[A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)]. / Neugeborenes mit Nasenagenesie: Neonatologische Herausforderungen bei der Versorgung eines Neugeborenen mit Bosma-Arhinie-Mikrophthalmie-Syndrom (BAMS).

The rare clinical picture of nasal agenesis is to be presented on the basis of a female newborn. Intrauterine growth restriction with polyhydramnios and midface hypoplasia were noted during pregnancy. Primary cesarean section at 38 + 4 weeks' gestation was done. Airway management was achieved by splinting through a Mayo tube which was subsequently replaced by a pharyngeal endotracheal tube without signs of respiratory failure. In addition to a complete nasal agenesis, hypertelorism, a Gothic palate, bilateral microphthalmus, and iris coloboma were found. Ultrasound scans of cerebral structures were normal. An orogastric tube was placed, and drinking training and a special pacifier improved coordination and drinking performance. We suspected a case of Bosma arhinia microphthalmia syndrome (BAMS). The structural maintenance of chromosomes flexible hinge domain (SMCHD) containing 1 gene plays a key role in the embryogenesis of the human nose and is known for mutations in BAMS. A heterozygous de novo mutation in the SMCHD1 gene (c.1043A > G; pHis348Arg) was confirmed by molecular genetic analysis. Initial stabilization after birth is often a challenge in patients with nasal agenesis. They are often intubated immediately postpartum and electively tracheotomized. In the absence of respiratory problems and appropriate growth, however, there is no urgent indication for early plastic surgical treatment, given the inherent risks of sepsis and growth disorders in the midface.

Elevated lipoprotein (a) levels are an independent risk factor for retinal vein occlusion.

PURPOSE: To investigate the prevalence of lipoprotein (a) [Lp(a)] and other thrombophilic disorders among retinal vein occlusion (RVO) patients with regard to age and various risk factors. METHODS: We retrospectively reviewed the medical records of 100 patients with central, hemicentral or branch RVO who had undergone routine thrombophilia screening. Data were compared with 100 controls. Both cohorts were divided into three subgroups (≤45 years, >45-≤60 years or >60 years), depending on the patients' age at the time of the RVO or a previous thromboembolic event. RESULTS: Elevated Lp(a) plasma levels were significantly more prevalent among RVO patients than among controls (p < 0.0001; OR: 4.8). Moreover, we determined age ≤60 years by the time of the first thromboembolic event as a strong predictor of elevated Lp(a) (p = 0.0002). The coincidence of elevated Lp(a) with other coagulation disorders further increased the OR for RVO to 9.3 (95% CI 2.1-41.8). Multivariate analysis revealed the presence of cardiovascular risk factors (OR: 3.1, p = 0.0004), elevated lipoprotein (a) levels (OR: 5.2, p = 0.0001) and increased factor VIII activity (OR: 5.9, p = 0.001) as independent risk factors for the development of RVO among patients. CONCLUSION: Our results indicate that elevated plasma levels of Lp(a) are associated with the development of RVO. Selective screening of young patients and subjects with a personal or family history of thromboembolism may be helpful in identifying RVO patients with elevated Lp(a).

Time between symptom onset and assessment in age-related macular degeneration with subfoveal choroidal neovascularization.

BACKGROUND: Therapy delay in neovascular age-related macular degeneration (NV-AMD) is associated with risk of visual deterioration. METHODS: Retrospective cross section analysis including patients with NV-AMD who received fluorescein angiography (FA). The time elapsed from symptom onset to assessment was analysed in relation to different factors. Inclusion criteria were: age >50 years, symptom onset within 6 months before assessment, no previous AMD therapy, indication for vascular endothelial growth factor inhibitor treatment. RESULTS: Mean duration of symptoms was 2.272 +/- 1.683 months (n = 220); percentiles 25, 50, 75 and 90 corresponded to 1, 2, 3 and 5.383 months. A significant increase (p = 0.033) in mean symptom duration was found between age groups 65-74, 75-84 and over 84 years. Privately insured persons (assessment 1.242 +/- 1.060 months after symptom onset; n = 14) received FA 1.083 months earlier (p = 0.0089) than patients with a statutory health insurance (assessment 2.325 +/- 1.661 months after symptom onset; n = 194). CONCLUSION: In order to avoid progressive visual deterioration in patients with NV-AMD earlier assessment of these individuals should be aimed for.

