Septo-optic dysplasia (SOD) is a heterogeneous brain midline anomaly associated with ophthalmological, endocrinological, and/or neurodevelopmental symptoms. The clinical phenotype correlates with abnormal brain magnetic resonance imaging (MRI) findings. However, variations of the septum pellucidum (SP) appearance and their clinical impact have not been studied in depth. Sixty-eight patients with optic nerve hypoplasia (ONH) were investigated for the presence of associated SP anomalies and correlations between clinical findings and their MRI abnormalities established. Thirty patients had either complete (n = 22) or partial (n = 8) absence of the SP. Pituitary hormone deficiencies were present in 64% or 25% of the cases, respectively. Neurological symptoms did not occur in patients with SP remnants or unilateral ONH. Hippocampus abnormalities (43%) that have not been described before in SOD and falx abnormalities (17%) correlated significantly with neurological symptoms and developmental delay (p < 0.05 and p < 0.01, respectively). Maternal age at birth was low (21.2 years) and drug abuse during pregnancy was reported in 27% of the patients. Twelve patients with pituitary anomaly and ONH but normal SP showed similar clinical and MRI features, and were classified as SOD-like. The remaining 26 patients were not assigned to SOD. We conclude that unilateral ONH and SP remnants are associated with a milder SOD phenotype. Hippocampus abnormalities and falx abnormalities seem to constitute important features of severe clinical disease, irrespective of SP appearance. Our anamnestic data support the hypothesis of vascular disruption during embryogenesis.

Problemstellung: Die visuelle Rehabilitation nach Operation einer kongenitalen emnoder beidseitigen Katarakt ist eine Herausforderung fiir den Augenarzt and die Eltern der kleinen Patienten. Die Korrektur der Aphakie bei Kindern unter 18 Monaten durch Kontaktlinse oder Brille and eine gleichzeitig erforderliche Amblyopiebehandlung sollen zu einer moglichst optimalen visuellen Entwicklung fuhren. Methode and/oder Patienten: Wir versorgten 62 Kinder im Alter unter 18 Monaten (29 mit einseitiger and 33 mit beidseitiger Aphakie) mit Kontaktlinsen and im Fall von Kontaktlinsenproblemen oder -unvertraglichkeit mit Brille. Es werden die speziellen Probleme and Anforderungen bei der Kontaktlinsenanpassung in diesem Alter beschrieben. Weiters wird auf die Amblyopiebehandlung, die verschiedenen Formen des bei den aphaken Kindern aufgetretenen Strabismus and dessen Therapie eingegangen. Ergebnisse: Eine optische Korrektur der Aphakie war in fast alien Fallen mit Kontaktlinse oder Brille gut moglich. Die visuellen Ergebnisse waren bei beidseitiger Aphakie deutlich besser als bei einseitiger, zum grollten Teil abhangig vom Zeitpunkt der Kataraktoperation and der Compliance bei Kontaktlinsen — oder Brillenkorrektur and der Amblyopiebehandlung. Die erforderlichen Schieloperationen waren in fast allen Fallen erfolgreich, ein Stereosehen konnte aber in keinem Fall erreicht werden. Schlussfolgerungen: Die visuelle Rehabilitation bei Kindern unter 18 Monaten, nach Operation einer kongenitalen Katarakt mittels Kontaktlinse oder Brille, ist noch immer gut moglich, auch wenn in Zukunft Kontaktlinse and Brille immer mehr durch Linsen-Implantation auch in diesem Alter ersetzt werden. Zu einem guten Gelingen tragt nicht nur die optische Korrektur, sondern auch die Amblyopiebehandlung and eine eventuell erforderliche Schieloperation bei.

The 125th ENMC International Workshop was a follow-up on the previous ENMC Workshop on Neuromuscular Disorders in Gypsies, which took place in March 2001. The unique feature of both meetings was their focus on a specific population, rather than on a specific disease, and on the contribution of this population to our general understanding of neuromuscular pathology. In the 7 years that followed the first reports on neuromuscular disorders (NMDs) in Gypsies [1,2], growing interest has resulted in over 40 publications, describing novel disorders, founder mutations, and genotype–phenotype correlations.

