Purpose-Autosomal dominant optic atrophy (DOA) is a major cause of visual impairment in young adults and it is characterized by selective retinal ganglion cell loss. In order to define the prevalence and natural history of this optic nerve disorder, we performed a population-based epidemiological and molecular study of presumed DOA cases in the north of England. Design-Case seriesParticipants-Seventy-six affected probands with a clinical diagnosis of DOA were identified from our neuro-ophthalmology and neurogenetics database.Methods-OPA1 genetic testing was performed using a PCR-based sequencing strategy. OPA1 negative cases were then screened for large-scale OPA1 re-arrangements and OPA3 mutations. Additional affected family members identified through contact tracing were examined and longitudinal visual data was analyzed.Main Outcome Measures-The prevalence and molecular characteristics of DOA in the north of England. Visual function and disease progression among patients with OPA1 positive mutations. Europe PMC Funders Author Manuscripts Europe PMC Funders Author ManuscriptsResults-The detection rate of OPA1 mutations was 57.6% among probands with a positive family history of optic atrophy (19/33) and 14.0% among singleton cases (6/43). About two-thirds of our DOA families harbored OPA1 mutations (14/22, 63.6%), and five novel OPA1 mutations were identified. Only one family carried a large-scale OPA1 rearrangement and no OPA3 mutations were found in our optic atrophy cohort. The minimum point prevalence of DOA in the north of England was 2.87 per 100,000 (95% CI 2.54-3.20), or 2.09 per 100,000 (95% CI 1.95-2.23) when only OPA1 positive cases were considered. Snellen visual acuity varied markedly between OPA1 positive cases with a mean of 20/173 (Range 20/20-hand movement), and visual function worsened in 67.4% of patients during follow-up. The mean rate of visual loss was 0.032 LogMAR/years but some patients experienced much faster visual decline (Range = 0-0.171 LogMAR/years). OPA1 missense mutations were associated with a significantly worse visual outcome compared to other mutational subtypes (P = 0.0001).Conclusions-DOA causes significant visual morbidity and affects at least 1 in 35,000 of the general population.

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The available literature consists mainly of retrospective case reviews which are difficult to reliably interpret and analyse. The one randomised trial included found unilateral surgery more effective than bilateral for basic intermittent exotropia but there remains a need for more carefully planned clinical trials to be undertaken to improve the evidence base for the management of this condition.

Background The clinical management of intermittent exotropia has been discussed extensively in the literature, yet there remains a lack of clarity regarding indications for intervention, the most effective form of treatment and whether or not there is an optimal time in the evolution of the disease at which any treatment should be carried out. Objectives The objective of this review was to analyse the effects of various surgical and non-surgical treatments in randomised trials of participants with intermittent exotropia, and to report intervention criteria and determine the significance of factors such as age with respect to outcome. Search methods We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (which contains the Cochrane Eyes and Vision Group Trials Register) (The Cochrane Library, Issue 4, 2012), MEDLINE (January 1966 to May 2012), EMBASE (January 1980 to May 2012), Latin American and Caribbean Literature on Health Sciences (LILACS) (January 1982 to May 2012), the metaRegister of Controlled Trials (mRCT) (www.controlled-trials.com), ClinicalTrials.gov (www.clinicaltrials.gov) and the WHO International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en). We did not use any date or language restrictions in the electronic searches for trials. We last searched the electronic databases on 4 May 2012. We are no longer searching the UK Clinical Trials Gateway (UKCTG) for this review. We manually searched the British Orthoptic Journal up to 2002, and the proceedings of the European Strabismological Association (ESA), International Strabismological Association (ISA) and American Academy of Paediatric Ophthalmology and Strabismus meeting (AAPOS) up to 2001. We contacted researchers who are active in the field for information about further published or unpublished studies. Selection criteria We included randomised controlled trials of any surgical or non-surgical treatment for intermittent exotropia. Data collection and analysis Each review author independently assessed study abstracts identified from the electronic and manual searches. Author analysis was then compared and full papers for appropriate studies were obtained. Main results We found one randomised trial that was eligible for inclusion. This trial showed that unilateral surgery was more effective than bilateral surgery for correcting the basic type of intermittent exotropia. Authors’ conclusions The available literature consists mainly of retrospective case reviews, which are difficult to reliably interpret and analyse. The one randomised trial included found unilateral surgery more effective than bilateral surgery for basic intermittent exotropia. However, across all identified studies, measures of severity and thus criteria for intervention are poorly validated, and there appear to be no reliable natural history data. There is therefore a pressing need for improved measures of severity, a better understanding of the natural history and carefully planned clinical trials of treatment to improve the e...

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There was no significant difference in the overall accuracy of the OBF tonometer over the Tonopen versus the GAT. The OBF tonometer can be a useful alternative in measuring IOP in post-keratoplasty eyes.

Orbital teratomas are rare embryonic tumors composed of a wide diversity of tissues derived from the three germinal layers. The presenting features include, a healthy newborn with extreme unilateral proptosis; marked stretching of the eyelids over a tense, fluctuating mass, with elongation of the palpebral fissure; enlargement of the bony orbit (two to three times normal size) with subsequent nasal and malar deformities; and transillumination of all or part of the orbital mass. Commonly the eye is normally developed but often vision is not preserved either due to exposure or secondary optic atrophy. The objective in the management of orbital teratoma is to save the eye to encourage orbitofacial development, maintain cosmesis and retain some vision. We report a case of massive congenital orbital teratoma successfully removed by an eyelid-sparing exenteration technique.

Asjes-Tydeman 2006Asjes-Tydeman WL, Groenewoud H, van der Wilt GJ. Timing of surgery for primary exotropia in children.