Content quality of ophthalmic information on the internet.

PURPOSE: Little is known whether information about eye conditions on the Internet is complete and accurate to support patient or layman decision making. METHODS: Quality of content modules about age-related macular degeneration (AMD) was analyzed on 20 web sites. Content analysis covered 72 criteria in 11 groups. Each single criterion was rated with '1' or '0' (yes/no answer). RESULTS: The interrater reliability between two observers was almost perfect (kappa = 0.86). On average, 25.6% (+/-15.6) of the criteria were fulfilled. In the categories diagnostic procedures, therapy, preventive checkups, prevention and prognosis of AMD, only 12.7, 18.3, 20.0, 25.0 and 30.0%, respectively, of the required content was given. CONCLUSION: Our study shows, based upon the example of university eye hospitals, that the full potential to provide laymen with firsthand and up-to-date information has by far not yet been achieved. Further research is needed on how the Internet influences the communication between patient and ophthalmologist.

Electronic monitoring of occlusion treatment for amblyopia in patients aged 7 to 16 years.

BACKGROUND: Age limits for the prescription of amblyopia treatment have been debated and challenged recently, due to results of studies from ophthalmology and the neurosciences. Lack of knowledge about compliance with prescribed treatment is still a major factor for the uncertainty about the amount of plasticity in the visual system of older children and adolescents. The development of devices for the electronic recording of patching (Occlusion Dose Monitor, ODM) has allowed the collection of objective data about daily occlusion. METHODS: In a prospective study, occlusion dose rates were recorded continuously during 4 months by means of the ODM developed in the Netherlands [1] in nine amblyopic patients between 7 and 16 years of age who were prescribed between 5 and 7 hours of daily patching. Visual acuity was assessed every 3 to 6 weeks. RESULTS: The electronic monitoring showed objective occlusion between 2 and 6.25 hours/day (mean 4.61 h/d) during the first month and 0 to 6.5 hours/day (mean 3.47 h/d) during the following 3 months of treatment. The total acuity gain in the amblyopic eye amounted to between -0.1 and 0.4 log units (mean 0.19) for crowded optotypes. Differences to initial acuities were statistically significant. The calculated average dose-response relationship (cumulated hours occlusion*0.1/acuity gain) for 4 months of occlusion was 234 hours of occlusion per 0.1 log unit of acuity gain. CONCLUSIONS: This study presents for the first time objective treatment and dose response data in amblyopic patients beyond the "classical" treatment age. Electronic monitoring of occlusion and considerable amounts of patching were shown to be feasible. The acuity results indicate that there is a potential for improvement, yet treatment seemed to be less efficient than shown by previous studies in younger patients. Continuation of this research may advance the discussion about age-dependent evidence-based amblyopia treatment, about preschool screening for amblyopia and about plasticity of the visual system.

Coil embolization of cavernous sinus in patients with direct and dural arteriovenous fistula.

To determine technical success and acute complication rates after endovascular coil packing of the cavernous sinus. Nineteen patients presented with either direct (13) or dural (6) arteriovenous fistula (AVF) and were treated by means of coil embolization of the cavernous sinus. The aim of treatment was complete obliteration of the fistula. In a retrospective study, the degree of obliteration, regression of symptoms as well as complication rates were evaluated. Initial complete obliteration was achieved in 12 patients, subtotal occlusion of the sinus in 6 and incomplete packing with major residual fistula in 1 of the patients. Retreatment was successfully performed in two patients with early recurrence of AVF. Follow-up showed complete occlusion rates in 16 and subtotal obliteration in 3 patients. Chemosis and exophthalmus regressed rapidly in all affected patients. Persistence of cranial nerve deficits was observed in 11 cases. Postinterventional thrombosis of the ophthalmic vein was the only major acute complication (n = 2). Coil embolization of the cavernous sinus in cases with AVF is a complex procedure that is technically feasible and safe in the majority of cases. Adequate anticoagulation is recommended to avoid thrombembolic complications. Long-term outcome has to be determined by further studies.

