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Congenital fibrosis of the extraocular muscles (CFEOM) is one of the congenital cranial dysinnervation disorders (CCDDs). This review discusses the characteristics of the CFEOM phenotypes and the CCDDs, the fibrosis associated with these disorders and the processes, and genes involved in the embryological development of cranial neuromuscular units. In particular, it focuses on the genetics of neural crest identity, axon guidance, and axon construction in relation to the CFEOMs and some consideration of treatment strategies.摘要: 先天性眼外肌纤维化 (CFEOM) 是一种先天性颅神经功能障碍 (CCDDs) 。本文综述了CFEOM与CCDDs的临床表型的特点, 纤维化与与这两种疾病的相关性以及在颅神经肌肉单元的胚胎发育中的相关过程及与其相关的基因。我们特别着重描述了与CFEOMs相关的神经嵴识别的基因、轴突引导和轴突构建及其针对性的治疗策略。.

The aim of this report is to increase awareness of a possible association between cranial nerve paresis and the use of sumatriptan in migraine sufferers, particularly in patients who have additional vascular risk factors. We describe a series of three cases where third nerve paresis developed in patients who were treated with the oral form of sumatriptan. All of the patients had a clear history of repetitive migraine headache and none of them had previous third nerve paresis. Among a variety of medications for the treatment of migraine, there are some drugs with vasoconstrictive effects, particularly triptans. These drugs may be a contributing factor for microvascular damage of the cranial nerves and other organs.

IntroductionDissociated tests of strabismus provide valuable information for diagnosis and monitoring of ocular misalignment in patients with normal retinal correspondence. However, they are vulnerable to operator error and rely on a fixed head position. Virtual reality headsets obviate the need for head fixation, while providing other clear theoretical advantages, including complete control over the illumination and targets presented for the patient's interaction.PurposeWe compared the performance of a virtual reality-based test of ocular misalignment to that of the traditional Lees screen, to establish the feasibility of using virtual reality technology in ophthalmic settings in the future.MethodsThree patients underwent a traditional Lees screen test, and a virtual reality headset-based test of ocular motility. The virtual reality headset-based programme consisted of an initial test to measure horizontal and vertical deviation, followed by a test for torsion.ResultsThe pattern of deviation obtained using the virtual reality-based test showed agreement with that obtained from the Lees screen for patients with a fourth nerve palsy, comitant esotropia, and restrictive thyroid eye disease.ConclusionsThis study reports the first use of a virtual reality headset in assessing ocular misalignment, and demonstrates that it is a feasible dissociative test of strabismus.

PURPOSE: We validate a video-based method of head posture measurement. METHODS: The Cambridge Face Tracker uses neural networks (constrained local neural fields) to recognize facial features in video. The relative position of these facial features is used to calculate head posture. First, we assess the accuracy of this approach against videos in three research databases where each frame is tagged with a precisely measured head posture. Second, we compare our method to a commercially available mechanical device, the Cervical Range of Motion device: four subjects each adopted 43 distinct head postures that were measured using both methods. RESULTS: The Cambridge Face Tracker achieved confident facial recognition in 92% of the approximately 38,000 frames of video from the three databases. The respective mean error in absolute head posture was 3.34°, 3.86°, and 2.81°, with a median error of 1.97°, 2.16°, and 1.96°. The accuracy decreased with more extreme head posture. Comparing The Cambridge Face Tracker to the Cervical Range of Motion Device gave correlation coefficients of 0.99 (P < 0.0001), 0.96 (P < 0.0001), and 0.99 (P < 0.0001) for yaw, pitch, and roll, respectively. CONCLUSIONS: The Cambridge Face Tracker performs well under real-world conditions and within the range of normally-encountered head posture. It allows useful quantification of head posture in real time or from precaptured video. Its performance is similar to that of a clinically validated mechanical device. It has significant advantages over other approaches in that subjects do not need to wear any apparatus, and it requires only low cost, easy-to-setup consumer electronics. TRANSLATIONAL RELEVANCE: Noncontact assessment of head posture allows more complete clinical assessment of patients, and could benefit surgical planning in future.

