Ophthalmic findings in linear scleroderma manifesting as facial en coup de sabre.

BACKGROUND: To evaluate ophthalmic involvement in a long-term series of patients with en coup de sabre (ECS) close to the eye based on the hypothesis that this is not commonly affected, or simply under-reported. METHODS: An observational study of ophthalmological findings in patients from Copenhagen University Dermatology Clinics. A standard eye examination further included exophthalmometry, axial length and keratometry (IOLMaster), and horizontal eye muscle thickness (B-scan ultrasonography). RESULTS: Thirty-one consecutive patients were included from 2014 to 2015 (25 females, 6 males; median age, 33 years; range, 11-71 years). Twenty-seven patients had undergone ophthalmic evaluation more than once (observation time, 1-31 years; median, 7 years). Most eyes were normal or had currently adapted to eventual adnexal lesions and to insidious changes in eye position and/or motility. However, significant ipsilateral complications had developed related to 8 eyes, where two patients had more than one disorder. The ophthalmic pathologies were: blind eye (n = 2) due to adult age keratopathy/perforation and to Coats-like retinal detachment in childhood; restricted eye motility and diplopia (n = 2); acquired corneal astigmatism (n = 2); and dense cataract with light sense only (n = 1). Two patients had optic neuritis-like presentations, and lacrimal sac pathology occurred in one. CONCLUSIONS: The main ophthalmic focus possibly explained the high proportion of significant lesions in this patient series (in 8 of 31). In addition to the established feature of enophthalmos, the oculometric evidence suggested smaller eye and rectus muscle involvement, interpreted as a secondary (late) negative trophic effect of the overlying skin disorder on eye structures.

Early postnatal hyperglycaemia is a risk factor for treatment-demanding retinopathy of prematurity.

BACKGROUND: To investigate whether neonatal hyperglycaemia in the first postnatal week is associated with treatment-demanding retinopathy of prematurity (ROP). METHODS: This is a Danish national, retrospective, case-control study of premature infants (birth period 2003-2006). Three national registers were searched, and data were linked through a unique civil registration number. The study sample consisted of 106 cases each matched with two comparison infants. Matching criteria were gestational age (GA) at birth, ROP not registered and born at the same neonatal intensive care unit. Potential 'new' risk factors were analysed in a multivariate logistic regression model, while adjusted for previously recognised risk factors (ie, GA at birth, small for gestational age, multiple birth and male sex). RESULTS: Hospital records of 310 preterm infants (106 treated; 204 comparison infants) were available. Nutrition in terms of energy (kcal/kg/week) and protein (g/kg/week) given to the preterm infants during the first postnatal week were statistically insignificant between the study groups (Mann-Whitney U test; p=0.165/p=0.163). Early postnatal weight gain between the two study groups was borderline significant (t-test; p=0.047). Hyperglycaemic events (indexed value) were statistically significantly different between the two study groups (Mann-Whitney U test; p<0.001). Hyperglycaemia was a statistically independent risk factor (OR: 1.022; 95% CI 1.002 to 1.042; p=0.031). CONCLUSION: An independent association was found between the occurrence of hyperglycaemic events during the first postnatal week and later development of treatment-demanding ROP, when adjusted for known risk factors.

Ultrasonic mirror image from ruthenium plaque facilitates calculation of uveal melanoma treatment dose.

BACKGROUND/AIMS: To present a new method to determine dose depth and the distance from the concave side of the plaque to the tumour base in patients with uveal melanoma treated with ruthenium-106 based on ultrasonic mirror image. METHODS: We used the mirror image associated with ultrasound during plaque brachytherapy to determine intraobserver reproducibility and interobserver agreement between two surgeons. 230 eyes with primary uveal melanoma were included in a retrospective analysis to determine the distance from the plaque to the tumour base using ultrasound. A phantom study was used to illustrate the effects on radiation dose to apex of the tumour when the dose depth was incorrectly determined. Doses to apex of the tumour were determined using Plaque Simulator. RESULTS: The intraobserver variation in dose depth measurement with plaque was significantly lower than for measures without plaque (p<0.001). Agreement between the surgeons was better with a plaque in place. Distances from the plaque to the tumour base were distributed with mean=0.99 (median: 1, range: 0.1-2.9 mm). From the phantom study, it was clear that the tumour did not receive the prescribed 100 Gy if the dose depth was incorrectly determined. CONCLUSIONS: The dose depth in patients with uveal melanoma must be measured accurately for correct calculation of the radiation dose to the apex of the tumour. Repeated in vivo and in vitro ultrasound measurements of dose depth showed higher variance than measurements using the mirror image produced from a ruthenium plaque. Using the mirror image thus help to improve the dose calculation.

