Papers by Elisabeth Moser
Spektrum der Augenheilkunde, 2005
Problemstellung: Die visuelle Rehabilitation nach Operation einer kongenitalen emn-oder beidseiti... more Problemstellung: Die visuelle Rehabilitation nach Operation einer kongenitalen emn-oder 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.
Spektrum der Augenheilkunde, 2005
Problemstellung: Die visuelle Rehabilitation nach Operation einer kongenitalen emn-oder beidseiti... more Problemstellung: Die visuelle Rehabilitation nach Operation einer kongenitalen emn-oder 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.
Neurology, Jan 7, 2014
We describe the 10-year follow-up in a cohort of 16 patients with genetically confirmed congenita... more We describe the 10-year follow-up in a cohort of 16 patients with genetically confirmed congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) syndrome, providing new insights in the clinical course of the disease. We performed a detailed clinical and paraclinical characterization and 10-year follow-up study in 16 patients with molecularly defined CCFDN syndrome, illustrating that CCFDN is a severe disabling disorder. All patients initially presented with congenital cataracts along with strabismus, facial dysmorphism, short stature, and demyelinating neuropathy. In all patients, paresis of small hand muscles and foot extensors worsened with disease progression, while ataxia scores remained stable or improved. Nerve conduction velocity was normal in early infancy up to 18 months, decreased to approximately 20 m/s around age 10 years, and then remained stable; distal motor latency was prolonged. Sensory nerve conduction velocities were slowed, and initially of normal amplitu...
Spektrum der Augenheilkunde, 2000
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie, 2015
The objective of this study was to evaluate the correlation between twin-twin transfusion syndrom... more The objective of this study was to evaluate the correlation between twin-twin transfusion syndrome (TTTS) and the development of retinopathy of prematurity (ROP) in premature infants. Fifty-one infants who were less than 32 postmenstrual gestational weeks at birth or with a birth weight less than 1,501grams were included in this longitudinal observational study. The infants were matched by gestational age and birth weight, and divided into three groups: multiples with TTTS, multiples without TTTS, and singletons. The primary outcome variable was the incidence of ROP in infants affected by TTTS versus infants not affected by TTTS. Secondary outcome variables were multiple pregnancy, gestational age, and birth weight. Infants affected by TTTS showed a significantly higher incidence of ROP than infants not affected by TTTS (p < 0.01). TTTS donors and TTTS recipients were both at greater risk of developing ROP. ROP occurred in infants with TTTS whose gestational age at birth was sign...
Spektrum der Augenheilkunde, 2001
Unter dem Begriff "Auditory pigmentary syndromes" werden unterschiedliche Krankheitsbilder zusamm... more 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 Gen-bzw. 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.
Spektrum der Augenheilkunde, 1996
Zusammenfassung Nach Schieloperationen treten Veränderungen des Astigmatismus relativ häufig auf... more Zusammenfassung Nach Schieloperationen treten Veränderungen des Astigmatismus relativ häufig auf. Aus diesem Grund ist eine sorgfältige postoperative Refraktionsbestimmung von besonderer Bedeutung. 59 Patienten (&gt; 90% Kinder), die im Jahr 1993 an den horizontalen Augenmuskeln schieloperiert wurden, bezogen wir in diese Studie ein. Die nicht operierten Augen dieser Patienten wurden als Kontrollgruppe verwendet. Wir verglichen die prä — und postoperativ mit Skiaskopie und dem Autorefraktometer bestimmte Refraktion. Postoperativ wurden nur die nach mindestens 4 1/2 Monaten gemessenen Werte verwendet. Nach dieser Zeitspanne ist der entstandene Astigmatismus nicht mehr rückbildungsfähig [1]. An den operierten Augen zeigten sich häufiger und höhere neu aufgetretene Astigmatismen als an den nicht operierten. Summary In a series of 66 strabismus-surgeries the increase of astigmatism in the operated eyes was compared to the non-operated fellow eyes. A highly significant increase could be proven in the group of newly developed astigmatisms higher than 0.5 diopters. The relevance of the postoperative retinoscopy several months following the surgery is mentioned.
Ophthalmology, 2004
To determine the nature and course of ophthalmologic abnormalities in congenital cataracts facial... more To determine the nature and course of ophthalmologic abnormalities in congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome in a genetically verified group of 9 patients. Observational case series. Nine affected male individuals of 5 pedigrees aged 1.3 to 16.8 years were examined. Four individuals were recruited during an ongoing prospective study of congenital cataracts; 5 individuals could be assigned to the CCFDN group on the basis of our retrospective data. Linkage and haplotype analysis, neurologic examinations, bilateral cataracts, axial length, corneal diameter, pupil diameter and pupillary reactions, intraoperative and postoperative complications, lid changes, aphakic correction problems, refractive results, and visual function. All families originated from the eastern part of Serbia, close to the border with Romania. The 8 tested individuals were homozygous for the conserved ancestral CCFDN haplotype in the telomeric region of chromosome 18q. All patients showed a peripheral, demyelinating neuropathy and varying degrees of ataxia. In the older patients, muscular atrophy in distal muscles and facial dysmorphism was evident. Early-onset bilateral congenital cataracts associated with microcornea, microphthalmos, and micropupil could be found in all patients. All children had floppy eyelid syndrome and pseudoptosis. An increased inflammatory reaction to contact lenses and intraocular lenses could be documented in all. All patients had syndrome-associated nystagmus and congenital esotropia. Distant visual acuity could be classified as severe to moderate impairment, whereas near visual acuity was much better (mild to moderate impairment). Early-onset congenital cataracts associated with microcornea, microphthalmos, and micropupil are essential ocular features of the CCFDN syndrome and are the first recognizable signs during early infancy. Awareness of this syndrome by pediatric ophthalmologists is important, because these typical findings, combined with information on ethnic origin, may lead to very early diagnosis at an age when the nature and severity of nonophthalmologic features are not apparent. Affected individuals may benefit from careful ophthalmologic treatment and follow-up, as well as from early management of the neurologic problems and developmental delay. Affected families will benefit from genetic counseling and predictive testing.