Vernal keratoconjunctivitis (VKC), an allergic inflammation of the conjunctiva affecting mainly children and adolescents, is categorized under the rubric of allergic conjunctivitis. Lack of uniform diagnostic and predefined staging criteria has been a bottleneck in formulating fixed guidelines to treat VKC. This lack of consensus among clinicians/researchers regarding diagnostic and grading standards has prevented us from making comparisons between the outcomes of different studies. To treat VKC, selection of a drug from many available options should be based on the duration and frequency of symptoms, grade and inflammation of giant papillae, and severity of corneal involvement. Consideration also should be given to the patient's specific needs. The basic tenet of treatment is optimal control of symptoms with a minimum of toxic side effects resulting from prolonged use of medication.

PurposeThe patient journey from detection of an eye problem by optometrists to assessment and treatment by ophthalmologists can be streamlined by direct referral from optometrist to hospital eye service (HES). This requires locally agreed guidelines and training and feedback for optometrists to ensure high diagnostic competence. The purpose of this paper is to evaluate the quality of the West Suffolk Direct Referral Scheme, one of the first direct referral schemes in the UK to include all ophthalmic sub‐specialties.Design/methodology/approachTwo‐cycle audit of existing practice, including all new patients referred by optometrists and seen at West Suffolk Hospital during a three‐month period in 2003 and a seven‐week period in 2006. Three interventions: direct referral clinics for urgent patients; introduced in 2003; six‐monthly training sessions for optometrists; and regular, prompt feedback via letter about individual consultation outcome. Prospective data collection via proforma in both cycles; additional retrospective data collection in the second cycle. Diagnostic accuracy, perception of urgency and request of subspecialty clinic were evaluated.FindingsThe direct referral scheme streamlines the patient journey, and patients with acute problems have fast access to HES. In total, 99 per cent of referrals are appropriate. Diagnostic competence is high (87 per cent), and has improved with tighter communication between HES and optometrists. Agreement is less for referral urgency (75 per cent) and choice of subspecialty clinic (74 per cent).Originality/valueThe West Suffolk Direct Referral Scheme provides an efficient service of high quality. Good communications and continued feedback between community‐ and hospital‐based eye care services improve standards and facilitate efficient use of resources.

PurposeClient satisfaction is an important outcome measure of healthcare services. The aims of the present work are to develop a tool to assess client satisfaction with the components of streamlined cataract services and to conduct a pilot study to evaluate its reliability and validity.Design/methodology/approachA validated patient satisfaction questionnaire was modified for use in a cataract service and validated by expert panel and patient focus group approach. Two versions were used to evaluate pre‐operative assessment clinic and day surgical unit. The questionnaires comprised items covering individual domains of client satisfaction plus one global satisfaction item. Together with a visual analogue scale (VAS) the questionnaires were administered to 200 consecutive cataract patients.FindingsThe questionnaires were returned by 165 patients (82.5 per cent). Median individual item and global scores in the pre‐operative group were 87 and 100 per cent, respectively. In the day‐of‐surgery group median scores were 91 and 100 per cent, respectively. Mean VAS scores were 95.5 per cent (SD 5.6) and 94.5 per cent (SD 6.4), respectively. Cronbach's alpha was 0.768 for the pre‐operative and 0.636 for the day‐of‐surgery questionnaire. Spearman's correlation coefficient between individual item score and the VAS score was 0.350 (p=0.005) for the pre‐operative and 0.302 (p=0.028) for the day‐of‐surgery questionnaire. Spearman's correlation coefficient between individual item score and the global satisfaction score was 0.566 (pp=0.004) for the day‐of‐surgery questionnaire.Originality/valueThe questionnaire appears to be a useful tool for measuring client satisfaction with a one‐stop cataract pre‐assessment service where surgery is performed at a second visit, which other cataract service providers might adapt for local use.