Neonatal Risk Factors for Treatment-Demanding Retinopathy of Prematurity: A Danish National Study.

PURPOSE: One goal of the study was to identify "new" statistically independent risk factors for treatment-demanding retinopathy of prematurity (ROP). Another goal was to evaluate whether any new risk factors could explain the increase in the incidence of treatment-demanding ROP over time in Denmark. DESIGN: A retrospective, register-based cohort study. PARTICIPANTS: The study included premature infants (n = 6490) born in Denmark from 1997 to 2008. METHODS: The study sample and the 31 candidate risk factors were identified in 3 national registers. Data were linked through a unique civil registration number. Each of the 31 candidate risk factors were evaluated in univariate analyses, while adjusted for known risk factors (i.e., gestational age [GA] at delivery, small for gestational age [SGA], multiple births, and male sex). Significant outcomes were analyzed thereafter in a backward selection multiple logistic regression model. MAIN OUTCOME MEASURES: Treatment-demanding ROP and its associations to candidate risk factors. RESULTS: Mechanical ventilation (odds ratio [OR], 2.84; 95% confidence interval [CI], 1.99-4.08; P < 0.01) and blood transfusion (OR, 1.97; 95% CI, 1.20-3.14; P = 0.01) were the only new statistically independent risk factors, in addition to GA at delivery, SGA, multiple births, and male sex. Modification in these prognostic factors for ROP did not cause an increase in treatment-demanding ROP. CONCLUSIONS: In a large study population, blood transfusion and mechanical ventilation were the only new statistically independent risk factors to predict the development of treatment-demanding ROP. Modification in the neonatal treatment with mechanical ventilation or blood transfusion did not cause the observed increase in the incidence of preterm infants with treatment-demanding ROP during a recent birth period (2003-2008).

Bilateral optic neuropathy in a patient with familial amyloidotic polyneuropathy.

Amyloidogenic transthyretin (ATTR)-related familial amyloidotic polyneuropathy (FAP) is an autosomal-dominant hereditary disease characterised by slowly progressive peripheral sensorimotor and autonomic neuropathy and tissue involvement of the heart, kidneys and central nervous system. Secondary glaucoma has been reported following intraocular surgery, but optic nerve involvement unrelated to glaucoma has not previously been described. We reported a male patient in his late 40s when deceased, who previously had a liver transplant in order to reduce the abnormal protein synthesis underlying his FAP ATTR Val30Met mutation. After 11 years of ophthalmic follow-up best-corrected visual acuity was 20/100 in his seeing eye, which further had visual field findings suggestive of optic neuropathy. This was also the diagnosis underlying the preceding insidious full loss of vision in the fellow eye, with colour Doppler imaging to support an ischaemic aetiology. To our knowledge, this is the first report of ischaemic optic neuropathy in this familial amyloid disorder.

Cerebral damage may be the primary risk factor for visual impairment in preschool children born extremely premature.

OBJECTIVES To investigate the importance of cerebral damage and retinopathy of prematurity (ROP) for visual impairment in preschool children born extremely premature and to determine the primary risk factor of the two. METHODS A clinical follow-up study of a Danish national cohort of children born extremely premature (gestational age, <28 weeks). The study sample consisted of 262 extremely preterm children born between February 13, 2004, and March 23, 2006, of whom 178 children (67.9%) participated. A matched control group consisted of 56 term-born children (gestational age, 37 to <42 weeks). All participants were identified through the National Birth Register and invited to participate in a clinical examination. The children were evaluated with regard to visual acuity, foveal sequelae, and maximum ROP stage and the presence of global developmental deficits (an indicator for cerebral damage) that was measured by the Ages and Stages Questionnaire. RESULTS Global developmental deficits and foveal sequelae occurred more often in extremely preterm children than in term-born control children and increased with ROP severity (χ2 test; P = .11 and P < .001, respectively). Global developmental deficits, moderate to severe foveal abnormality, and ROP treatment were independently associated with visual impairment (P < .05, for better and worse eyes). A stepwise multiple logistic regression for better-eye logarithmic visual acuities of 0.3 or greater (Snellen scale, ≤0.5) yielded an odds ratio of 8.7 (95% CI, 3.0-25.2; P < .001) for global developmental deficit and 6.3 (95% CI, 2.2-18.5; P < .001) for moderate to severe foveal sequelae. CONCLUSION Cerebral damage and ROP are independent risk factors for visual impairment in children born extremely premature, and cerebral damage may be the primary risk factor.