Ophthalmology, 2004
To determine the significance of persistent fetal vasculature (PFV) and remnants of fetal vessels... more 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.
Klinische Monatsblätter für Augenheilkunde, 1987
Journal of Cataract & Refractive Surgery, 2003
To evaluate the prevalence and severity of posterior capsule opacification (PCO) in pediatric eye... more 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. Department of Ophthalmology, University of Vienna, Medical School, Vienna, Austria. 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. 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. 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.
Journal of Cataract & Refractive Surgery, 2004
To document in detail the surgical management challenges over the wide spectrum of persistent fet... more To document in detail the surgical management challenges over the wide spectrum of persistent fetal vasculature syndrome (PFVS).
British Journal of Ophthalmology, 2013
To describe the clinical and genetic characteristics of a mother and her son presenting with two ... more To describe the clinical and genetic characteristics of a mother and her son presenting with two distinct and rare forms of retinal degeneration. Investigations in both patients comprised spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence imaging, non-contact biometry, ultrasonography, electroretinography (ERG) and analysis of the mutational status of the KCNV2 and MFRP genes in genomic DNA. The clinical course and typical ERG pattern indicated a &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;cone dystrophy with supernormal rod electroretinogram&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; in the proband, and SD-OCT demonstrated a subfoveal optical gap with loss of the inner segment/outer segment junction line. The proband was homozygous for a c.782C&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A (p.Ala261Asp) mutation in KCNV2. Her son&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s axial length was shortened with refractive errors of +16.75 dioptres in the right and +14.0 dioptres in the left eye; ERG evidenced a rod-cone dystrophy, OCT showed central macular thickening with cystoid changes and ultrasonography revealed optic disc drusen. MFRP analysis disclosed a 1 bp deletion (c.498delC) that predicts a truncated protein. Two distinct ocular phenotypes with pathogenic mutations in two different genes segregated in this family. The coexistence of two independent autosomal recessive disorders should be considered even when dealing with diseases that bear low carrier frequencies in the general population.
The American Journal of Human Genetics, 2004
Cohen syndrome is a rare autosomal recessive disorder with a variable clinical picture mainly cha... more Cohen syndrome is a rare autosomal recessive disorder with a variable clinical picture mainly characterized by developmental delay, mental retardation, microcephaly, typical facial dysmorphism, progressive pigmentary retinopathy, severe myopia, and intermittent neutropenia. A Cohen syndrome locus was mapped to chromosome 8q22 in Finnish patients, and, recently, mutations in the gene COH1 were reported in patients with Cohen syndrome from Finland and other parts of northern and western Europe. Here, we describe clinical and molecular findings in 20 patients with Cohen syndrome from 12 families, originating from Brazil, Germany, Lebanon, Oman, Poland, and Turkey. All patients were homozygous or compound heterozygous for mutations in COH1. We identified a total of 17 novel mutations, mostly resulting in premature termination codons. The clinical presentation was highly variable. Developmental delay of varying degree, early-onset myopia, joint laxity, and facial dysmorphism were the only features present in all patients; however, retinopathy at school age, microcephaly, and neutropenia are not requisite symptoms of Cohen syndrome. The identification of novel mutations in COH1 in an ethnically diverse group of patients demonstrates extensive allelic heterogeneity and explains the intriguing clinical variability in Cohen syndrome.
American Journal of Ophthalmology, 2015
To evaluate inter-expert and intra-expert agreement on the diagnosis and treatment of retinopathy... more To evaluate inter-expert and intra-expert agreement on the diagnosis and treatment of retinopathy of prematurity (ROP). Prospective intra- and inter-rater reliability analysis. In this multicenter study, 260 wide-field digital photographs of 52 patients were presented to 7 recognized ROP experts on 2 consecutive assessment days 8 weeks apart. Experts were asked to assess the patients for ROP stage, presence of plus disease, presence of aggressive posterior ROP, necessity for treatment, and suggested treatment. Agreement levels were measured with Fleiss&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; kappa and Cohen&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s kappa. Inter-expert agreement was fair for the ROP stage (κ = 0.24), plus disease (κ = 0.32), and aggressive posterior ROP (κ = 0.35); moderate for the necessity for treatment (κ = 0.41); and fair for the kind of treatment (κ = 0.38). Perfect inter-expert agreement was found in 9.6% of all patients for ROP stage 0-5, 45.1% for ≥ stage 2 ROP, 17.3% for plus disease, 57.7% for aggressive posterior ROP, and 25% for the necessity for treatment. Intra-expert agreement was higher than inter-expert agreement and was moderate for the ROP stage (κ = 0.56) and plus disease (κ = 0.51), moderate to substantial for aggressive posterior ROP (κ = 0.60), moderate for the necessity for treatment (κ = 0.47), and substantial for the kind of treatment (κ = 0.63). ROP diagnosis and treatment decisions differ between experts and by 1 expert made on different days, indicating that the grading process is subjective and there is an observer bias when diagnosing ROP. These results could influence current practice in ROP assessment and training, and prompt further refinement of international ROP guidelines.
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Papers by Elisabeth Moser