Background Inferior oblique anterior transposition (IOAT) is an effective surgical procedure for weakening the inferior oblique muscle. The purpose of this study was to assess the effectiveness and complications of IOAT for superior oblique paresis at a single center over a period of 11 years. Methods The medical records of consecutive patients treated for congenital and acquired fourth nerve paresis with IOAT procedures at Addenbrookes Hospital, Cambridge, from 2001 to 2012 were retrospectively reviewed. All patients were examined before and after surgery: the vertical deviation in primary position and on contralateral gaze was measured, as were versions. The data collected included patient sex and age, presenting complaint, follow-up period, abnormal head position before and after surgery, postoperative complications, and further operative procedures. Results A total of 98 IOAT procedures were reviewed, with a mean follow-up of 5.8 months. The technique produced a mean correction of 9.5 Δ in primary position and 17 Δ in contralateral gaze. Inferior oblique overaction was reduced in all cases, with 20% having a residual overaction and 47% having an underaction. No patients had symptomatic antielevation syndrome. Conclusions In this patient cohort, IOAT effectively managed appropriately selected patients with superior oblique paresis, improving the vertical deviation in primary position and contralateral gaze. The procedure induced limitation of elevation in some patients. No patient experienced major postoperative symptoms.

To estimate the prevalence of posterior embryotoxon (PE) in the general ophthalmic clinic and to identify any features of PE that suggest that it is pathological rather than physiological. Over 700 consecutive patients of all ages were examined with the slit lamp during their routine eye clinic appointment. Patients with posterior embryotoxon were invited to return for full ocular examination including keratometry, corneal topography, and gonioscopy. In all, 49 out of 723 patients were found to have PE. This gives a prevalence of 6.8% with an age range of 18 months to 95 years. There was a higher prevalence in the younger age group of 22.5% (age range 18 months to 20 years) compared to 5.9% in the older age range (21–95 years). A total of 29 patients with PE returned for further examination. Six patients had glaucoma (two with Axenfeld's syndrome and one with aniridia), and one had ocular hypertension. In all, 20 patients had bilateral PE on slit-lamp examination, which increased to 24 with gonioscopy. The majority of the PE was seen temporally (97.9%) and limited to a few clock hours. Gonioscopy showed that eight patients with PE had associated inferior pigmentation of schwalbes line. This large series found the prevalence of PE the general ophthalmic clinic to be 6.8%. Its presence should prompt careful anterior segment examination, including gonioscopy, to identify any associated abnormalities that may carry a risk of glaucoma. Children should also be assessed for any associated systemic or genetic abnormality.

Amblyopia is a common condition affecting 2% of all children and traditional treatment consists of either wearing a patch or penalisation. We have developed a treatment using stereo technology, not to provide a 3D image but to allow dichoptic stimulation. This involves presenting an image with the same background to both eyes but with features of interest removed from the image presented to the normal eye with the aim to preferentially stimulated visual development in the amblyopic, or lazy, eye. Our system, called I-BiT can use either a game or a video (DVD) source as input. Pilot studies show that this treatment is effective with short treatment times and has proceeded to randomised controlled clinical trial. The early indications are that the treatment has a high degree of acceptability and corresponding good compliance. © (2015) COPYRIGHT Society of Photo-Optical Instrumentation Engineers (SPIE).

What is the clinical problem? Children with a significant esotropia for near but a smaller or no deviation for distance. What is the controversy? There are two treatment strategies. Patients may be managed either with optical correction (bifocal glasses) or with surgery. What are the important issues? Are we treating a homogeneous group? What are the objectives of treatment? What are the outcome measures? Is one treatment strategy more effective than the other? What are the complications of each treatment strategy? Can we create an evidence based treatment strategy? Much of the controversy that has arisen in the management of convergence excess esotropia results from differences in definition. A review of the literature reveals a number of studies concerning the management of convergence excess esotropia which are clearly dealing with different, although related, conditions. This makes comparison of outcomes difficult. The major difference in management is the use of optical treatment in North America (mainly bifocal glasses), whereas in Europe the same condition is more likely to be treated with surgery. Miotics are no longer used to treat this condition. The objective of this review is to determine whether there is evidence to suggest one form of treatment is more effective than the other. Does it depend on definition? Are some patients with convergence excess esotropia more effectively managed with optical correction and some with surgical correction? What are we trying to achieve with treatment and at what point do we concur that a treatment has been a success or failure? Does the method of bifocal management affect the outcome? Are some surgical strategies more effective than others? Convergence excess esotropia is a condition characterised by an esotropia which is greater for near fixation than for distance fixation. It was first described by Donders in 1864.1 Most consider that, …