Selective thrombophilia screening of patients with nonarteritic anterior ischemic optic neuropathy.

BACKGROUND: To date, the question whether there is a relationship between thrombophilic disorders and the development of nonarteritic ischemic optic neuropathy (NAION) remains controversial. We sought to investigate the prevalence of various coagulation defects among NAION patients <65 years of age, and to provide clinical guidelines for a selective thrombophilia screening. METHODS: A cohort of 35 patients <65 years of age with NAION and 70 controls matched for age and sex were prospectively screened for thrombophilic risk factors. RESULTS: Overall, thrombophilic defects were found to be present in 18 of 35 patients (51.4%) and in 12 of 70 (17.1%) controls (P = 0.0005). The most frequent coagulation disorders were increased levels of factor VIII (P = 0.015) and lipoprotein (a) (P = 0.005). Patients without cardiovascular risk factors had a statistically significant higher frequency of coagulation disorders than patients with these risk factors (P = 0.0059). There was a strong association of coagulation disorders and a personal or family history of thromboembolism (P = 0.028). Moreover, we determined the age of

Transparency of information on eye diseases on the internet.

BACKGROUND: Transparency is an indicator of trustworthiness and quality of health information about eye diseases on the Internet. METHODS: 20 websites that contained information about eye diseases aimed at the general public were evaluated. A modified Afgis (Aktionsforum Gesundheitsinformationssystem/action forum health information system) project transparency checklist was used. RESULTS: On average, 6.15 +/- 1.68 criteria were fulfilled. All websites maintained separation between advertising and editorial content. Between 80 and 90% of the websites studied contained complete information about the provider, aims and target audience, and feedback from users. The criteria for privacy were met by 70% of websites, 40% met those for currency of content and data, 35% those for methods of quality assurance, 15% those for financing and sponsoring and 0% met the requirements for authors and sources of information. CONCLUSION: Visually impaired people benefit from transparency, because this facilitates accessibility to web-based health information. Hence, websites containing health information related to eye diseases should meet the demands of transparency.

Predictability of intraocular lens calculation using the Holladay II formula after in-the-bag or optic captured posterior chamber intraocular lens implantation in paediatric cataracts.

PURPOSE: To assess the predictability of postoperative refraction using the Holladay II-formula in paediatric patients randomized to undergo 2 different surgical procedures. METHODS: Fourty cataractous eyes of 29 patients (age 2.31-11.75 years) were operated with in-the-bag intraocular lens implantation. Randomly, either an anterior vitrectomy (group A, 19 eyes) or posterior optic capture without vitrectomy (group B, 21 eyes) was performed. Randomization was done in 4 separate age groups, in accordance with 4 target refractions (0, 1, 2 and 3 dpt) to compensate for the anticipated myopic shift. RESULTS: The predicted refraction correlated with the achieved postoperative refraction (total group, p = 0.019), closer in group A (p = 0.033) than in group B (p = 0.265); however, the results of groups A and B were not significantly different (p = 0.324). There was a tendency for postoperative targeted hyperopia being underachieved in the youngest patients. CONCLUSION: The Holladay II formula provides reliable intraocular lens calculation in paediatric cataracts. The tendency to underachieve the target refraction in younger patients needs further investigation.

Accessibility of health information on the internet to the visually impaired user.

PURPOSE: Web sites containing health information should be accessible to visually impaired persons. METHODS: 139 web sites containing medical information addressing laymen or patients were evaluated with respect to their accessibility. A quantitative checklist which is based upon the Web Content Accessibility Guidelines of the World Wide Web Consortium (W3C) was used. RESULTS: Only 18% (15 sites) achieved WAI (Web Accessibility Initiative) level A or AA. WAI level AA was reached by only 1% (1 site) of the web sites. None of the web sites reached level AAA; 82% of the assessed web sites offering consumer health information are not fully accessible to visually impaired persons. CONCLUSION: The accessibility of web-based health content to visually impaired users should be improved. Health information on the web should at least meet the requirements of priority 1 (level A), preferably priority 2 (level AA) of the W3C guidelines.

