Legg-Calve-Perthes' disease: an opportunity to prevent blindness?

Legg-Calve-Perthes' disease (LCP) is defined as avascular necrosis of the femoral head in a child and may present to a variety of disciplines from general practice to orthopaedics, paediatrics, rheumatology and more. The Stickler syndromes are a group of disorders of type II, IX and XI collagen associated with hip dysplasia, retinal detachment, deafness and cleft palate. The pathogenesis of LCP disease remains an enigma but there have been a small number of cases reporting variants in the gene encoding the α1 chain of type II collagen (COL2A1). Variants in COL2A1 are known to cause type 1 Stickler syndrome (MIM 108300, 609508), which is a connective tissue disorder with a very high risk of childhood blindness, and it is also associated with dysplastic development of the femoral head. It is unclear whether COL2A1 variants make a definitive contribution to both disorders, or whether the two are indistinguishable using current clinical diagnostic techniques. In this paper, we compare the two conditions and present a case series of 19 patients with genetically confirmed type 1 Stickler syndrome presenting with a historic diagnosis of LCP. In contrast to isolated LCP, children with type 1 Stickler syndrome have a very high risk of blindness from giant retinal tear detachment, but this is now largely preventable if a timely diagnosis is made. This paper highlights the potential for avoidable blindness in children presenting to clinicians with features suggestive of LCP disease but with underlying Stickler syndrome and proposes a simple scoring system to assist clinicians.

A Randomized Controlled Trial Comparing Microthin Descemet Stripping Automated Endothelial Keratoplasty With Descemet Membrane Endothelial Keratoplasty: Two-Year Report.

PURPOSE: The purpose of this study was to report the 2-year outcomes of a double-blinded randomized controlled trial comparing Descemet membrane endothelial keratoplasty (DMEK) and microthin Descemet stripping automated endothelial keratoplasty (MT-DSAEK). METHODS: Fifty-six eyes of 56 patients were randomized to DMEK or microthin DSAEK (MT-DSAEK). The main outcome measure was best spectacle-corrected visual acuity (BSCVA) at 24 months. Other secondary outcomes included complications, endothelial cell density, and vision-related quality-of-life (vQoL) scores. RESULTS: There was no statistically significant difference in BSCVA between the DMEK and MT-DSAEK groups at the 2-year time point (mean ± SD; 0.04 ± 0.14 vs. 0.12± 0.19, P = 0.061) in contrast to the 1-year results (mean ± SD; 0.04 ± 0.13 vs. 0.11 ± 0.09, P = 0.002) previously reported. Endothelial cell density did not show a statistically significant difference at 24 months between the DMEK and MT-DSAEK groups (1522 ± 293 cell/mm2 vs. 1432 ± 327 cells/mm2, P = 0.27). There were 2 additional graft rejection episodes in the MT-DSAEK group between the 1- and 2-year follow-up periods, but this did not result in graft failure. The mean vQoL scores between DMEK and MT-DSAEK indicated similar patient satisfaction between the groups (97.1 ± 4.0 vs. 92.6 ± 10.2, P = 0.13). CONCLUSIONS: In summary, the trial showed no significant difference in BSCVA at 24 months between the DMEK and MT-DSAEK groups. Both techniques continued to demonstrate comparable outcomes for complication rates, endothelial cell loss, and patient-reported vQoL scores. TRIAL REGISTRATION: ISRCTN10578843.

Successful non-surgical treatment of pseudomonas choroidal abscess in cystic fibrosis with previous double lung transplantation.

Pseudomonas aeruginosa choroidal abscess is a rare condition which tends to affect patients with cystic fibrosis (CF) who have undergone double lung transplantation. Various surgical treatment strategies have been described but almost universally have had a dismal prognosis. We present a case of pseudomonas choroidal abscess in a CF patient with previous double lung transplantation who was managed with medical treatment, with intravitreal and systemic antibiotics, without surgical intervention, which led to successful resolution of the choroidal abscess, preservation of the eye and retention of vision.

Maternal finger-prick allogenic blood for persistent corneal epithelial defects.

This is a case of a 17-year-old patient with aniridia-related keratopathy and persistent epithelial defect (PED) treated successfully using maternal finger-prick blood (FPB). Maternal allogenic FPB treatment was initiated to the patient who was non-compliant with the use of autologous FPB. The PED was successfully managed with maternal FPB treatment with rapid and complete closure of the epithelial defect. Additionally, there was immediate and sustained symptomatic improvement to pain and recovery of vision in the only seeing eye. There was no immunological reaction to allogenic blood. Maternal finger-prick allogenic blood could serve as a potential alternative to serum eye drops or autologous FPB in the management of refractory PED, particularly in reference to the paediatric or the vulnerable age group. Further studies are required to confirm the role of allogenic blood in the treatment of PED.

Microthin Descemet Stripping Automated Endothelial Keratoplasty Versus Descemet Membrane Endothelial Keratoplasty: A Randomized Clinical Trial.

PURPOSE: To compare visual outcomes, complications, and vision-related quality of life (QoL) after microthin Descemet stripping automated endothelial keratoplasty (MT-DSAEK) versus Descemet membrane endothelial keratoplasty (DMEK) for the management of corneal endothelial dysfunction in Fuchs dystrophy. METHODS: This is a prospective, double-blinded randomized controlled clinical trial. Patients with visually significant endothelial decompensation from Fuchs dystrophy were prospectively randomized to receive MT-DSAEK or DMEK surgery. The primary outcome was best spectacle-corrected visual acuity (BSCVA) at 12 months. Secondary outcomes included refraction, keratometry, endothelial cell count, complications, and vision-related QoL at 6 and 12 months postoperatively. RESULTS: A total of 56 eyes of 56 patients were enrolled, 28 in each group. Postoperatively, LogMAR mean BSCVA in the MT-DSAEK group was 0.17 ± 0.08 and 0.11 ± 0.09 at 6 and 12 months compared with 0.09 ± 0.13 and 0.04 ± 0.13 after DMEK (P = 0.03, P = 0.002 respectively) with the DMEK cohort achieving 3.5 logarithm of the minimum angle of resolution letters better BSCVA at 1 year compared with MT-DSAEK. Complication rates were similar with 3.5% rebubbling rate in both groups, 1 primary graft failure in DMEK and a single endothelial rejection in the MT-DSAEK arm. Vision-related QoL was comparable at 6 and 12 months postoperatively, and no eyes demonstrated loss of vision from preoperative BSCVA. CONCLUSIONS: DMEK surgery resulted in significantly better BSCVA at 1, 3, 6, and 12 months postoperatively compared with MT-DSAEK. Patient satisfaction was similar with no differences reported in vision-related QoL scores, as was the complications profile between groups. Thus, our results favor DMEK as the better choice procedure for eyes with Fuchs-related corneal decompensation without ocular comorbidities.

Surgical management of traumatic brain injury.

Traumatic brain injury (TBI) remains a leading cause of mortality and disability worldwide. Surgical intervention is one of the main pillars of TBI management. The mainstay of treatment for substantial intracranial hematomas is surgical evacuation. In addition, patients with TBI may have brain swelling and increased intracranial pressure. If the latter is refractory to medical management, surgical interventions can be helpful. In this review we seek to outline the major tenets of the surgical management of TBI.