Background: Amblyopia (lazy eye) affects the vision of approximately 2% of all children. Traditional treatment consists of wearing a patch over their ‘good’ eye for a number of hours daily, over several months. This treatment is unpopular and compliance is often low. Therefore results can be poor. A novel binocular treatment which uses 3D technology to present specially developed computer games and video footage (I-BiT™) has been studied in a small group of patients and has shown positive results over a short period of time. The system is therefore now being examined in a randomised clinical trial. Methods/design: Seventy-five patients aged between 4 and 8 years with a diagnosis of amblyopia will be randomised to one of three treatments with a ratio of 1:1:1 - I-BiT™ game, non-I-BiT™ game, and I-BiT™ DVD. They will be treated for 30 minutes once weekly for 6 weeks. Their visual acuity will be assessed independently at baseline, mid-treatment (week 3), at the end of treatment (week 6) and 4 weeks after completing treatment (week 10). The primary endpoint will be the change in visual acuity from baseline to the end of treatment. Secondary endpoints will be additional visual acuity measures, patient acceptability, compliance and the incidence of adverse events. Discussion: This is the first randomised controlled trial using the I-BiT™ system. The results will determine if the I-BiT™ system is effective in the treatment of amblyopia and will also determine the optimal treatment for future development. Trial registration: ClinicalTrials.gov identifier: NCT01702727 Keywords: Amblyopia, I-BiT™, Randomised clinical trial, Lazy eye, Child, Visual acuity, Binocular

A seven-month-old boy with infantile Gaucher disease presented because of neurological regression and apparent visual deterioration. Formal eye movement studies showed a total horizontal and vertical saccade palsy and a supranuclear downgaze pursuit palsy with intact horizontal and vertical oculocephalic responses. The presence of a functional sensory visual pathway was indicated by the presence of flash ERGs and pattern reversal evoked potentials.

Background/aims: To evaluate a new autorefractor, the Plusoptix Vision Screener (PVS), as a screening tool to detect risk factors for amblyopia by comparing it with gold-standard orthoptic vision screening in children. Methods: Community-based screening study including 288 children age 4–7 years who were screened with the PVS and by orthoptic assessment (distance acuity, cover test, extraocular movements, 20 PD prism test, Lang stereotest). Follow-up comprehensive eye examination of screening-positive children included manual cycloplegic retinoscopy. Results: Testability was high for both methods. Orthoptic screening identified 36 children with reduced vision and/or factors associated with amblyopia (referral rate 12.5%). The PVS identified 16 children with potential vision problems (referral rate 5.6%), indicating only moderate sensitivity (44%; 95% CI 27.9 to 61.9%), but high specificity (100%; 95% CI 98.5 to 100%) to detect factors associated with amblyopia. The PVS underestimated visually significant refractive errors. Conclusions: Use of the PVS as single screening test in young children may miss a significant number of children with amblyopia or amblyogenic risk factors.

Background: The Plusoptix Vision Screener (PVS) is a new non-cycloplegic videoretinoscopy autorefractor. Refractive accuracy may affect its performance as a screening tool. Aims: Study 1: To determine the intra- and interobserver variability of PVS measurements. Study 2: To compare PVS measurements with gold-standard manual cycloplegic retinoscopy (MCR). Methods: Study 1: PVS refraction of 103 children with mean (SD) age 5.5 (0.6) years by two observers. Study 2: PVS and MCR refraction of 126 children with mean (SD) age 5.5 (1.5) years, including 43 children with manifest strabismus ⩾5 PD, comparing mean spherical equivalent (MSE) and Jackson cross cylinders J0 and J45. Results: Study 1: Repeatability coefficients (observer 1): MSE: 0.63 D, J0: 0.24 D, J45: 0.18 D; those of observer 2 were nearly identical. The mean difference (95% limits of agreement) between the two observers for MSE, J0 and J45 were, respectively, 0.03 (−0.62 to 0.68 D), −0.008 (−0.25 to 0.23 D) and 0.013 (−0.18 to 0.20) D. Study 2: MSE tended to be lower on PVS than MCR, with differences of up to 8.00 D. Less than 20% of values were within ±0.50 D of each other. Agreement was better for J0 and J45. Strabismus was associated with an odds ratio of 3.7 (95% CI 1.3 to 10.5) of the PVS failing to obtain a reading. Conclusions: The PVS may underestimate children’s refractive error.