Risk factors for complications after congenital cataract surgery without intraocular lens implantation in the first 18 months of life.

PURPOSE: To determine individual risk factors for the development of postoperative complications after pediatric cataract surgery in the first 18 months of life. DESIGN: Interventional, consecutive case series. METHODS: We retrospectively reviewed the records of 71 eyes of 46 children who underwent surgery for congenital cataract within the first 18 months of life. A limbal approach bimanual lens aspiration, posterior capsulorrhexis, and anterior vitrectomy without intraocular lens implantation was performed in all children. We examined the interrelationships of operative and postoperative complications with other variables such as patient age, family history, or ocular abnormalities. The mean follow-up period was 39 months. RESULTS: The most frequent postoperative complications were late-onset open-angle glaucoma (10.8%) and vitreous hemorrhage (10.8%), whereas early-onset glaucoma (4.6%) was less common. Secondary cataract was observed in seven eyes (9.2%). We determined a family history of aphakic glaucoma in first-degree relatives (P = .007) as well as cataract surgery in the first three months of life (P = .039) and nuclear cataracts (P = .0009) to be strong predictors of late-onset glaucoma. Secondary cataract formation was associated strongly with lensectomy in the first five months of life. The diagnosis of postoperative hemorrhages was associated significantly with the presence of persistent fetal vasculature (P < .0001). CONCLUSIONS: Patients with preoperative predictors at presentation such as young age at the time of surgery, a family history of aphakic glaucoma, nuclear cataract, or persistent fetal vasculature syndrome offer a clear target for extensive postoperative care after congenital cataract surgery.

Clinical effectiveness of balloon dacryocystoplasty in circumscribed obstructions of the nasolacrimal duct.

PURPOSE: Balloon dacryocystoplasty (DCP) is known to have limited clinical success rates. In a previous publication, we tried to define subgroups that could benefit from interventional treatment of tear duct stenoses. The purpose of this study was to evaluate the clinical effectiveness of DCP performed with limited indication confined to patients with circumscribed stenosis or distal occlusion of the nasolacrimal duct (NLD). PATIENTS AND METHODS: Twenty-nine patients with severe epiphora due to dacryocystographically proven postsaccal obstruction of the lacrimal draining system were treated by means of DCP and were available for a telephone interview after a median follow-up period of 40 months (5-75 months). A standardized questionnaire covered the individual history of epiphora before and after interventional treatment. All patients had circumscribed stenoses of the lower lacrimal sac or the NLD or presented with short-distance occlusions of the distal NLD. Patients with canalicular, high saccal or diffuse lesions as well as cases with active dacryocystitis, suspicion of dacryocystolithiasis or posttraumatic stenosis were excluded from DCP. Failures or recurrences with no major improvement compared with the initial status were taken as a study endpoint. RESULTS: We dilated 21 partial and 8 complete obstructions and post-DCP control dacryocystograms showed a widening of the ductal lumen or improvement of flow. In 25 out of 29 patients, regression of clinical symptoms occurred during the first week after treatment, 4 cases remained unchanged. Ten out of 25 patients with initial improvement reported recurrence of severe epiphora after a median period of 5 months. Five patients of all treated patients (n = 29) received additional operative dacryocystorhinostomy (DCR) after failure of DCP or due to severe recurrences. One patient received DCR during the 1st week after DCP (n = 1). Four out of 25 patients with initial improvement underwent DCR. Overall, 15 of the 29 treated patients had durable improvement of epiphora by DCP alone. CONCLUSION: Even patients with circumscribed obstructions of the NLD and exclusion of factors potentially associated with poor outcome of tear duct stenosis after DCP balloon dilatation showed a limited clinical success and high recurrence rate. The main argument to continue DCP as first or second line treatment in selected patients with duct obstructions is its lack of invasiveness. Even patients with increased risk of general anesthesia can be treated and approximately half of the operations may be avoided.

