Publications by authors named "Jose Gonzalez-Martin"

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.

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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.

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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.

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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.

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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.

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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.

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