We report on a 10‐year‐old girl with tricho‐rhino‐phalangeal syndrome type II (TRPS II) and pronounced short stature (−4.8 SD). The patient has an interstitial chromosome 8q24.1 deletion of 12–15 Mb. The deletion spans all genes from CSMD3 to at least ANXA13 including the TRPS1 and EXT1 genes, which are responsible for the TRPS II phenotype. In addition to the features of TRPS II, the patient had growth hormone (GH) deficiency with diminished response in three stimulation tests. Therapy with 0.2 mg GH/kg/week led to an increase of growth velocity from 2.5 to 6.6 cm/year. To our knowledge, such a combination of TRPS II and GH deficiency has not yet been described. © 2004 Wiley‐Liss, Inc.

Purpose: To determine the significance of persistent fetal vasculature (PFV) and remnants of fetal vessels in the pathogenesis of pediatric unilateral cataracts.Study Design: Prospective observational case series.Participants: Thirty-one children with unilateral cataract aged between 2 weeks and 15 years.Methods: As part of an ongoing prospective clinical trial concerning treatment and etiology of pediatric cataracts, a subgroup of 31 children with unilateral cataracts was defined. The affected eyes received preoperative and intraoperative biomicroscopic examinations to identify characteristic features of PFV and even minimal fetal vascular remnants (MFVRs) at the level of the posterior lens capsule and anterior hyaloid face. In eyes with MFVRs, 3 different severity degrees were assumed, according to different posterior capsule abnormalities: mild, A; moderate, B; and severe, C. All observations were documented on video and analyzed in relation to age (group I, infants between 0 and 1.5 years; group II, preschool children between 1.6 and 5.9 years; group III, schoolchildren between 6 and 16 years).Main Outcome Measures: Frequency and morphology of characteristic features of PFV and MFVRs of the posterior lens capsule/anterior hyaloid face, lens clouding, and microphthalmos.Results: All 31 eyes with unilateral congenital cataracts showed signs of PFV syndrome (100%). Characteristic features of PFV were found in 75% of group I eyes, in 8% of group II eyes, and in 67% of group III eyes. Minimal fetal vascular remnants were found in 25% of group I eyes (severity degree C in all eyes), in 92% of group II eyes (severity degree A in 36.4%, B in 27.2%, and C in 36.4%), and in 33% of group III eyes (severity degree A). Associated microphthalmos was found in all eyes in groups I and III and in 73% of group II, whereas axial lengths were equal in both eyes in 27% of group II children with MFVRs.Conclusions: Varying degrees of PFV seem to be a frequent cause of unilateral congenital cataracts. Although characteristic features of PFV occurred mainly in infants, eyes of preschool children were usually very mildly affected, showing MFVRs that were detected only by careful observation during surgery. Abnormalities of the central part of the posterior capsule, such as a translucent opacity or a lenticonic area leading to a spontaneous hole during lens aspiration, may be caused by minimal remnants of PFV. Ophthalmology 2004;111: 906-913 (C) 2004 by the American Academy of Ophthalmology.

Purpose: To document in detail the surgical management challenges over the wide spectrum of persistent fetal vasculature syndrome (PFVS).Setting: Department of Ophthalmology, University of Vienna, Medical School, Vienna, Austria.Methods: As part of an ongoing prospective clinical trial of the treatment and etiology of pediatric cataract, a subgroup of 31 children with unilateral cataract was defined. Standard surgical techniques were used based on age. Group 1 comprised infants between 0 and 1.5 years; Group 2, preschool children between 1.6 and 5.9 years; and Group 3, school-aged children between 6 and 16 years. Additional surgical procedures were used based on the degree of PFVS.Results. All 31 eyes with unilateral cataract showed signs of PFVS. Characteristic features were found in 75% of eyes in Group 1, 8% of eyes in Group 2, and 67% of eyes in Group 3. Minimal fetal vascular remnants were found in 92%, 25%, and 33%, respectively. Correct diagnosis of PFVS was made preoperatively in 56% of eyes in Group 1, 8% in Group 2, and 67% in Group 3. Surgical procedures in addition to standard age-related techniques were necessary in all eyes with unilateral cataract.Conclusions: Results indicate that varying degrees of PFVS are a frequent cause of unilateral congenital cataract. Most severe cases were in infants, and preschool children were usually mildly affected. Vitreoretinal complications may lead to challenges in the surgical management in infants. In preschool children, cataract surgery must be performed in a guarded fashion because of the high risk for preexisting posterior capsule breaks due to minimal fetal vascular remnants.