Eye size in threshold retinopathy of prematurity, based on a Danish preterm infant series: early axial eye growth, pre- and postnatal aspects.

PURPOSE: To validate a hypothesis of restricted postnatal ocular growth associated with advanced retinopathy of prematurity (ROP), with a view also to preceding intrauterine growth retardation. METHODS: A clinically uniform sample of 28 preterm neonates was examined under general anesthesia from 1997 to 2002 for threshold retinopathy of prematurity (T-ROP), axial ultrasound oculometry being part of the evaluation (valid data in 53 eyes). Median values for gestational age at delivery (GA) and birth weight (BW) 27 weeks and 855 g, respectively, ranges 24.7-30.9 weeks and 480-1594 g. Median postconceptional age (PCA) at exam was 36.2 weeks (32.2-41.4 weeks) and median postnatal age was 9 weeks (5.8-14 weeks). "Small for gestational age" (SGA) at delivery was given by an individual birth weight standard deviation score. RESULTS: Compared with a previous Danish preterm series with less ROP, age-adjusted axial lengths (AL) in the T-ROP eyes were roughly 1 mm shorter and anterior chambers shallower. A higher GA was found to coincide with lower AL values; this appeared due to a subpopulation of infants loaded by SGA. The literature has no other uniform oculometry series of preterms of a similar advanced ROP degree. The present Danish results add to the composite picture drawn by neonatal reports from other investigators. CONCLUSIONS: There is evidence of postnatal ocular growth restriction in preterms associated with severe ROP. Some kind of latency is probable, from the immediate delivery-related biological effects until the appearance of macroscopic evidence. Statistics further suggested SGA as an apparently independent prenatal predictor of subsequent ocular growth restriction.

Experts do not agree when to treat retinopathy of prematurity based on plus disease.

OBJECTIVES: To investigate inter-reader agreement on five severity levels of central vascular changes (none, mild, moderate, severe pre-plus disease, plus disease) and aggressive posterior retinopathy of prematurity (ROP), and to see whether an unintended shift in indication for treatment occurred. METHODS: Four international ROP readers participated. Before the grading of the photographs, the readers were informed that a high proportion of advanced ROP cases were included. In total, 243 photographs/948 quadrants were available from 136 infants. As a standard series of photographs was available, grading was performed under optimised conditions. RESULTS: The four readers agreed on the quadrant scores of only 70 (7.38%) of the 948 quadrants--that is, on 1, 5, 15, 4 and 45 quadrants for scores 0, 1, 2, 3 and 4, respectively. The mean scores differed systematically between the readers (permutation test, p<0.0001). Agreement on presence of aggressive posterior ROP from all four readers was not obtained for any of the photographs. Readers scored plus disease in at least two quadrants in 95.5% of the eyes for which treatment was indicated. All four readers agreed on the scoring of indication for treatment for 195 eyes (80.2%); however, treatment was only recommended in 18 (7.4%) eyes. One reader was found to differ systematically from the others in indicating treatment (Rasch analysis; p=0.0001). Finally, a significant shift in indication for treatment occurred between birth period 2000-2002 and 2003-2006 (Mann-Whitney rank sum test, p<0.001). CONCLUSIONS: Inter-reader agreement on central vascular changes is poor, especially when based on more than two rating categories. The subjective nature of diagnosing such vascular changes possibly resulted in earlier treatment of preterm infants in Denmark over the entire study period (1997-2006). The recent increased incidence of treated infants in Denmark is, at least in part, explained by a significant shift in indication for treatment.

A new risk-based screening criterion for treatment-demanding retinopathy of prematurity in Denmark.

OBJECTIVE: The aim of this study was to uncover the most effective and safe criterion to implement for retinopathy of prematurity screening in Denmark. METHODS: This retrospective national cohort study is based on data from 3 national registers. These registers provided on infants treated for retinopathy of prematurity, infants in need of treatment but missed by the present screening program, and the candidate neonates for advanced retinopathy of prematurity development A nonlinear logistic regression model was fitted to the data, and various screening criteria were evaluated. RESULTS: During the study period (2002-2006), 116 infants were treated for retinopathy of prematurity, no treatment-demanding retinopathy of prematurity infants were missed by the screening program, and 182 premature infants were candidates for developing treatment-demanding retinopathy of prematurity. Screening criteria combining gestational age at delivery and birth weight limits and new risk-based criteria were compared with regards to their effectiveness. The risk-based criteria were the most effective. Use of the 0.13% risk-based criterion to define the population to be screened resulted in the detection of all treated infants in the study period and 17.4% fewer infants to screen. The model predicted this criterion to result in 1 missed case of treatment-demanding retinopathy of prematurity every 11 years and 1 case of blindness every 18 years in Denmark. CONCLUSIONS: Screening criteria based on risk estimates of developing treatment-demanding retinopathy of prematurity are the most effective for retinopathy-of-prematurity screening. The risk-based criterion of 0.13% can safely be implemented for future retinopathy-of-prematurity screening in Denmark.

