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Clarke’s article gives some fascinating insights into the creation and functioning of the Independent Scientific Advisory Group for Emergencies (Independent SAGE).1 The only sensible …

Background: Bilateral cataract is a significant cause of blindness in Ethiopia. This study aimed to identify the resources available for cataract surgery in children, and to assess current surgical practices, surgical output and factors affecting the outcome of surgery in Ethiopia. Methods: A Google Forms mobile phone questionnaire was emailed to nine ophthalmologists known to perform cataract surgery in young children.Results: All nine responded. All but one had received either 12- or 3-5-month’s training in pediatric ophthalmology with hands-on surgical training. The other surgeon had received informal training from an experienced colleague and visiting ophthalmologists. Five worked in the capital, Addis Ababa, and they worked in six public referral hospitals and one private center. Over 12 months (2017-2018) 508 children underwent surgery; 84 (17%) children had bilateral and 424 (83%) had unilateral cataract, mainly following trauma (mean 66 (range 18-145 standard deviation (SD) ±47) eyes/surgeon). There were substantially fewer surgeons per million population (nine for 115 million population) than recommended by the World Health Organization and they were unevenly distributed across the country.Methylcellulose and rigid intraocular lenses were generally available but less than 50% of facilities had a sharp vitrectomy cutter and cohesive viscoelastic. Mean travel time outside Addis Ababa to a facility offering pediatric cataract surgery was 10 hours. Conclusion: Despite the high number of cases per surgeon, the output for bilateral cataracts was far lower than required. More well-equipped ophthalmologists trained in pediatric cataract surgery are urgently required, with deployment to under-served areas.

AimTo assess visual acuity outcomes, and factors associated with the outcome, of paediatric cataract surgery at the Child Eye Health Tertiary Facility, Gondar, Northwest Ethiopia.MethodsThe medical records of children aged below 16 years who underwent cataract surgery between September 2010 and August 2014 were reviewed for preoperative, surgical and postoperative data.ResultsOne hundred and seventy-six eyes of 142 children (mean age 7.9 years±4.2 SD, 66% male) who had cataract surgery were included. Twenty-five per cent (35/142) of children had bilateral cataract, 18 (13%) had unilateral non-traumatic cataracts and 89 (63%) had unilateral traumatic cataracts. An intraocular lens was implanted in 93% of eyes. Visual acuities at last follow-up: bilateral cases in the better eye: good (≥6/18 or fix and follow) in 21/34 eyes (62%), borderline (ConclusionsVisual acuity improved significantly after surgery, with better outcomes in bilateral cases. Early detection and surgery by a trained surgeon with good follow-up and postoperative rehabilitation can lead to better visual outcomes.

Purpose A key issue in managing children with cataract is to determine whether the eye is of normal axial length for the age of the child. This is important in both prognostication and selection of an appropriate intraocular lens in congenital cataract cases. The aim of this study was to assess the axial lengths recorded for the apparently normal eyes in patients with unilateral congenital cataracts. Methods The notes of all patients who had undergone cataract surgery in the last 5 years for unilateral congenital cataract were analyzed and the preoperative data were obtained. Only the contralateral noncataractous eyes with long-term normal visual development and refractive error were included. Results Twenty eyes were measured in this period. The extrapolated mean axial length at birth was 16.8 mm, with a rapid initial axial growth, with a mean axial length of 20 mm at 12 months of age and 21 mm at age 4 years. Conclusions Axial length changes rapidly in the first 18 months of life. The normal data found here at different ages may assist in interpreting perioperative measurements in such children.

OBJECTIVES: To determine the causes of severe visual impairment and blindness (SVI/BL) among students in schools for the blind in Northwest Ethiopia and to identify preventable and treatable causes. METHOD: Students attending nine schools for the blind in Northwest Ethiopia were examined and causes assigned using the standard WHO record form for children with blindness and low vision in May and June 2015. RESULTS: 383 students were examined, 357 (93%) of whom were severely visually impaired or blind (

Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene FRMD7 (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye movement recordings of 90 subjects with mutation in the gene ( FRMD7 group) to 48 subjects without mutations but with clinical IIN (non- FRMD7 group). Fifty-eight female obligate carriers of the mutation were also investigated. The median visual acuity (VA) was 0.2 logMAR (Snellen equivalent 6/9) in both groups and most patients had good stereopsis. The prevalence of strabismus was also similar ( FRMD7 : 7.8%, non- FRMD7 : 10%). The presence of anomalous head posture (AHP) was significantly higher in the non- FRMD7 group ( P < 0.0001). The amplitude of nystagmus was more strongly dependant on the direction of gaze in the FRMD7 group being lower at primary position ( P < 0.0001), compared to non- FRMD7 group ( P = 0.83). Pendular nystagmus waveforms were also more frequent in the FRMD7 group ( P = 0.003). Fifty-three percent of the obligate female carriers of an FRMD7 mutation were clinically affected. The VA's in affected females were slightly better compared to affected males ( P = 0.014). Subnormal optokinetic responses were found in a subgroup of obligate unaffected carriers, which may be interpreted as a sub-clinical manifestation. FRMD7 is a major cause of X-linked IIN. Most clinical and eye movement characteristics were similar in the FRMD7 group and non- FRMD7 group with most patients having good VA and stereopsis and low incidence of strabismus. Fewer patients in the FRMD7 group had AHPs, their amplitude of nystagmus being lower in primary position. Our findings are helpful in the clinical identification of IIN and genetic counselling of nystagmus patients.

Background: The aim of this study was to assess the incidence and outcome of severe retinopathy of prematurity (ROP) among different ethnic groups in a geographically defined population in the U.K. Severe ROP was defined as any stage 3 or worse disease. Methods: This was a retrospective study of children born over a 6-year period with a birth weight of 1250 g or less. Threshold ROP was treated with diode laser. Results: Severe disease developed in 37 out of 355 neonates (10.4%) who underwent ROP screening. The difference in the incidence of severe ROP between infants of Caucasian and South Asian ethnic origin was not statistically significant: 10.2% vs. 10.8% (odds ratio=1.06; 95% confidence interval: 0.44 to 2.57). This conclusion held after single-variable adjustment for birth weight, gestational age, and score on the Clinical Risk Index for Babies. The incidence of threshold ROP was 3% among infants of both Caucasian and South Asian ethnic origin. There was no significant difference in terms of visual outcome between the Caucasian and South Asian infants. Interpretation: This study showed no statistical evidence for a difference in the incidence or outcome of severe ROP among infants of South Asian ethnic origin compared with those of Caucasian origin. Although the small numbers in our study mean that a clinically important difference cannot be excluded, it is very unlikely that the 5-fold higher incidence in Asian babies described in the literature is correct for the population from which our subjects were drawn.

A child suspected of having an abusive head trauma (AHT) is referred by paediatricians to an ophthalmologist for evaluation. The incidence of abusive head injury in children is highest in infancy and less frequently seen in children over 3 years of age. Retinal haemorrhages (RHs) have a high positive predictive rate for abusive head injury. In the presence of head injury without any plausible medical explanation the description of the retinal findings help in distinguishing between abusive injury and other causes. It is incumbent on the ophthalmologist to be familiar with the clinical presentation, the differential diagnosis, and controversies associated with attributing the presence or absence of retinal findings to abusive head injury in children. The guidance was developed by a guideline working party (GWP) from the Royal College of Ophthalmologists (RCO) and the Royal College of Paediatrics and Child Health (RCPCH). It brings together previous publications of the RCO1, 2, 3 and an update of the literature since these publications. The publication is a summary of the updates of the full version of the document, with its appendices available on the websites of the RCO (www.rcophth.ac.uk) and the RCPCH (www.rcpch.ac.uk).

Objective. To examine trends in the incidence of severe (≥grade 3) retinopathy of prematurity (ROP) in infants with birth weight of ≤1250 g in a geographically defined population over a 10-year period.Methods. An observational study was conducted of all infants who had a birth weight ≤1250 g and were born to mothers who were resident in the county of Leicestershire, United Kingdom, during the period January 1, 1990, to December 30, 1999. Cases were identified by the Trent Neonatal Survey. The incidence of severe ROP (≥grade 3) was compared in 2 successive 5-year periods: 1990–1994 and 1995–1999.Results. Comparing the first 5-year period (1990–1994) with the second (1995–1999), the total number of live births fell (60 789 vs 56 564). However, there was a significant increase in the number of births with birth weight ≤1250 g (including live and dead; 615 vs 734; live births only: 455 vs 556). Survival to 42 weeks of infants who were born at ≤1250 g was significantly better in the latter time period (203 vs 302; odds ratio [OR] for death: 0.54; 95% confidence interval [CI]: 0.39–0.75). The number of cases of severe ROP was 4 times higher during the second time period compared with the first (9 vs 36). A significantly increased risk for the development of severe ROP was seen during the second time period (OR: 2.92; 95% CI: 1.37–6.20). Even after allowing for the change in gestation induced by the improved survival during the second time period, the increased risk remained (OR: 2.81; 95% CI: 1.27–6.21).Conclusions. There is strong evidence that the incidence of severe ROP among infants with birth weight ≤1250 g increased in the latter half of the last decade. The increased risk seems to be independent of the increase in survival.

Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Autosomal dominant FEVR is genetically heterogeneous, but its principal locus, EVR1, is on chromosome 11q13-q23. The gene encoding the Wnt receptor frizzled-4 (FZD4) was recently reported to be the EVR1 gene, but our mutation screen revealed fewer patients harboring mutations than expected. Here, we describe mutations in a second gene at the EVR1 locus, low-density-lipoprotein receptor–related protein 5 (LRP5), a Wnt coreceptor. This finding further underlines the significance of Wnt signaling in the vascularization of the eye and highlights the potential dangers of using multiple families to refine genetic intervals in gene-identification studies.

Four children are presented and their eye malformations described. One girl had bilateral anophthalmos, a boy and a girl had bilateral severe microphthalmos, and a boy had a unilateral optic disc coloboma. The mothers of all for children were treated with carbamazepine during pregnancy. The teratogenic effect of carbamazepine and its likely role in the genesis of the eye malformations is discussed.

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability. Nat Genet

STUDY OBJECTIVE--To investigate the relationship between age at presentation of amblyopia and social deprivation before and after the introduction of changes to a vision screening service. DESIGN--Two cohorts of children treated for amblyopia in 1983 and 1992. SETTING--THe orthoptic department of Leicester Royal Infirmary. PARTICIPANTS--The 209 patients treated for amblyopia who first attended the orthoptic department in 1983, and 203 who first attended in 1992. MEASUREMENTS--Age at presentation to the orthoptic department was the main outcome measure. Social deprivation was measured by Townsend deprivation score for the electoral ward in which the child lived, using 1981 and 1991 census data. MAIN RESULTS--After the introduction of changes in the screening programme, the mean at presentation of amblyopia associated with microtropia or no strabismus was reduced from 6.6 years to 5.0 years. In 1983 there was a significant relationship between deprivation and age at presentation (p = 0.0001), with those from more deprived areas presenting later. No similar association was found in children referred in 1992 (p = 0.17). There was no change in mean age of presentation of amblyopia associated with a large angle of strabismus (3.3 years in 1983 and 1992) and no relationship between deprivation and age at presentation 1983 or 1992 (p = 0.24 and p = 0.39 respectively). CONCLUSION--Since the introduction of changes to vision screening, the relationship between social deprivation and the age of presentation of asymptomatic amblyopia seems to have disappeared. Children are now referred earlier and those from deprived areas are not being overlooked.

To analyse the incidence of glaucoma in children undergoing cataract surgery and determine whether early surgery is associated with increased risk of glaucoma.A retrospective chart review of all children aged 14 years or less who had surgery for congenital or developmental cataract at one unit over the last 20 years. The children were divided into three groups; group 1 consisting of children agedor =50 days at surgery, group 2 those aged 51 days to 1 year, and group 3 aged 1-14 years.We identified a total of 104 eyes of 74 children. The medical records for 100 eyes (71 children) were available for review. In all, 17 eyes (12 children) were agedor =50 days at surgery, none of which have developed glaucoma. Group 2 consisted of 28 eyes (17 children) with one patient developing glaucoma in both eyes 11 years after surgery. Group 3 consisted of 55 eyes (42 children), none of which have developed glaucoma. After a median follow-up period of 4.9 years (range 0.6-19.6 years, mean 6.4 +/- 5.2 years) 2% of eyes had developed glaucoma. There was no significant difference in the length of follow-up between groups (H=2.979, P=0.22, Kruskal-Wallis Test).There was a low incidence of glaucoma in our series and this was not increased in those having surgery in the first 6 weeks of life. Our findings contribute further evidence for the variability in prevalence of glaucoma after paediatric cataract extraction in the literature and suggest that factors other than age at surgery are important risk factors for this condition.

The results of a long term follow up of all patients from a single health district started on occlusion for amblyopia in 1983 are reported. Three hundred and sixty-eight patients started treatment, their average age was four years seven months, the average amount of daily occlusion was 1.5 hours and the average length of follow up was 31 months. 37% of cases achieved a final visual acuity of 6/9 or better and another 33% a visual acuity of 6/12 or 6/18. 23% did not achieve 6/18 and treatment of these patients was regarded as failure. Data for the remainder (7%) were incomplete. The success rate of occlusion treatment varied little with the age of starting treatment. The group with combined strabismus and anisometropia responded least well to treatment.