To determine the significance of persistent fetal vasculature (PFV) and remnants of fetal vessels in the pathogenesis of pediatric unilateral cataracts.Prospective observational case series.Thirty-one children with unilateral cataract aged between 2 weeks and 15 years.As part of an ongoing prospective clinical trial concerning treatment and etiology of pediatric cataracts, a subgroup of 31 children with unilateral cataracts was defined. The affected eyes received preoperative and intraoperative biomicroscopic examinations to identify characteristic features of PFV and even minimal fetal vascular remnants (MFVRs) at the level of the posterior lens capsule and anterior hyaloid face. In eyes with MFVRs, 3 different severity degrees were assumed, according to different posterior capsule abnormalities: mild, A; moderate, B; and severe, C. All observations were documented on video and analyzed in relation to age (group I, infants between 0 and 1.5 years; group II, preschool children between 1.6 and 5.9 years; group III, schoolchildren between 6 and 16 years).Frequency and morphology of characteristic features of PFV and MFVRs of the posterior lens capsule/anterior hyaloid face, lens clouding, and microphthalmos.All 31 eyes with unilateral congenital cataracts showed signs of PFV syndrome (100%). Characteristic features of PFV were found in 75% of group I eyes, in 8% of group II eyes, and in 67% of group III eyes. Minimal fetal vascular remnants were found in 25% of group I eyes (severity degree C in all eyes), in 92% of group II eyes (severity degree A in 36.4%, B in 27.2%, and C in 36.4%), and in 33% of group III eyes (severity degree A). Associated microphthalmos was found in all eyes in groups I and III and in 73% of group II, whereas axial lengths were equal in both eyes in 27% of group II children with MFVRs.Varying degrees of PFV seem to be a frequent cause of unilateral congenital cataracts. Although characteristic features of PFV occurred mainly in infants, eyes of preschool children were usually very mildly affected, showing MFVRs that were detected only by careful observation during surgery. Abnormalities of the central part of the posterior capsule, such as a translucent opacity or a lenticonic area leading to a spontaneous hole during lens aspiration, may be caused by minimal remnants of PFV.

PURPOSE:To evaluate the prevalence and severity of posterior capsule opacification (PCO) in pediatric eyes with a foldable acrylic AcrySof (Alcon) intraocular lens (IOL) and age-related surgical methods. SETTING:Department of Ophthalmology, University of Vienna, Medical School, Vienna, Austria. METHODS:This prospective randomized study comprised 50 eyes of 34 children aged between 2 and 16 years. Eyes of children between 2 and 5.9 years were consecutively randomized to Group 1a (primary posterior capsulotomy and anterior vitrectomy) or Group 1b (optic capture in addition). Eyes of children between 6 and 16 years were consecutively randomized to Group 2a (primary posterior capsulotomy without anterior vitrectomy), Group 2b (optic capture in addition), or Group 2c (in-the-bag IOL implantation without opening the posterior capsule). Main outcome parameters were the incidence and severity of PCO formation, early postoperative complications, pigmented cell deposits on the IOL surface, and cataract morphology. RESULTS:The visual axis was clear at the last follow-up in all eyes in Groups 1a, 1b, 2a, and 2b except in 1 eye in Group 1a. Sixty-percent of eyes in Group 2c had PCO. The incidence of early postoperative complications was significantly higher in eyes that developed PCO than in those that maintained a clear visual axis. There was no evidence that cataract morphology influenced PCO rates. CONCLUSIONS:The AcrySof IOL was well tolerated in pediatric eyes. Optic capture was not necessary to ensure a clear visual axis. Primary posterior capsulotomy should be performed in preschool and uncooperative children and in eyes expected to have relatively high postoperative inflammation. Implanting the AcrySof in the bag and leaving the posterior capsule intact is acceptable for school children and juveniles with isolated developmental cataract.

We report an 11-year-old girl who presented with a painless unilateral enlargement of the nasal bridge. Because of multiple café-aulait spots and a positive family history, neurofibromatosis 1 was diagnosed. On a computed tomographic scan, a unilocular radiolucency measuring 1.2 × 2 cm was seen in the anterior wall of the maxillary sinus, which was surgically removed. Histology revealed a central giant cell granuloma. Hyperparathyroidism, which can present with an osseous tumor and similar histology, was excluded. Molecular analysis uncovered a novel splice mutation (A4268G) in this neurofibromatosis 1 family, affecting our patient as well as her mother and brother. This article focuses on the variability of the neurofibromatosis 1 phenotype in this family and the possible relationship between central giant cell granuloma and neurofibromatosis 1. (J Child Neurol 2003;18:371—373).

