Multidisciplinary Care for Moebius Syndrome and Related Disorders: Building a Management Protocol.

Moebius syndrome is a collection of orofacial anomalies with highly variable features affecting many different systems but characterised by bilateral facial palsy and absent eye abduction. We largely regard Moebius syndrome as a diagnosis of exclusion. Lack of awareness and knowledge means that children often fall between services, leading to treatment delays and difficulty interfacing with social care and schools, with long-term impact on physical health and psychosocial development. We developed a multidisciplinary team comprising core clinicians (lead physician, geneticist, speech and language therapist, psychologist and specialist nurse) and an expanded group to encompass the other affected systems. The interactions between our specialties lead to the development of a treatment protocol, which we present. The protocol harnesses the aspects of care of children with a range of other rare diseases at a specialised paediatric centre and synthesises them into a holistic approach for MBS and related conditions. Management is sequenced on an "ABC-style" basis, with airway, feeding, vision and speech taking priority in the early years. We define management priorities as airway stabilisation with swallow assessment, ocular surface protection and maintenance of nutritional support. Management principles for issues such as speech, reflux, drooling and sleep issues are outlined. In later years, psychological support has a prominent role geared towards monitoring and interventions for low mood, self-esteem and bullying.

The Impact of the First Peak of the COVID-19 Pandemic on a Paediatric Ophthalmology Service in the United Kingdom: Experience from Alder Hey Children's Hospital.

OBJECTIVE: The COVID-19 pandemic has led to significant service loss across the NHS, and ophthalmology is one of the greatest affected specialties. We attempt to quantify the impact of the first peak of the COVID-19 pandemic on a paediatric ophthalmology unit in a children's hospital in the United Kingdom (UK) and report lessons learnt to aid in the recovery of the service. METHODS AND ANALYSIS: Two eight-week periods of clinical activity were compared; one during the first UK peak of the COVID-19 pandemic and the other during a similar period the previous year. Four areas of clinical activity were included in the study: outpatient clinic appointments, theatre activity, outpatient referrals to ophthalmology and ward reviews. Appointment data was collected from departmental databases. RESULTS: During the first peak of the pandemic, outpatient clinic appointments were reduced by 87.2%, ophthalmic surgery by 90.9%, outpatient referrals to ophthalmology by 50.2% and ward reviews by 50%. The number of actual cancelled appointments was 1377, of which 6.8% were triaged as suitable for teleophthalmology. CONCLUSION: The COVID-19 pandemic has dramatically restricted clinical activity in the ophthalmology service. Paediatric ophthalmology is vulnerable to capacity issues and the consequences of delayed or cancelled appointments. Departments must adapt quickly and maximise capacity to help reduce the backlog and treat patients effectively and safely. Solutions such as teleophthalmology have potential although can be difficult in the paediatric population.

Oliver McFarlane syndrome and choroidal neovascularisation: a case report.

BACKGROUND: Oliver McFarlane syndrome (OMS) is a rare autosomal recessive disorder characterised by pigmentary chorioretinal atrophy with no previous reports of choroidal neovascularisation (CNV). MATERIAL AND METHODS: We describe the history, findings of clinical examination, retinal imaging and electrodiagnostic studies, and the treatment of a patient with CNV secondary to OMS. CASE DESCRIPTION: CNV secondary to OMS was diagnosed in a ten-year-old white female who presented with reduced visual acuity and a macular haemorrhage in her right eye. CNV was confirmed on optical coherence tomography. She was initially treated with a single injection of intravitreal bevacizumab and 2 years later with an injection of intravitreal ranibizumab for a recurrence. Although macular scarring secondary to the CNV was observed, her vision has stabilised and she continues to be closely monitored. CONCLUSION: We report the first case of CNV secondary to OMS and its successful treatment with intravitreal anti-vascular endothelial growth factor injections.

Corneal endothelial dysfunction in Pearson syndrome.

Mitochondrial disorders are associated with well recognized ocular manifestations. Pearson syndrome is an often fatal, multisystem, mitochondrial disorder that causes variable bone marrow, hepatic, renal and pancreatic exocrine dysfunction. Phenotypic progression of ocular disease in a 12-year-old male with Pearson syndrome is described. This case illustrates phenotypic drift from Pearson syndrome to Kearns-Sayre syndrome given the patient's longevity. Persistent corneal endothelial failure was noted in addition to ptosis, chronic external ophthalmoplegia and mid-peripheral pigmentary retinopathy. We propose that corneal edema resulting from corneal endothelial metabolic pump failure occurs within a spectrum of mitochondrial disorders.

Chronic carbon monoxide poisoning resulting in bilateral cataracts and a cystic globus pallidus lesion.

The authors describe a case of a 43-year-old lady who developed bilateral cataracts, seizures and a unilateral cystic lesion of the basal ganglia following low-dose carbon monoxide (CO) exposure over 7 years. Cataract formation may result from sustained oxidative stress as a result of chronic environmental CO exposure.

Recovery of contour integration in relation to LogMAR visual acuity during treatment of amblyopia in children.

PURPOSE: In several studies, researchers have found that integration of orientation information along contours defined by Gabor patches is abnormal in patients with strabismus and in untreated patients with anisometropic amblyopia. In this study, the rate and degree of recovery of contour-integration deficits were compared with the recovery of logMAR (logarithm of the minimum angle of resolution) visual acuity deficits in patients newly diagnosed with amblyopia secondary to anisometropia, strabismus, or both. METHOD: Contour-detection thresholds and optotype acuity were measured in 17 newly diagnosed anisometropic amblyopes, in 6 patients with strabismic amblyopia, and in 4 patients with combined anisometropic and strabismic amblyopia. Contour-detection thresholds were measured with a card-based procedure. Treatment comprised full refractive correction and full-time total occlusion therapy, when necessary. Visual function was measured at monthly visits during the course of treatment, with an average follow-up period of 16 weeks (12-24 weeks) for the entire group. Complete data were obtained from 23 patients through 8 weeks of follow-up. RESULTS: Significant interocular differences in contour-detection thresholds were present in 16 of the 27 patients at the first visit after initial refractive correction. Interocular differences in contour-detection thresholds declined to normal levels in most of the patients within 8 weeks of the initiation of treatment. Interocular acuity differences remained significant in many of the patients (19/23) at 8 weeks of follow-up and continued to decline, but did not fully normalize, over the remainder of the follow-up period. CONCLUSIONS: Refractive correction alone or in combination with occlusion therapy produces a normalization of contour-integration thresholds in amblyopia that is more rapid and complete than that achieved for visual acuity.

Algo sobre los nervios para el médico general / About nerves and the general practitioner

En el presente trabajo, el autor reúne cuáles son las principales preocupaciones y manifestaciones sintomáticas que presenta la inmensa mayoría de pacientes que se consultan en los policlínicos y, que en gran parte, posteriormente son remitidos a las consultas de psiquiatría. Teniendo en cuenta que estos conflictos y síntomas, pueden ser resueltos muy bien por el médico general, se le dan en el presente trabajo algunas pautas y orientaciones que le permitirán profundizar más en los pacientes, logrando de esta manera darle una solución a un problema y por consiguiente a sus síntomas, sin necesidad de que sea remitido a la consulta de psiquiatría. De esta forma se lograrían dos objetivos fundamentales: en primer lugar, un mayor rapport entre el paciente y el médico del área de salud; y en segundo lugar, la presión asistencial psiquiátrica no sería tan fuerte, lo que permitiría una atención especializada de alta calidad(AU)