PURPOSE Nystagmus, which can be infantile (congenital) or acquired, affects all ages. The prevalence of nystagmus in the general population is unknown. New genetic research and therapeutic modalities are emerging. Previous estimates have been based on wider ophthalmic epidemiologic studies within specific occupational or age groups. The authors carried out the first epidemiologic study to specifically establish the prevalence of nystagmus in Leicestershire and Rutland in the United Kingdom. METHODS Three independent data sources identified persons with nystagmus from the hospital and community. The first was a hospital-based questionnaire and clinical survey (n = 238). The visually impaired services (n = 414) and education services (n = 193) in Leicestershire provided the second and third separately obtained community-based sources of information. Capture-recapture statistical analysis was used to estimate prevalence. RESULTS The prevalence of nystagmus in the general population was estimated to be 24.0 per 10,000 population (95% confidence interval [CI], +/-5.3). The most common forms of nystagmus were neurologic nystagmus (6.8 per 10,000 population; 95% CI, +/-4.6), nystagmus associated with low vision such as congenital cataracts (4.2 per 10,000; 95% CI, +/-1.2), and nystagmus associated with retinal diseases such as achromatopsia (3.4 per 10,000 population; 95% CI, +/-2.1). Within ethnic groups, nystagmus was significantly more common in the white European population than in the Asian (Indian, Pakistani, other Asian backgrounds) population (P = 0.004). CONCLUSIONS The findings suggest that nystagmus is more common in the general population than previously thought. This may be of significance in resource allocation and health care planning.

We present incidence estimates for amblyopia using data from a study of a cohort of 364 children from a single English county who were referred during 1983 for occlusion therapy. Using a criterion of a visual acuity of 6/12 or worse to define amblyopia, we estimate that 3.0% of the county's children develop the condition. Successful treatment of some of these children means that 1.9% will remain amblyopic as adults.

Purpose Dacryocystorhinostomy (DCR) is the standard surgical treatment for adult nasolacrimal duct obstruction. There have been relatively few studies of closed nasolacrimal duct intubation in adults. The aim of this study was to determine rates of anatomic patency following this procedure. Methods The authors carried out a survey of all patients undergoing closed nasolacrimal duct intubation as a primary procedure over a period of 3 years and 4 months. There were 32 eligible patients of whom 20 attended for review. Results A total of 75% of these cases had patent drainage after follow-up of between 6 months and 3 years. The proportion of patients with persistent patency after intubation was the same regardless of length of follow-up. Conclusions The minimally invasive procedure of lacrimal intubation may have a role in some adults with nasolacrimal duct obstruction.

The morphologically distinct diabetic or 'metabolic' cataract is rare in newly diagnosed insulin dependent diabetes. The cases described are of five adolescents (three girls, two boys) with newly diagnosed insulin dependent diabetes who developed metabolic cataracts close to the time of diagnosis (0-16 months). They all had a prolonged duration of symptoms before diagnosis (4-24 months) and high glycated haemoglobin levels at diagnosis (15-21%). The pathogenesis of diabetic cataract is not well understood in humans. An attempt is made to link clinical observations with evidence from experimental animal models to understand the mechanism of cataract formation, with particular reference to the aldose reductase pathway. It is recommended that the lens and retina are examined at the onset of diabetes in all children, especially those who have a prolonged duration of symptoms before diagnosis and who report persistent blurred vision.

Mosaic trisomy 22 is rare, but can be compatible with prolonged life. Patients with mosaic trisomy 22 usually present with intrauterine growth retardation, mental retardation, failure to thrive, and craniofacial asymmetry. We report the case of a five-year-old boy who had a birth weight of 3.8 kg and normal developmental milestones. He presented with unilateral ocular manifestations of ptosis, double elevator palsy, high myopia, and choroidal coloboma involving the macula. Cytogenetic evaluation showed a low level of trisomy 22 in peripheral blood lymphocytes (1 in 100) and in cultured fibroblasts from a conjunctival biopsy of the affected eye (1 in 60). Our case demonstrates the value of chromosomal analysis of the tissues involved rather than just karyotyping of the blood lymphocytes to detect mosaicism in patients with localised and unilateral congenital malformations.

The intense illumination of the operating microscope has been implicated in photic retinopathy in patients and in animal studies. We report a case of bilateral macular phototoxicity occurring in an eleven-year-old child who underwent bilateral cataract surgery for radiation cataracts. We are unaware of other reports of retinal toxicity occurring during pediatric cataract surgery. We hypothesize that this child may have been predisposed to macular injury because of previous chemotherapy and radiotherapy exposure. Ophthalmic surgeons should be aware that light toxicity from the operating microscope might also occur in the pediatric population.

Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous inherited blinding disorder of the retinal vascular system. To date three loci have been mapped: EVR1 on chromosome 11q, EVR2 on chromosome Xp, and EVR3 on chromosome 11p. The gene underlying EVR3 remains unidentified whilst the EVR2 gene, which encodes the Norrie disease protein (NDP), was identified over a decade ago. More recently, FZD4, the gene that encodes the Wnt receptor Frizzled-4, was identified as the mutated gene at the EVR1 locus. The purpose of this study was to screen FZD4 in a large family previously proven to be linked to the EVR1 locus.PCR products were generated using genomic DNA from affected family members with primers designed to amplify the coding sequence of FZD4. The PCR products were screened for mutations by direct sequencing. Genotyping was performed in all available family members using fluorescently labeled microsatellite markers from chromosome 11q.Sequencing of the EVR1 gene, FZD4, in this family identified no mutation. To investigate this family further we performed high-resolution genotyping with markers spanning chromosome 11q. Haplotype analysis excluded FZD4 as the mutated gene in this family and identified a candidate region approximately 10 cM centromeric to EVR1. This new FEVR locus is flanked by markers D11S1368 (centromeric) and D11S937 (telomeric) and spans approximately 15 cM.High-resolution genotyping and haplotype analysis excluded FZD4 as the defective gene in a family previously linked to the EVR1 locus. The results indicate that the gene mutated in this family lies centromeric to the EVR1 gene, FZD4, and is also genetically distinct from the EVR3 locus. This new locus has been designated EVR4 and is the fourth FEVR locus to be described.

Aims Inheritance is recognised to have a part in the aetiology of strabismus but previous studies have not adequately distinguished between different types of strabismus leading to wide variations in reported findings. The aim of this study was to investigate the importance of heredity in different types of strabismus. Methods The parents of children attending for treatment of strabismus over a one-month period were interviewed to identify relatives with a history of strabismus. A complete three-generation pedigree was established for 96 index cases who were classified into four groups: infantile esotropia (26 cases), accommodative esotropia (49 cases), anisometropic esotropia (15 cases), and exotropia (six cases). Results Forty-three of a total of 165 (26.1%) first degree relatives of patients with hypermetropic accommodative esotropia were affected. In contrast, 15 of a total of 101 (14.9%) first degree relatives of patients with infantile esotropia, eight of a total of 66 (12.1%) first degree relatives of patients with anisometropic esotropia, and one of a total of 25 (4%) first degree relatives of patients with exotropia were affected. Analysing the data using logistic regression with a random term for family showed a significantly higher proportion of affected first degree relatives in the accommodative group than in any of the other three diagnostic groups. Conclusion A history of strabismus appears to be more common in hypermetropic accommodative esotropia than in infantile esotropia, anisometropic esotropia or exotropia. More detailed investigation of the role of heredity in the aetiology of accommodative esotropia is needed.

Pseudomonas aeruginosa eye infection, although uncommon, may be a devastating disease if not recognised and treated appropriately, especially in premature infants. The case is presented of a premature baby who lost her right eye from invasive exogenous Ps aeruginosa eye infection.

Purpose: To investigate the role of cross polarized spectacles in the treatment of photosensitivity demonstrable by EEG. Method: Patients receiving an EEG who tested positive for photosensitivity were invited to participate in the study. The most sensitive light flicker frequency causing a photic response was determined for each patient. Stimulation was repeated with 2 different pairs of spectacles-1 conventionally polarized and the other cross polarized. An EEG was obtained in each case and reported by a neurophysiologist who was unaware of the identity of the 2 types of spectacles. Results: We tested 19 patients, 8 to 18 years of age. Two patients did not benefit from either pair of glasses. In 17 patients, the photic response was greatly diminished or eliminated by polarizing spectacles. In 1 patient, conventional polarized glasses helped, but the cross polarized spectacles did not. In 6 patients, both types of spectacles were equally effective; in 10 patients, cross polarized spectacles were more effective than conventionally polarized spectacles. Conclusion: The role of cross polarized spectacles in the management of photosensitivity in a clinical situation merits further investigation. Journal of Pediatric Ophthalmology and Strabismus 2001;38:331-334.

