A Novel Medial Canthal Reconstruction Technique in Children With Blepharophimosis Syndrome.

PURPOSE: There are different techniques for medial canthoplasty in blepharophimosis syndrome where individuals have epicanthus inversus and telecanthus leading to typical facial appearances. These methods have potential problems with scarring, epistaxis, and extrusion of metal plates. METHODS: The authors describe a novel technique of medial canthal reconstruction using titanium microplates with microscrew fixation to the anterior lacrimal crest, with effective, safe, and reproducible results. RESULTS: Seven children with blepharophimosis syndrome underwent medial canthus reconstruction surgery at a single center with the collaboration of a pediatric oculoplastic surgeon and craniofacial plastic surgeon to improve eye opening through correction of the lid contours and telecanthus. CONCLUSIONS: This is a safe, effective, and reproducible technique, with minimal morbidity and rapid postoperative recovery in children. It produces cosmetically acceptable scars and a strong stable reconstruction of the medial canthal insertion.

Functional vision and quality of life in children with microphthalmia/anophthalmia/coloboma-a cross-sectional study.

PURPOSE: To determine the child's and parental perception of functional visual ability (FVA), vision-related and health-related quality of life (VR-QoL, HR-QoL) in children with microphthalmia/anophthalmia/coloboma (MAC). METHODS: Between June 25, 2014, and June 3, 2015, we carried out a cross-sectional observational study at Moorfields Eye Hospital, London, UK, enrolling 45 children 2-16 years of age with MAC attending our clinics, and their parents. To assess FVA, VR-QoL, and HR-QoL we asked participants to complete three validated tools, the Cardiff Visual Ability Questionnaire for Children (CVAQC), the Impact of Vision Impairment for Children (IVI-C) instrument, and the PedsQL V 4.0. The main outcome measures were the FVA, VR-QoL, and HR-QoL scores, reported by children and parents. RESULTS: In children with MAC, FVA is moderately reduced, with a median CVAQC score of -1.4 (IQR, -2.4 to 0.4; range, -3.0 [higher FVA] to +2.8 [lower FVA]). VR-QoL and HR-QoL are greatly reduced, with an IVI-C median score of 63 (IQR, 52-66; normal VR-QoL, 96), a median self-reported PedsQL score of 77 (IQR, 71-90; normal HR-QoL, 100) and parental score of 79 (IQR, 61-93), and a family impact score of 81 (67-93). Psychosocial well-being scores are lower than physical well-being scores. Parents and children have a different perception of the impact of the condition on the child's HR-QoL. CONCLUSIONS: MAC has a significant impact on a child's FVA and QoL, similar to that described by children with acute lymphoblastic leukaemia and chronic systemic conditions. Children and families may benefit from psychosocial support.

Quality of Life and Functional Vision in Children with Glaucoma.

PURPOSE: To evaluate the effect of glaucoma on functional vision and on vision-related (VR) and health-related (HR) quality of life (QoL) in children up to 16 years of age. DESIGN: Cross-sectional observational study. PARTICIPANTS: One hundred nineteen children 2 to 16 years of age (mean age, 9.4 years; standard deviation [SD], 4.56 years) with glaucoma and their parents. METHODS: Completion of 3 validated instruments for children to assess (1) functional visual ability (FVA) with the Cardiff Visual Ability Questionnaire for Children (CVAQC), (2) VR QoL with the Impact of Vision Impairment for Children (IVI-C), and (3) HR QoL with the Pediatric Quality of Life Inventory (PedsQL) version 4.0. MAIN OUTCOME MEASURES: Cardiff Visual Ability Questionnaire for Children, IVI-C, and PedsQL scores. RESULTS: Scores for FVA, VR QoL, and HR QoL were reduced in children with glaucoma: median CVAQC score, -1.24 (interquartile range [IQR], -2.2 to -0.11; range, -3.00 higher visual ability to +2.80 lower visual ability); mean IVI-C score, 67.3 (SD, 14.4; normal VR QoL, 96); median PedsQL self-report, 78.8 (IQR, 67.4-90.2); parent report, 71.2 (IQR, 55.7-85.8); and family impact score, 74.3 (IQR, 56.9-88.5; normal HR QoL, 100). Psychosocial subscores were lower than physical subscores on the PedsQL. Older children reported less impairment on CVAQC, IVI-C, and PedsQL than younger children. Parents reported greater impact on their child's HR QoL than children reported themselves. CONCLUSIONS: Glaucoma and its management have a marked impact on a child's FVA and QoL. Children with glaucoma report HR QoL scores similar to those described by children with severe congenital cardiac defects, who have undergone liver transplants, or who have acute lymphoblastic leukemia.