Corneal ulcer caused by a wooden foreign body in the upper eyelid 6 months after minor injury.

PURPOSE: To describe a case of a wooden foreign body in the upper eyelid that remained asymptomatic for 6 months. CASE REPORT: A 9-year-old boy was presented with moderate upper lid swelling. Medical history was positive for trauma with a wooden stick 6 months ago. At first, the condition resolved under local antibiotic treatment. Three weeks later, the inflammation recurred and a corneal ulcer developed. Examination under general anesthesia revealed a wooden foreign body which had remained in the upper eyelid since the first injury. CONCLUSION: Organic foreign bodies in the eyelid can remain asymptomatic for a long period of time and can play a role in periocular inflammation. In case of doubt, children and other less cooperative patients should be examined under general anesthesia.

Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.

OBJECTIVE: To describe a novel missense mutation in the antithrombin gene associated with antithrombin deficiency type I in a 40-year-old man with retinal vein occlusion. DESIGN: Investigational case report. RESULTS: Ophthalmoscopy of the right eye showed hemicentral retinal vein occlusion. The patient's medical history was negative for glaucoma or cardiovascular risk factors. Screening for thrombophilic disorders revealed antithrombin deficiency type I. Based on a genetic analysis, a novel missense mutation of a transition of guanosine to cytosine at nucleotide position 9840 was detected, predicting the replacement of aspartic acid by histidine encoded by codon 366 (D366H) in exon 5. CONCLUSIONS: Selective screening may be helpful in identifying patients with retinal vein occlusion with thrombophilic defects. When ordering laboratory tests in patients with retinal vein occlusion, antithrombin deficiency type I should be considered in the differential diagnosis. CLINICAL RELEVANCE: Our results contribute to a better understanding of the molecular bases of antithrombin deficiency, adding a novel entry for the molecular defects causing antithrombin deficiency type I. Moreover, the identification of this thrombophilic disorder in retinal vein occlusion may be relevant to the issue of the initiation and duration of oral anticoagulant therapy.

Occlusion treatment for amblyopia: assessing the performance of the electronic occlusion dose monitor.

Electronic Occlusion Dose Monitors (ODMs) are a fairly recent development. As part of the international Electronic Recording of Patching for Amblyopia Group (ERPAG), we are the first center in Germany to apply these devices. The aim of our independent study was a further assessment of their potential, including technical features and the practicability of long-term use under near-clinical conditions. The ODMs, taped to the occlusion patch, measure the temperature difference between the surface of the eye and the surroundings. Investigators and patients' families kept occlusion diaries while using ODMs. Measurements were performed on the eye (patch tight or detached), forehead, arm and in trouser pockets, and while varying the room temperature. Patients' occlusion was monitored for several months together with acuity development. ODM acceptance was assessed by questionnaire. Written and monitored occlusion times corresponded excellently. Proper measurements on the eye could be distinguished more readily from those with the patch detached or in the pocket than from measurements on the arm and forehead. Very high temperatures (33-37 degrees C) prevented reliable measurements. Using ODMs was convenient for parents but time-consuming for researchers. Despite occasional data loss (incomplete diaries, ODM failure), acuity development could be followed as a function of monitored occlusion dose. This study contributes to the specification of the ODM features and their refinement for clinical use.

Massive subhyaloidal hemorrhage associated with severe PAI-1 deficiency.

PURPOSE: To report an association between spontaneous subhyaloidal hemorrhage and severe plasminogen activator inhibitor-1 (PAI-1) deficiency. METHODS: Case report. RESULTS: A 29-year-old woman presented with sudden, painless visual loss to hand motion in her right eye. Ophthalmoscopy showed a massive subhyaloidal hemorrhage. The patients' medical history was negative for cardiovascular risk factors, trauma, infections or bleeding complications. Further investigation into possible causes revealed hyperfibrinolysis secondary to severe PAI-1 deficiency. The non-clearing subhyaloidal hemorrhage was successfully treated by pars plana vitrectomy, and her visual acuity improved to 20/20. CONCLUSION: When ordering laboratory tests in patients with spontaneous subhyaloidal hemorrhage to rule out fibrinolytic disorders, severe PAI-1 deficiency should be considered in the differential diagnosis. Selective screening may be helpful in identifying ophthalmologic patients with hyperfibrinolysis, especially in young individuals with subhyaloidal hemorrhages in the absence of other recognized risk factors.