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome (OMIM 604168) is an autosomal recessive developmental disorder that occurs in an endogamous group of Vlax Roma (Gypsies; refs. 1 – 3 ). We previously localized the gene associated with CCFDN to 18qter, where a conserved haplotype suggested a single founder mutation 4 . In this study, we used recombination mapping to refine the gene position to a 155-kb critical interval. During haplotype analysis, we found that the non-transmitted chromosomes of some unaffected parents carried the conserved haplotype associated with the disease. Assuming such parents to be completely homozygous across the critical interval except with respect to the disease-causing mutation, we developed a new 'not quite identical by descent' (NQIBD) approach, which allowed us to identify the mutation causing the disease by sequencing DNA from a single unaffected homozygous parent. We show that CCFDN is caused by a single-nucleotide substitution in an antisense Alu element in intron 6 of CTDP1 (encoding the protein phosphatase FCP1, an essential component of the eukaryotic transcription machinery 5 , 6 ), resulting in a rare mechanism of aberrant splicing and an Alu insertion in the processed mRNA. CCFDN thus joins the group of 'transcription syndromes' 7 and is the first 'purely' transcriptional defect identified that affects polymerase II–mediated gene expression.

Septo-optic dysplasia (SOD) comprises ophthalmological, endocrinological and neurological disorders resulting from varying degrees of midline malformation of the forebrain like visual impairment by optic nerve hypoplasia, endocrine deficits due to hypothalamic and/or pituitary anomalies, and psychomental retardation by associated cortical malformation. MRI shows aplasia/hypoplasia of the septum pellucidum and corpus callosum as a radiological hallmark. For etiology, genetic defects (Hesx1/HESX1 gene) as well as vascular disruption during embryonic brain development are discussed. Aim: To perform detailed analysis of morphological findings and clinical symptoms and to improve care of SOD patients by interdisciplinary management. Patients: We investigated 25 patients with a mean age of 5.1 years at diagnosis. Results: Pituitary insufficiency was present in 11/25 patients, multiple deficits in 6 of them. Bilateral optic nerve hypoplasia was found in 70% of patients, unilateral in 20%. Mild or moderate neurological disorders were observed in the majority of patients (14/20), EEG was usually normal (12/19). Analysis of MRI films revealed very heterogeneous morphological anomalies, ranging from isolated agenesis of the septum pellucidum to multiple malformations, involving the cortex. Malrotation of the hippocampal structures was a common finding. Conclusion: We conclude that only interdisciplinary management of SOD patients can ameliorate the exact diagnosis and outcome, depending on early visual or developmental support as well as early diagnosis and substitution of potentially life-threatening endocrine deficits.

Abstract Trichotillomania is a relatively uncommon condition that classically occurs in young females. It can result in trichobezoar formation, which is usually managed successfully by surgical intervention, although rarely it can be fatal. This article presents a brief review of trichotillomania. A literature search was performed for ‘trichotillomania’ using the PubMed database, and relevant papers and their references were researched. This review commences by defining the condition and considering its presentation and its prevalence. Diagnostic dilemmas including differential diagnosis and the uncertainty about structural abnormalities in the brain as indicated by magnetic resonance imaging findings are then reviewed. Finally we examine the current treatment options of this interesting condition.

Unter dem Begriff „Auditory pigmentary syndromes“ werden unterschiedliche Krankheitsbilder zusammengefasst, denen die Abwesenheit von Melanozyten in Augen, Haut, Haaren und in der Stria vascularis der Cochlea des Innenohrs zugrundeliegt. Autosomal dominant vererbte Formen mit fleckförmiger Depigmentation werden als „Waardenburg Syndrome“ bezeichnet. Während die Waardenburg Syndrome (WS) Typ 1, Typ 3 und Typ 4 klinisch und genetisch klar definiert sind (PAX3 Genbzw. EDNRB/EDN3 Gen-Mutationen), ist das WS Typ 2 eine sehr heterogene Gruppe. MITF (microphthalmia-associated transcription factor) Gen Mutationen konnten in 10% von WS Typ 2 Patienten nachgewiesen werden, aber für die meisten Fälle ist der genetische Hintergrund noch unklar. Die bisher erstellten diagnostischen Kriterien für WS Typ 2 umfassen neben kongenitaler Innenohrschwerhörigkeit auch Pigmentstörungen der Iris, der Haut und der Haare — aber nicht des Fundus.

