessels and choroidal folds. Inferotemporal and superonasal cyclodialysis clefts were detected on CASIA 2 optical coherence tomography (OCT). The diagnosis of RE repaired scleral penetration, PSC and cyclodialysis cleft with hypotony maculopathy was made. The case was managed by phacoemulsification with an intraocular lens in the bag and a capsular tension ring in the sulcus, as a tamponading agent to close the cleft. Intraoperatively on endoscopic visualisation, vitreous membrane was noticed encasing the ciliary processes causing a tractional cyclodialysis and hence single port 23G pars plana vitrectomy was performed to relieve the traction. Postsurgery, IOP was 14 mm Hg, and the repaired cleft was visualised on anterior segment OCT.

Intraorbital wooden foreign body, legacy of a notorious scrap: a case report.

Wooden foreign bodies are notorious to be fragile and get retained as bits and bobs in the orbit. A 50-year-old woman presented to casualty with complaints of loss of vision and pain in the right eye associated with discharge from a wound in right eye upper lid. On imaging, a wooden foreign body was seen as continuous track of air. Meticulous dissection and search were done to remove bits and bobs of the wood. Patient, however, after 15 days of primary surgery reported with pus collection over wound site. Keeping suspicion of remnant wooden body piece(s), imaging and further exploration were carried out, removal of a 1 cm residual wooden piece was done. Retained wooden foreign body should always be suspected in postoperative cases of intraorbital wooden foreign body with infection. A close follow-up and knowledge of the same stay useful to remove any needless apprehension both of patient and surgeon.