The effectiveness of complex strabismus surgery is often limited by the development of fibrosis postoperatively. The use of mitomycin C to reduce fibrosis in strabismus surgery has been reported, but the use of amniotic membrane has not. We describe a technique which uses both mitomycin C and amniotic membrane patches to reduce fibrosis. We describe this technique for two patients with complex strabismus who were treated with this technique.

A 13-year-old girl developed bilateral chronic anterior uveitis following bacille Calmette–Guérin (BCG) vaccination. HLA testing was negative for B27 but positive for DRB1*0404, a variant of DR4 often associated with rheumatoid arthritis. The authors propose her HLA repertoire allowed for a BCG-induced abnormal autoimmune response by the mechanism of molecular mimicry.

An eight-year-old girl with bilateral facial paresis and restricted eye movements was diagnosed with Moebius syndrome. A chromosomal analysis showed a paracentric inversion on the long arm of chromosome 8 (46, XX, inv(8) (q21.3q24.13)). Candidate genes have been found on chromosomes 3q21, 10q21, and 13q12. We discuss the genes which are known to have associated ocular movement dysfunction in the 8q21-24 region. We hope this case will add to the current body of knowledge regarding Moebius syndrome and its genetics.

Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. Here we provide a detailed description of the clinical features associated with SOX2 mutations in the five individuals with reported mutations and four newly identified cases (including the first reported SOX2 missense mutation). The SOX2-associated ocular malformations are variable in type, but most often bilateral and severe. Of the nine patients, six had bilateral anophthalmia and two had anophthalmia with contralateral microphthalmia with sclerocornea. The remaining case had anophthalmia with contralateral microphthalmia, posterior cortical cataract and a dysplastic optic disc, and was the only patient to have measurable visual acuity. The relatively consistent extraocular phenotype observed includes: learning disability, seizures, brain malformation, specific motor abnormalities, male genital tract malformations, mild facial dysmorphism, and postnatal growth failure. Identifying SOX2 mutations from large cohorts of patients with structural eye defects has delineated a new, clinically-recognizable, multisystem disorder and has provided important insight into the developmental pathways critical for morphogenesis of the eye, brain, and male genital tract.

Sir, The Tutoplast process is a scientific method of virally inactivating, preserving, and sterilising human tissue, which can be safely used as an allograft. The Tutoplast pericardium patch graft (Innovative Ophthalmic Products, Inc., Costa Mesa, CA, USA), supplied by IOP Ophthalmics in the United Kingdom, is comprised of low-profile collagen with a multi-directional matrix for superior surgical handling and suture utility. The literature describes successful Tutoplast pericardium utilisation in the management of Peyronie's disease,1 as a patch graft in glaucoma, and corneal surgery,2, 3 to cover exposed scleral buckles4 and oculoplastic surgery.5 We report the novel use of this material for cosmetically unacceptable scleral translucency following strabismus surgery.

Objectives: (1) To measure the force required to perforate the globe with various retrobulbar needles. (2) To determine the effects of angle of penetration on the force required to penetrate the globe. (3) To compare the force required to penetrate the globe with the force required to penetrate the skin. Study Design: Cadaver eyes were perforated with ultra-sharp, blunt disposable and reusable retrobulbar needles. The force required for each perforation was measured using a Pioden UF1 solid state load transducer. Setting: A laboratory based study. Results: Compared with a sharp needle, twice the force is required to penetrate the globe with a blunt disposable needle, and four times the force with a reusable needle. The angle of penetration does not affect the penetration force. The force required to penetrate the sclera is approximately three times that needed to penetrate the skin, irrespective of the needle used. Conclusion: The benefit of using a blunt retrobulbar needle to reduce the risk of scleral perforation during retrobulbar injections has not been confirmed. Because sharp retrobulbar needles are less traumatic and minimal resistance to its passage through the skin allows greater control, we favour their use.