Three-dimensional rotational dacryocystography for imaging of the lacrimal draining system and adjacent anatomical structures.

PURPOSE: A three-dimensional (3D) rotational angiography system was used to perform 3D dacryocystography (3DRD) as an adjunct to the conventional dacryocystography assisted by digital subtraction angiography (DSA). METHODS: In 15 patients with severe epiphora, 3DRD was performed after inconclusive results from DSA-assisted dacryocystography. RESULTS: 3DRD was technically feasible and well tolerated in all 15 cases. In 5 out of 15 patients, 3DRD, in contrast to DSA-assisted dacryocystography, distinguished clearly between stenotic lesions of the canaliculi, lacrimal sac or nasolacrimal duct. In 10 cases, the simultaneous display of tear ducts and adjacent structures of the nasal cavity provided critical anatomical information for decision making between endoscopic and open dacryocystorhinostomy. CONCLUSIONS: 3DRD is technically feasible and adds important information to conventional DSA-assisted dacryocystography.

Unilateral exophthalmos associated with severe fibrous dysplasia.

Fibrous dysplasia is a benign developmental anomaly of bone, often affecting craniofacial bones. We report on a 9-year-old boy, who presented for routine checkup. Clinical examination revealed unilateral exophthalmos of his left eye without decrease of visual acuity or double vision. Radiologic studies showed characteristic extensive changes of fibrous dysplasia involving the left frontal bone, left orbital bones, maxillary and sphenoid bones. The patient was started on conservative therapy and the condition of the affected eye remained stable. As fibrous dysplasia of the orbital bones can be a cause of significant dysfunction and a treatable cause of blindness, early diagnosis is very important. These patients are most likely to present with complaints of facial asymmetry, including axial, vertical, or horizontal displacement of the globe, or visual loss. Therefore the ophthalmologist plays an important role in the early diagnosis of fibrous dysplasia.

Electronic recording of occlusion treatment for amblyopia: potential of the new technology.

BACKGROUND: Approximately one third of all amblyopic eyes do not reach visual acuity of 20/40 in spite of occlusion therapy. One of the reasons is a lack of adherence to therapy, which, however, could not be quantified in the past. Experience with new devices (occlusion dose monitors, ODMs) for electronic recording of occlusion has recently been reported. The aim of the present study was to evaluate the potential of the ODMs developed in The Netherlands. Various features were tested, including the reliability of the ODM recordings compared to diaries, two ODMs used simultaneously on one patch, the influence of the ambient temperature, and the specificity of the recording pattern for measurements on the eye. METHODS: The ODMs were taped to the outside of the standard occlusion patch and measured the temperature difference between their front and back surfaces. Members of the research group and the families of two patients kept occlusion diaries while using the ODMs. Recorded and written occlusion periods were compared. Measurements were carried out under various conditions: patch with one ODM tightly on the eye or detached (allowing peeping); ODMs taped to various parts of the body; two ODMs simultaneously on one patch; variation of room temperature. RESULTS: There was good correspondence between the occlusion times recorded by the ODMs and those from the diaries, as well as between the recordings of two ODMs used simultaneously on one patch. High ambient temperatures (33 degrees C to 37 degrees C) prevented reliable ODM measurements. Measurements on other parts of the body were misclassified with probabilities between P=0.099 and P=0.325 as measurements with the patch tightly on the eye. CONCLUSIONS: In spite of some technical limitations, the ODMs provide a chance for reliable assessment of compliance and therefore objective information on dose-response function for occlusion therapy. This will lead to a more evidence-based treatment for amblyopia.