BACKGROUND—There is controversy over whether improved survival of preterm infants has resulted in a higher incidence of severe (grade 3 or greater) retinopathy of prematurity (ROP). AIM—To compare survival rates and rates of ⩾ stage 3 ROP—that is, with a high risk of sequelae—in preterm infants in five English cities where, anecdotally, the incidence of ROP is reported to show considerable variation. METHODS—All infants of birth weight < 1500 g and or gestational age < 32 weeks, born in 1994 in one of the cities or transferred in within 48 hours, were studied. The populations were adjusted for case mix variation using CRIB (clinical risk index for babies, a disease severity scoring system). The incidence of severe ROP, the actual death rate, and that adjusted for disease severity were determined. RESULTS—The rate of severe ROP per 1000 births was higher in city 1 than in all the other cities. This increase in comparison with city 2 and city 4 was significant (city 1, 167 (95% confidence interval (CI) 96 to 260); city 2, 24 (6 to 59); city 4, 16 (1to 84)). A significant difference was not seen between city 1and cities 3 (23 (1 to 120)) and 5 (74 (21 to 79)). The relative risk of developing severe ROP in city 1 compared with all the other cities was 5.5 (2.5 to 11.9). The actual death rate per 1000 births in city 1 was significantly lower than that predicted by modelling death against CRIB score (city 1: actual 270; predicted 385 (95% CI 339 to 431)). In contrast, the other cities had actual death rates as predicted, or worse than predicted, by CRIB. INTERPRETATION—A significantly higher incidence of severe ROP was identified in one of the five cities studied. Variation in survival rates among high risk infants may explain this observation.

Familial exudative vitreoretinopathy (FEVR) is a disorder characterised by peripheral retinal vascularisation with subsequent traction of retinal vessels and detachment. Recently, autosomal dominant FEVR (ad FEVR) has been mapped to 11q13 by linkage in four northern European families. We describe a large consanguineous Asian family in which the severity of the proband's eye disease suggested homozygosity for a disease allele. Thirty family members were assessed by ophthalmological examination and fluorescein angiography. Thirteen had unequivocal features of FEVR. A further two were classified as unknown. Two point linkage analysis for DIIS533 and FEVR generated a lod score of 5.55 at a recombination fraction of 0.00. This supports autosomal dominant inheritance and demonstrates genetic homogeneity for the ad FEVR disease locus. The severely affected proband was heterozygous for alleles at this closely linked locus. Other causes, including non-genetic factors, should be considered to explain the extreme variability characteristic of ad FEVR.

Purpose To report a case of bilateral cataracts in a child that led to diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Design Observational case report. Methods A 12-year-old boy was being investigated for weakness, lethargy, short stature, and blurred vision. He developed bilateral, dense cataracts over a 2-week period. He was found to be hypocalcemic and diagnosed with hypoparathyroidism and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Results Because of hypoparathyroidism, adrenocortical failure, and insulin-dependent diabetes, it was 9 months before the patient’s metabolic imbalance was brought under sufficient control to allow cataract surgery. Conclusion Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy should be considered with diagnoses of hypocalcemic cataract.

Background Amblyopia is the most common visual disability in children. Early treatment is thought to be more effective, and therefore factors affecting the age at presentation are important. A relationship between social deprivation and access to health care and screening services is well known. We hypothesized that social deprivation might be associated with later presentation of amblyopia, particularly of anisometropic amblyopia which depends on vision screening for referral. Methods Data from a historical cohort of 897 children with amblyopia, from seven UK orthoptic clinics, were used to test this hypothesis. Social deprivation was measured by the Townsend score of the ward in which the child lived. Results A relationship between social deprivation and age at presentation was found in children with anisometropic amblyopia even after adjusting for differences between clinics (p = 0.01) but no similar association was evident in children with amblyopia associated with strabismus. There was a difference of 22 months in the average age at presentation between children with anisometropic amblyopia in the most deprived and least deprived areas of the study. Conclusions If screening for anisometropic amblyopia is to be undertaken, priority should be given to screening children from areas of social deprivation.

SUMMARY The outcome of treatment for amblyopia and the factors that affect this are not well understood. A major reason for this has been the exclusion from previous large studies of a sometimes unknown number of patients because of failure to comply with treatment. This paper analyses the outcome of amblyopia treatment in a retrospective review of the orthoptic records of a cohort of 961 children treated for amblyopia at seven centres who first attended in 1983. The final visual acuity was recorded by Snellen or matching methods in 894 children (93 %). Of these, 48 % achieved 6/9 or better, 3S % less than 6/9 but better than or equal to 6/18, and 17 % achieved less than 6/18. The outcome was best for pure anisometropic amblyopia, intermediate for pure strabismic amblyopia and least good for mixed strabismic and anisometropic amblyopia with a final visual acuity of 6/10.2, 6/12.8 and 6/14.8 respectively . While the age at start of treatment did not correlate with final visual acuity both poor initial visual acuity and poor compliance were associated with poor outcome. The main factor affecting the outcome of amblyopia treatment is the initial visual acuity . Compari­ son with the literature suggests that the results of treat­ ment in this country may be falling far short of what would be possible in ideal circumstances with unlimited resources. There is a wide range in the reported results of treatments of amblyopia with success rates ranging from 30% to 92%.1,2 Reasons for this include the selection of patients and the exclusion from some studies of those not com­ pleting treatment. 3 There have been few studies with large numbers of patients which include information on chil­ dren who do not complete treatment and there have been no multicentre studies. This paper analyses factors associ­ ated with the outcome of amblyopia treatment in a multi­ centre study of 961 children treated for amblyopia and followed for up to 10 years.