Purpose To determine whether the first day review is essential in management of patients following uncomplicated phacoemulsification with intraocular lens implantation. Patients are routinely seen on the day following surgery. This can produce logistical problems in patient attendance that can necessitate an overnight stay. If the first day review were abandoned this would lead to an increased uptake of day case surgery and a reduction in health care costs. Methods A retrospective cohort study was performed on all cases of uncomplicated phacoemulsification with intraocular lens implant surgery over a 6 month period. Slit lamp examination findings on the first postoperative day were reviewed. Visual acuity, corneal clarity, anterior chamber activity, intraocular pressure and configuration of the pupil were recorded. Any cases that failed to meet predetermined criteria underwent full case-note review. The subsequent management of these patients was analysed. Results Of the 201 cases of uncomplicated surgery, 74 cases (37%) failed to meet the study criteria and underwent review. Of these only 12 (6%) had their management altered as a result of the first day post-operative findings. This was entirely due to raised intraocular pressure. Visual acuity, corneal oedema and activity in the anterior chamber all improved on subsequent follow-up. Conclusions The first day review of uncomplicated phacoemulsification with lens implant surgery provides the opportunity to treat raised intraocular pressure. A prospective randomised study is needed to identify means to prevent the post-operative intraocular pressure rise before we are able to consider abandoning the first review.

Trisomy 8 mosaicism can present with a varied clinical picture. A significant number of cases have ocular manifestations. The most commonly reported in the literature have been corneal abnormalities and strabismus. We present a case of trisomy 8 mosaic syndrome with very different ophthalmic manifestations, some of which are previously unreported in the literature. The patient who was known to have trisomy 8 mosaic syndrome was referred with concerns about his visual abilities. He had a characteristic facial dysmorphism and other systemic features associated with this condition. Ophthalmic features included bilateral Duane's syndrome, bilateral myopic astigmatism, congenital pendular nystagmus, and macula hypoplasia. Electrodiagnostic tests confirmed extensive abnormality of cone function in both eyes. This case is discussed in relation to a review of the literature.

Dear Editor, We wish to report the occurrence of distichiasis in a patient with van der Woude syndrome (VWS). This is the most common syndromic form of cleft lip and palate (CLP); its most characte...

Posterior lenticonus tends to be unilateral and there is no evidence that this is a familial condition. We report three cases of bilateral posterior lenticonus in boys. The mothers of all three cases had posterior lenticular changes, less severe than their sons. We suggest that bilateral posterior lenticonus may be inherited in an X-linked fashion.

Retinal toxicity attributable to intravitreal use of aminoglycosides for endophthalmitis has been reported. Campochiaro and Conway reported 101 cases of retinal damage due to intravitreal aminoglycosides.1 Amikacin, an aminoglycoside, is in widespread use in the United Kingdom for the treatment of Gram negative organisms in endophthalmitis. We report a case of macular toxicity following the use of intravitreal amikacin for postoperative endophthalmitis, outline mechanisms of retinal toxicity, and offer alternatives to amikacin. We believe that enough evidence now exists to support a change in the current Royal College of Ophthalmologists' endophthalmitis treatment guidelines that are based on the Endophthalmitis Vitrectomy Study.2 A 69 year old white woman presented 1 day after uneventful right phacoemulsification and intraocular lens implantation with a vision of …

We thank Doft et al for their useful and expert opinion.1 The choice of which agent to use to empirically treat Gram negative organisms implicated in endophthalmitis remains controversial. As amikacin has been proved to cause macular infarction, we think one should look at viable alternatives. Ceftazidime is already in widespread use in the United Kingdom and appears not …