In a consanguineous Pakistani family with two affected individuals, a homozygous variant Gly399Val in the eighth transmembrane domain of the taurine transporter SLC6A6 was identified resulting in a hypomorph transporting capacity of ~15% compared with normal. Three-dimensional modeling of this variant has indicated that it likely causes displacement of the Tyr138 (TM3) side chain, important for transport of taurine. The affected individuals presented with rapidly progressive childhood retinal degeneration, cardiomyopathy and almost undetectable plasma taurine levels. Oral taurine supplementation of 100 mg/kg/day resulted in maintenance of normal blood taurine levels. Following approval by the ethics committee, a long-term supplementation treatment was introduced. Remarkably, after 24-months, the cardiomyopathy was corrected in both affected siblings, and in the 6-years-old, the retinal degeneration was arrested, and the vision was clinically improved. Similar therapeutic approaches could be employed in Mendelian phenotypes caused by the dysfunction of the hundreds of other molecular transporters.
Background/aims-Landmines have long been used in conventional warfare. These are antipersonnel mines which continue to injure people long after a ceasefire without diVerentiating between friend or foe, soldier or civilian, women or children. This study focuses on Afghan noncombatants engaged in mine clearing operations in Afghanistan in the aftermath of the Russo-Afghan war. The patterns and types of injuries seen are described and experiences in their management, ways, and means to prevent them, and recommendations for the rehabilitation of the aVected individuals are given. Methods-It is a retrospective and analytical study of 84 patients aged 19-56 years who sustained mine blast injuries during mine clearing operations in Afghanistan from November 1992 to January 1996. The study was carried out at a military hospital with tertiary care facilities. The patients were divided into three groups on the basis of their injuries. Group 1 required only general surgical attention, group 2 sustained only ocular injuries, while group 3 had combined ocular and general injuries. Patients in groups 2 and 3 were treated in two phases. The first phase aimed at immediate restoration of the anatomy, while restoration of function wherever possible was done in subsequent surgical procedures in the second phase. Results-It was observed that 51 out of 84 patients (60.7%) had sustained ocular trauma of a variable degree as a result of the blasts. The mean age of the victims was 29 years and they were all male. A total of 91 eyes of 51 patients (89.2%) had been damaged. Bilaterality of damage was seen in 40 (78.4%) patients. Most, 34 (37.3%), eyes became totally blind (NPL). Only a few escaped with injury mild enough not to impair vision. Foreign bodies, small and multiple, were found in the majority of eyes; most, however, were found in the anterior segment, and posterior segment injuries were proportionally less. Conclusions-The prevalence of blindness caused by mine blast injuries is quite high. The resulting psychosocial trauma to the patients and their families is tremendous and has not been adequately highlighted. These injuries are a great drain on the country's resources. Enforcement of preventive measures and the use of protective gear and sophisticated equipment by the mine clearing personnel would prove to be far more economical in terms of human life as well as medical and economic resources. There is also need for greater attention towards the establishment of support groups and rehabilitation programmes for these individuals. (Br J Ophthalmol 2000;84:626-630)
A case is presented that illustrates selective disinsertion and extrusion of iris tissue after blunt trauma without damage to the intraocular lens (IOL). This was an observational case report of a single patient treated as an inpatient using topical steroids and antiglaucoma drugs. Progress was monitored by tonometry and slitlamp examination. Total absence of iris tissue was discovered after resolution of hyphema with restoration of vision. Absence of iris tissue was confirmed on gonioscopy and fundoscopy. The IOL was found undisplaced and intact in the capsular bag, and visual function was restored. The insertion of foldable IOLs through self-sealing small-incision cataract sections confers protection to the globe in the face of blunt trauma in 2 ways. The self-sealing cataract section acts as a release valve during the compressive phase and allows extrusion of the disinserted iris tissue, whereas the flexible IOL absorbs the impact and prevents disruption of surrounding tissues.
patients with scleritis develop bilateral disease, 50% of whom have delayed onset in the fellow eye, mostly of the same type of scleritis. 8 A high index of suspicion may uncover this sight-threatening but treatable condition. Occasionally a patient with medical training will experience the symptoms of a disorder that may provide a unique opportunity to determine the exact nature of the symptom. This has occurred in the past with lightning flashes from posterior vitreous detachment (PVD) because Moore published the findings of his own photopsia in 1947. 1 We describe an ophthalmologist colleague who suffered bilateral PVD with specific symptoms of black flashes for a brief period before the onset of the typical lightning flashes. One of the authors (LW) a 51-year-old female ophthalmologist with À5.5 D right eye and À6.0 D left developed acute PVD in the left eye. The first symptoms she noticed were black coloured flashes in the inferotemporal periphery. These were momentary, vertically orientated and occurred in a flickering pattern before subsiding and then returning again. After 6 h, they were replaced by white flashes and floaters. She was examined by THW and found to have a PVD with Weis ring. Seven years later, she developed in the right eye a similar pattern of black flashes for 2 h before they were replaced by white flashes and floaters from PVD (confirmed by THW). We suspect that many patients forget or disregard this initial symptom because these flashes are soon replaced by white lightning flashes. Since the presentation by LW, we have on specific questioning found black flashes to be present in other individuals with PVD. The symptom may be due to traction on the axons of the surface of the optic nerve by the vitreous as the PVD process creates the Weis ring thus interrupting the signal from the retina. The fact that the PVD has not yet occurred is suggested by the appearance of floaters and white lightning flashes only after the black flashes have disappeared. Evidence that the PVD process can be traumatic to the optic nerve head can be seen in some patients who develop haemorrhages on the surface of the optic nerve head after PVD. 2,3 This is the first description of black photopsia in PVD that we are aware of. References
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.