Treatment for retinopathy of prematurity in Denmark in a ten-year period (1996 2005): is the incidence increasing?

OBJECTIVE: The objective of this study was to analyze the population incidence of retinopathy of prematurity treatment in Denmark in the 10-year period from 1996 to 2005. METHODS: Patient charts of infants treated for retinopathy of prematurity and the national birth registry provide information about neonatal parameters. These parameters, along with birth in the latter half of the period (2001-2005), were analyzed as risk factors for retinopathy of prematurity. The national registry for blind and visually impaired children was accessed to obtain information about visual impairment attributable to retinopathy of prematurity in both treated and untreated infants. RESULTS: The study population consisted of 5467 Danish preterm infants born in 1996 to 2005, with a gestational age of < 32 weeks, who survived for > or = 5 postnatal weeks; 2616 were born in 1996 to 2000, and 2851 were born in 2001 to 2005. The incidence of treated retinopathy of prematurity cases increased significantly from 1.3% in 1996 to 2000 to 3.5% in 2001 to 2005. Significant risk factors for retinopathy of prematurity treatment were low gestational age, small for gestational age, male gender, and multiple birth. Other, yet unknown factors contributed to the increased incidence in the latter half of the period. Of the study population, 0.6% were registered as visually impaired because of retinopathy of prematurity within 2 years after birth (early-detected visual impairment). The incidences were not significantly different between 1996 to 2000 and 2001 to 2005. Of all of the early-detected, visually impaired children, 16% had not been treated for retinopathy of prematurity and were considered screening failures. CONCLUSIONS: The incidence of retinopathy of prematurity treatment in Denmark has more than doubled during the past half-decade. This increase could not be fully explained by increased survival rates for the infants or by changes in the investigated neonatal risk factors.

[Anti-TNFalpha treatment of juvenile uveitis]. / Tumornekrosefaktor alpha-haemning som led i behandling af uveitis hos børn.

INTRODUCTION: To present our experience with anti-TNFalpha treatment of juvenile idiopatic arthritis (JIA) associated uveitis. MATERIALS AND METHODS: All 11 children with severe uveitis were monitored between 2001 and 2005. Nine of the children had JIA and a set of twins had a rare hereditary granulomatous disease, Blau's syndrome. The patients were selected and the reason for starting anti-TNFalpha treatment was an insufficient response in the arthritis or uveitis to previous therapy. RESULTS: In all patients the anti-TNFalpha treatment reduced the activity of uveitis. The response to treatment was related to 1) visual acuity and 2) the reduction of systemic immune-suppressing agents. All 11 children are still on anti-TNFalpha treatment. CONCLUSION: Anti-TNFalpha was effective in treating uveitis in all 11 patients. In patients with active uveitis associated JIA not responding to corticosteroids and methotrexate and with declined vision the trend is to start anti-TNFalpha treatment early in the inflammatory disease to prevent long term complications to the eyes. The results indicate a superiority of infliximab over Eternacept in the treatment of uveitis.

Risk factors for idiopathic congenital/infantile cataract.

PURPOSE: To investigate maternal, demographic, and pre- and perinatal risk factors for idiopathic congenital/infantile (ICI) cataract. METHODS: Based on national registries, a cohort of all children born in Denmark and aged 0 to 17 years during 1977 to 2001 was established, and congenital/infantile cataract cases were identified. Cases of unknown/idiopathic cause were included in the study. Associations between maternal, demographic, and pre- and perinatal factors with the development of cataract were investigated. RESULTS: In a cohort of 2.9 million children, 1027 cases of congenital/infantile cataract were identified. Of the children in those cases, 629 were born in Denmark and had ICI. Bilateral isolated cataract cases were male dominated (62%; 95% confidence interval [CI], 56%-69%) but not unilateral isolated cases (40%; 95% CI, 34%-47%). Older age (> or =40 years) of mothers at delivery and caesarean section increased the risk of ICI cataract. Low birth weight (< 2000 g) was associated with a 10.6-fold (95% CI, 6.99-16.10) increased risk of bilateral, but not unilateral, ICI cataract. No significant associations were found with birth order, month/place of birth, or cigarette smoking during pregnancy. CONCLUSIONS: Variables indicative of environmental influence were not associated with ICI cataract. Low-birth-weight children (< 2000 g) had a significantly increased risk of bilateral ICI, whereas no strong risk factors were found for unilateral cataract. Together with the sex difference, this suggests that the etiologies of bilateral and unilateral cataract are different.