Orbital mass secondary to infantile acute lymphoblastic leukaemia.

An 8-month-old Asian infant girl was referred with a 1-week history of left periorbital swelling on a background of a narrowed left palpebral aperture over the preceding 8 weeks. There was no history of chronic illness, fever or other systemic features. Examination revealed a tender and fluctuant medial canthal swelling with associated periorbital haematoma. There were no other ophthalmic findings and neurological examination was normal. A MRI scan of the brain and orbit demonstrated abnormal soft tissue with features of an aggressive tumour in the left orbital region with no globe invasion. Peripheral blood smear revealed blast cells, confirmed by bone marrow aspirate. A diagnosis of infant acute lymphoblastic leukaemia was made. The patient was started on risk-stratified chemotherapy according to the Interfant-06 Protocol The periorbital swelling resolved by day eight following a course of prednisolone, the patient continues on chemotherapy and is currently in molecular remission.

Altered ratios of pro- and anti-angiogenic VEGF-A variants and pericyte expression of DLL4 disrupt vascular maturation in infantile haemangioma.

Infantile haemangioma (IH), the most common neoplasm in infants, is a slowly resolving vascular tumour. Vascular endothelial growth factor A (VEGF-A), which consists of both the pro- and anti-angiogenic variants, contributes to the pathogenesis of IH. However, the roles of different VEGF-A variants in IH progression and its spontaneous involution is unknown. Using patient-derived cells and surgical specimens, we showed that the relative level of VEGF-A165 b was increased in the involuting phase of IH and the relative change in VEGF-A isoforms may be dependent on endothelial differentiation of IH stem cells. VEGFR signalling regulated IH cell functions and VEGF-A165 b inhibited cell proliferation and the angiogenic potential of IH endothelial cells in vitro and in vivo. The inhibition of angiogenesis by VEGF-A165 b was associated with the extent of VEGF receptor 2 (VEGFR2) activation and degradation and Delta-like ligand 4 (DLL4) expression. These results indicate that VEGF-A variants can be regulated by cell differentiation and are involved in IH progression. We also demonstrated that DLL4 expression was not exclusive to the endothelium in IH but was also present in pericytes, where the expression of VEGFR2 is absent, suggesting that pericyte-derived DLL4 may prevent sprouting during involution, independently of VEGFR2. Angiogenesis in IH therefore appears to be controlled by DLL4 within the endothelium in a VEGF-A isoform-dependent manner, and in perivascular cells in a VEGF-independent manner. The contribution of VEGF-A isoforms to disease progression also indicates that IH may be associated with altered splicing. © 2016 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland.

Sclerotherapy treatment of orbital lymphatic malformations: a large single-centre experience.