This study reports the presentation of 961 children who underwent amblyopia treatment at seven orthoptic centres in the United Kingdom. We confirmed previous authors' findings of a small but significant increased incidence of left-sided compared with right-sided amblyopia overall. For pure anisometropic amblyopia this difference was very marked and a possible pathophysiological mechanism is proposed. The mean age of presentation for anismetropic, strabismic and mixed amblyopia was 5.6, 3.3 and 4.4 years, respectively. Neither sex nor race affected the age of presentation. Despite their older age, children with pure anisometropic amblyopia had the best initial visual acuity, with 25% of anisometropes having an initial visual acuity of less than 6/18 compared with 39% of strabismics and 50% of mixed amblyopes. The ages and initial acuities of the strabismic patients in this series are at least as favourable as those of patients reported from outside the UK. There were variations in the age and proportion of patients presenting with anisometropic amblyopia at the different centres, suggesting a failure in the referral of anisometropic amblyopia of importance in interpreting epidemiological studies.

Nat. Genet. 38, 1242–1244 (2006); published online 1 October 2006; corrected after print 6 June 2011 In the version of this article initially published, the author Andrew Bastawrous was omitted from the author list. The error has been corrected in the HTML and PDF versions of the article.

Purpose To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic features of this condition. Design Retrospective, observational case series. Methods A multicenter study of 17 patients with molecularly confirmed Pierson syndrome. The eye findings were reviewed and compared to pertinent findings from the literature. Results The most characteristic ocular anomaly was microcoria. A wide range of additional abnormalities were found, including posterior embryotoxon, megalocornea, iris hypoplasia, cataract, abnormal lens shape, posterior lenticonus, persistent fetal vasculature, retinal detachment, variable axial lengths, and glaucoma. There was high interocular and intrafamilial variability. Conclusions Loss-of-function mutations in laminin β2 (LAMB2) cause a broad range of ocular pathology, emphasizing the importance of laminin β2 in eye development. Patients with Pierson syndrome can initially present with ocular signs alone. In newborns with marked bilateral microcoria, Pierson syndrome should be considered and renal function investigated.

As part of a clinical study of Alstrom syndrome (MIM 203800) we sequentially ascertained seven families. Four of the families, pedigrees A–D (table 1), were consanguineous. In total there were 16 living affected individuals, aged 3–25 years. All had cone rod dystrophy that presented in the first 3 months of life with photophobia and nystagmus. The cone rod dystrophy progressed and all were registered blind by the end of the first decade. By the middle of the first decade a characteristic appearance of sunken eyes and a prominent supra-orbital ridge had developed (fig 1A). Truncal obesity became apparent in the first few years of life and all exhibited acanthosis nigricans in their teenage years. None has yet developed symptomatic diabetes. All males of sufficient age failed to enter puberty without hormone support and thereafter developed a female fat distribution (fig 1B). Deafness developed in all cases by the end of the first decade, but varied in severity and symmetry within and between families. All affected individuals were of normal intelligence though they experienced educational difficulties because of their combined and progressive sensory deficits. In all seven families other diagnoses had been made prior to the final diagnosis of Alstrom syndrome, presumably because of the rarity of the condition and the sequential presentation of disease features.1,2 View this table: Table 1 Mutations in ALMS1 causing premature protein truncation in Alstrom syndrome patients exhibiting early onset cardiomyopathy Figure 1 Face and body habitus of a study patient with Alstrom syndrome. (A) The face showing the deep set eyes, a feature that develops in the first few years. (B) The body of a teenage affected male, showing obesity and a female pattern of fat distribution. (Photographs reproduced with permission.) In all seven families the index case had presented with symptoms …