Purpose: To assess the cellular reaction on the anterior surface of 4 types of foldable intraocular lenses (IOLs).Setting: Department of Ophthalmology, University Hospital of Vienna, Vienna, Austria.Methods: One hundred eyes scheduled for cataract surgery were prospectively randomized into 4 groups of 25 eyes each using random number tables. Group 1 received a Hydroview (TM) IOL (Bausch & Lomb), Group 2 an AcrySof (R) IOL (Alcon), Group 3 a MemoryLens (R) IOL (ORC), and Group 4 a CeeOn (R) 920 IOL (Pharmacia). Patients were examined 1, 3, 7, 30, 90, and 180 days postoperatively. Postoperative biomicroscopic examinations were done with a slitlamp, and a specular microscope was used to document the presence of cell deposits and identify areas with the highest density of cells.Results: The local tissue response revealed 2 patterns: a nonspecific foreign-body reaction to the IOL (small round, fibroblast-like, epithelioid, and giant cells) and a lens epithelial cell (LEC) reaction. The highest incidence of LECs was in the Hydroview group, in which LECs were present on 81.8% of lenses 180 days postoperatively. During the first postoperative days, small round and fibroblast-like cells were found on all IOLs. From 7 days on, the incidence and density of these cells were less severe in the Hydroview and CeeOn 920 groups. After several weeks, epithelioid cells and foreign-body giant cells were seen on some IOLs. These cells appeared more often on AcrySof, MemoryLens, and CeeOn IOLs.Conclusion: This study found IOL-related differences in cellular reaction after cataract surgery. The incidence of a nonspecific foreign-body reaction to 4 IOLs is consistent with the results of previous studies. The incidence of LECs was highest in the Hydroview group and lowest in the ActySof group. The CeeOn 920 group had the lowest incidence of all types of cells.

PURPOSE:(a) To show that high-altitude retinopathy (HAR) is common at high altitudes even in well-acclimatised climbers and that it should not be regarded as part of the spectrum of benign mountain sickness but rather as a clinical sign with a separate aetiology. (b) To test the hypothesis that HAR could be interpreted as a clinical expression of 'ocular vascular dysregulation'.METHODS:Both eyes of the 8 mountaineers of the First Vienna Himalayan Expedition in May/June 1996 were examined 2 weeks before departure to and 2 weeks after descent from a high altitude. Retinal blood flow was measured in the right eyes of 7 climbers, using the Heidelberg Retina Flowmeter (HRF).RESULTS:Two of the 8 climbers had bilateral retinal haemorrhage after the expedition. In 5 climbers chronic hypoxic exposure caused an increase in retinal blood flow between +18% and +96%, and in 2 climbers a decrease in retinal blood flow between -21% and -31%. The 2 climbers (climbers 1 and 2) with bilateral retinal haemorrhage showed a significant increase in HRF parameters.CONCLUSIONS:HAR may be a clinical sign of mountaineers with a tendency towards ocular vascular dysregulation. The pronounced increase in all haemodynamic parameters in the 2 climbers with retinal haemorrhage combined with a dilated epipapillary network 2 weeks after the exposure reflects a retinal vessel configuration, as might be expected at high altitudes under acute hypoxic stress. An inadequate autoregulatory response of the retinal circulation under conditions of chronic hypoxia may play an important part in the pathogenesis of HAR.

Purpose To determine the long-term function of the blood-aqueous barrier after small-incision cataract surgery with implantation of a foldable intraocular lens.Methods The blood-aqueous barrier function in 74 eyes of 62 patients who underwent cataract surgery was examined using a laser flare-cell meter. The measurements were performed pre-operatively and postoperatively between 12 and 35 months after surgery. For statistical analysis a linear regression was used. The study was designed as a single cohort study, with comparison of pre- and post-operative values.Results Highly statistically significant differences (p < 0.0001) were found between pre-operative flare values and those measured at the final visit. The linear regression model showed significantly higher flare values postoperatively compared with those measured pre-operatively. Other variables such as incision technique, sex, operation time, phaco time and systemic disease had no influence on this outcome.Conclusion The results suggest that there is persistent blood-aqueous barrier dysregulation even several years after cataract surgery.