BACKGROUND: Percutaneous sclerotherapy is an alternative to surgery for the treatment of orbital lymphatic malformations (LMs). We present a large series of patients undergoing sclerotherapy for macrocystic LMs with detailed visual acuity (VA) outcome data. METHODS: Data were collected prospectively in all patients with macrocystic orbital LMs undergoing sclerotherapy. Sclerotherapy was performed under general anaesthesia, instilling sodium tetradecyl sulfate under imaging control. Procedures were repeated at 2-week to 6-week intervals, depending on clinical response. Patients underwent ophthalmological assessment, ultrasound and/or MRI before and after treatment. PRIMARY OUTCOME MEASURE: change in maximal radiological diameter of the LM. SECONDARY OUTCOME MEASURE: change in VA after treatment. RESULTS: 29 patients underwent 71 procedures (1-8 procedures per patient) over 6.7 years. Mean age=7.31 years. 11 patients (37.9%) had undergone previous treatment, including excision biopsy, drainage and decompression. All patients presented with proptosis and/or pseudoptosis. 23 patients (79.3%) had decreased VA at presentation. Average follow-up was 21.8 months (range 3-75 months). All patients achieved a reduction in maximal lesion diameter of ≥50%, with complete radiological resolution in 51.7% (n=15). VA improved in 18/23 patients (78.2%). Average logMAR before treatment=0.43 (SD ±0.47); average after treatment=0.25 (SD ±0.32); p<0.01. There was one complication (1.4%): one patient required a lateral canthotomy for an intralesional haematoma 2 h after sclerotherapy. CONCLUSIONS: Sclerotherapy is a safe and highly effective treatment for orbital LMs with excellent VA outcomes. It should be considered as the first-line treatment for this condition.

Modified supramid brow suspension in paediatric ptosis.

PURPOSE: To understand the safety and complication profile of the modified supramid brow suspension surgery in the paediatric ptosis. DESIGN: Retrospective interventional case series. METHODS: Review of medical notes of 32 patients who underwent supramid brow suspension surgery of the upper lid. Surgery was performed by a single surgeon at Great Ormond Street Hospital, London during 2007-2012. Complication rates were analysed. RESULTS: Forty-six eyes of 32 patients underwent upper eye lid brow suspension surgery; 18 cases were unilateral and 14 bilateral. Mean follow-up period is 28 months after the surgery. Post-operative granulomatous reaction was noted in 6 eyes (13%) and prolonged exposure keratopathy in 2 eyes (4.3%). There were no cases of suture infection or exposure. No recurrence of ptosis was observed in any of the operated cases. Pupillary axis clearance was achieved in all eyes. CONCLUSION: Modified brow suspension surgery using supramid for upper eyelid ptosis is a safe and clinically useful procedure with low complication rate.

Orbital carcinoid metastases.

OBJECTIVE: To describe a series of patients with metastatic orbital carcinoid tumors. DESIGN: Retrospective case series and literature review. PARTICIPANTS AND METHODS: Patients were identified from the orbital database and pathology records at Moorfields Eye Hospital. Records were evaluated for age at presentation, race, gender, laterality, visual function and clinical features, site of orbital metastasis, treatment, and outcome. The site of the primary tumor, presence of systemic symptoms, diagnosis and treatment of the primary tumor, and current survival status were also noted. MAIN OUTCOME MEASURES: Time from tumor to death. RESULTS: Thirteen patients (9 male) had an average age at biopsy-proven diagnosis of 65.3 years. The primary tumor was ileal in 7, colonic in 4, and from bronchus and breast (1 each); in 9 patients, the primary tumor was already known. Eleven of the 13 patients had noted a mass, 8 had diplopia, 3 had reduced vision, and only 2 had orbital pain. One patient presented with visual hallucinations. Imaging showed single muscle enlargement in 7 patients, a discrete mass in 5, and diffuse fat infiltration in 1 patient. Six patients underwent a meta-iodobenzyl guanidine/octreotide scan and metastatic disease was found in 4. Four patients underwent exenteration, 5 had radiotherapy after tumor debulking, 2 had radiotherapy alone, and 2 patients had local radiotherapy with receptor-targeted chemotherapy. Seven patients died from metastatic tumor. Kaplan-Meier analysis showed a 5-year survival rate of 72% and a 10-year survival rate of 38%. Comparison of the current series with other published series shows a significant difference (improvement) in survival at 5 years (P = 0.027) but not at 10 years (P = 0.08). CONCLUSIONS: The largest published series of orbital carcinoid tumors is presented, there being a recent trend towards less aggressive surgical management and probably a greater survival rate.