Amblyopia is a common cause of visual loss affecting between 1 and 4% of the population.1 In most cases it is unilateral and is associated with either misalignment of the eyes (strabismus) or a difference in refraction between the two eyes (anisometropia). Treatment, which is effective only in childhood, consists of prescribing glasses when appropriate and occluding the good eye to force the child to use the amblyopic eye. There is no doubt that this treatment can be highly effective, and a recent prospective study reported cure—that is, visual acuity within one line of that in the unaffected eye—in 89% of patients.2 Despite this, amblyopia remains widely prevalent in adults. Why is this? How important a problem is it? And, what, if anything, needs to be done? Most people with amblyopia are barely aware of their disability since they rely on their good eye. Certainly their visual …

To characterize the phenotype of an autosomal dominant macular dystrophy and identify the chromosomal locus.Thirteen members of a four-generation, nonconsanguineous British family were examined clinically and also underwent automated perimetry, fundus fluorescein angiography, and fundus autofluorescence imaging. After informed consent was obtained, blood samples were taken for DNA extraction, and genetic linkage analysis was performed.The retinal changes have an early age of onset and are confined to the macular region. The macular abnormalities vary from mild retinal pigment epithelium (RPE) pigmentary change to atrophy. Drusen-like deposits are present to various degrees and are characteristic of the phenotype. Subretinal neovascular membrane (SRNVM) is an established complication. Genetic linkage analysis established linkage to chromosome 5, region p13.1-p15.33 with a maximum LOD score of 3.61 at a recombination fraction of 0.00 for marker D5S630. The locus for this autosomal dominant macular dystrophy lies between flanking markers D5S1981 and D5S2031.A novel locus has been identified for early-onset autosomal dominant macular dystrophy on chromosome 5.

A simple method for scoring the field of binocular single vision (BSV) is presented. The field is plotted on the Goldmann Perimeter using the III-4e target. The method gives greater weight to functionally important areas, especially the primary and reading positions. Several cases illustrate the application of the proposed scoring system by correlating patients' subjective disabilities with their diplopia scores. The method is more precise than any previous scheme and provides a quantitative measure that makes the examination of patients with diplopia more accessible to legal evaluation and numerical analysis.

The use of photographic methods to assess pupillary abnormalities has usually been restricted to the measurement of anisocoria in light and darkness. An improved, accurate and relatively inexpensive photographic technique of recording pupillary movement was described, and tested in normal individuals and in the Horner and Holmes-Adie syndromes. A modern SLR camera, preprogrammable for exposure frequency and interval, was used for serial flash-lit photographs of the eyes during the course of darkness and near vision/accommodation reflexes. Measurement of pupillary diameter from these photographs permitted graphs of pupillary reflexes to be drawn that resemble traces obtained by other authors, who used less readily available and cumbersome cinematographic and electronic infra-red pupillometric methods. In Horner's syndrome, the affected pupil was invariably smaller, and the anisocoria was more marked in bright light or darkness, depending on the individual. The rate of dark mydriasis was abnormally slow, and most effectively quantified by measuring the pupillary 'half opening time', which was the interval required for the initial 50% of dark-induced pupillary dilatation. Constriction of tonic pupils during near vision/accommodation in subjects with the Holmes-Adie syndrome was consistently slow, and these pupils also failed to dilate fully in darkness. The amplitude of the darkness and near vision accommodation reflexes correlated significantly. The diverse pathophysiological mechanisms implicated by these changes were discussed.

Ten cases of Horner's syndrome with pharmacologic testing and computed tomography scans are described in patients up to age 8 years. The patients also were assessed for iris color and facial sweating. Classical preganglionic Horner's syndrome associated with brachial plexus birth injury was not identified in any case. Two patients who presented with ptosis had neuroblastoma. Two other children had undergone corrective cardiothoracic surgery. Two patients had major congenital abnormalities. In four patients, no cause of Horner's syndrome was determined.

Amblyopia is the most common form of visual disability in children. Successful treatment by patching depends on compliance, but evidence of factors affecting compliance is limited and contradictory. Because there is a well established relationship between social deprivation and access to health care, we hypothesized that social deprivation might be associated with noncompliance. Data from a historical cohort of 961 children from seven English orthoptic clinics starting treatment for amblyopia in 1983 were used to study factors affecting compliance with amblyopia treatment. Children were classified as noncompliant if they failed to attend all appointments prescribed during the first year of treatment. There was a significant difference in compliance between centers (P=.0001). Overall, children with anisometropic amblyopia were more compliant than those with strabismus but this varied significantly between centers. A relationship between social deprivation and compliance was also found (P=.00001). Only 41% of children from the most deprived wards were compliant compared with 61% in the least deprived wards. Compliance was not found to be related to age at starting treatment.