Oculometric characteristics of extreme hypermetropia in two faroese families.

PURPOSE: To describe and analyze the oculometric features of small eyes with high hypermetropia in two Faroese families, with emphasis on refractive components. METHODS: Members of the two families (N=40; age, 1 to 77 years), including 15 cases of extreme hypermetropia (+7.5 to +19.25 D), had an ophthalmic evaluation including refractometry, keratometry, and axial ocular measurements using A-scan ultrasound. Eye-wall thickness was assessed using B-scan. Nonparametric statistics were used, mainly the Mann-Whitney U test. RESULTS: In the two families, there were six and nine probands, respectively, with hypermetropia more than +7 D and short eyes as defined by axial eye lengths <21 mm. The median corrected visual acuity was 0.4 (range, 0.2 to 0.9). Gross fundus abnormalities were not observed. All 15 had a short posterior segment with a thick eye wall and a relatively thick lens. Furthermore, steep and rather small corneas were present. In one of the families, 70% of the affected had a corneal curvature radius of < or =7.0 mm. Five probands from family 2 were labeled as possibly affected because of hypermetropia and borderline axial length findings (21 to 22 mm). The remaining 20 subjects had visual acuity and oculometric findings within physiologic limits. CONCLUSIONS: The axial measurement features in our series of highly hypermetropic eyes mainly presented as an extension downward from the hypermetropic bottom line of the normal distribution. The axial shortness of the eyes was primarily the result of a short posterior eye segment ("posterior microphthalmos"). A steep cornea was a feature in most small eyes in our series, particularly in one family branch.

Bilateral endogenous bacterial endophthalmitis: a report of four cases.

PURPOSE: To present and discuss four cases of bilateral endogenous endophthalmitis. METHODS: An observational study of four patients aged 55-80 years, seen within a 2-year period. All had diagnostic and therapeutic vitrectomy. The antibiotic therapy was guided by analyses of cultures of blood and vitreous. RESULTS: Blood cultures demonstrated Streptococcus pneumoniae in two patients and Staphylococcus aureus and Morganella morganii, each in one patient. The findings corresponded with culture findings from vitreous material in two patients. The primary foci for the metastatic spread of infection were endocarditis, discitis and a subdural abscess of the lumbar spine, urinary tract infection, and infection of a recent hip alloplasty, respectively, in the four patients. Five eyes became blind, whereas three eyes recovered to visual acuity of 0.25-0.67. CONCLUSIONS: Endogenous bacterial endophthalmitis usually leads to total loss of vision. The disease is acute and the time span for intervention limited. We believe that an active therapeutic approach including intravitreal antibiotics and vitreoretinal surgery saved three eyes from blindness.

Incidence and cumulative risk of childhood cataract in a cohort of 2.6 million Danish children.

PURPOSE: To determine the incidence and cumulative risk of childhood cataract in Denmark during 1980 to 2000. METHODS: A cohort of 2,616,439 Danish children born between 1962 and 2000 was followed from 1980 or from the day of birth, whichever occurred later, until their 18th birthday, death, emigration, or diagnosis of cataract, whichever occurred first. Cases were ascertained from the Danish National Register of Patients (NRP) and validated by reviewing the medical records. They were divided into four groups: congenital/infantile (CI) cataract, traumatic cataract, complicated cataract, and "other" types of cataract. RESULTS: After diagnostic validation, 1311 children with cataract (59% with CI cataract) were included in the study. During 1995 to 2000 the overall cumulative risk of childhood cataract was 108.4 per 100,000 children. There was no significant difference in incidence between girls and boys or over time (1980 to 2000) for CI, complicated, and "other" types of cataract. In contrast, the incidence of traumatic cataract was significantly higher among boys. It remained increased during the entire study period despite a 23% decrease per 5 years among boys. Sixty-six percent of the children diagnosed with CI cataract below 2 years of age underwent surgery within 1 year. CONCLUSIONS: The stable incidence during a 20-year period of CI cataract and complicated cataract indicates that risk factors for these conditions have remained unchanged, whereas the marked drop of traumatic cataract among boys most likely reflects changed behavior and an increased focus on preventive measures.