Elisabeth Moser

Usefulness of Losartan on the Size of the Ascending Aorta in an Unselected Cohort of Children, Adolescents, and Young Adults With Marfan Syndrome

Since 2008, when angiotensin II type I receptor blockade with losartan was introduced in the prevention of cardiovascular manifestation of Marfan syndrome (MFS), a specific treatment to address the cardiovascular lesions became available. The present study aimed to compare the response of such in an unselected cohort of patients with genotyped MFS. At a tertiary university childrens hospital, 20 pediatric and adolescent patients aged 1.7 to 21.6 years with genetically proven MFS were enrolled in a prospective treatment study of losartan for evaluation of the aortic dimensions and elasticity indexes. The mean follow-up period was 33 ± 11 months. A significant reduction in the normalized aortic dimensions with losartan was observed in the valve, root, sinotubular junction, and ascending aortic segments (p = 0.008, p <0.001, p = 0.012, and p = 0.001, respectively). No correlation between elasticity behavior and the decrease in the aortic dimension with losartan therapy was detectable. A significant correlation between stronger improvement and younger age at onset (r = 0.643, p = 0.002) and a longer therapy duration (r = -0.532, p = 0.016) was verifiable. However, no correlation between improvement with therapy and the type of mutation or presentation of clinical forms was remarkable. Elasticity also seemed to improve but not significantly. In conclusion, in our cohort of young patients with MFS, a significant improvement with losartan monotherapy was proved in all affected proximal aortic segments, with a better response to therapy when started at an earlier age and with a longer therapy duration.

MORPHOLOGICAL AND FUNCTIONAL RESULTS OF ACRYSOF INTRAOCULAR LENS IMPLANTATION IN CHILDREN: PROSPECTIVE RANDOMIZED STUDY OF AGE-RELATED SURGICAL MANAGEMENT

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.

Waardenburg syndrome type 2 in a Turkish family: implications for the importance of the pattern of fundus pigmentation

Editor,—Waardenburg syndrome (WS) is a typical auditory pigmentary syndrome with affected individuals showing varying combinations of sensorineural hearing loss, patchy abnormal pigmentation of the eyes, hair and skin, and various defects of neural crest derived tissues.1-3 This syndrome is both clinically and genetically heterogeneous and is clinically classified into four types.3 Mutations of the PAX3 gene have been identified in WS type 1 and 3, while those of either the endothelin B receptor gene, the endothelin-3 gene or the soxio gene have been identified in WS type 4.4-6 WS type 2 is a heterogeneous group, with about 10% of cases caused by mutations in MITF . But MITF mutations are obviously not the major cause of WS type 2 and for most cases the genetic basis is as yet unknown. The diagnostic criteria for WS type 2 proposed by Liu et al 1 include, in addition to congenital sensorineural hearing loss and pigmentary disturbances of the hair, pigmentary disturbances of the iris but not of the fundus. In the two affected boys of the Turkish family presented here, the pattern of fundus pigmentation was one of the most striking clinical features, with dense hyperpigmented areas next to hypopigmented areas. We want to emphasise the importance of a thorough observation of the clinical phenotype and especially of the pattern of fundus pigmentation in WS type 2. ### CASE REPORT A Turkish family presented with two of three sons showing clinical symptoms of WS type 2. Firstly, the 5 year old boy, the youngest of three children of a non-consanguineous couple, was referred for ophthalmological evaluation because of constant esotropia in the left eye. The child has worn hearing aids since the age of 16 months; the first reliable audiogram at age 3 years showed profound sensorineural hearing loss which …

Surgery in unilateral congenital cataract caused by persistent fetal vasculature or minimal fetal vascular remnants: age-related findings and management challenges.

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.

Twin–twin transfusion syndrome as a possible risk factor for the development of retinopathy of prematurity

PurposeThe 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.MethodsFifty-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.ResultsInfants 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 significantly higher than that of infants with ROP who were not affected by TTTS (p = 0.01). Multiple pregnancy itself was not a risk factor for ROP disease.ConclusionsInfants affected by TTTS during pregnancy are at high risk of developing ROP, even if they were born at an older gestational age. Special awareness in ROP screening is necessary for these infants.

Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family

Background and aim To describe the clinical and genetic characteristics of a mother and her son presenting with two distinct and rare forms of retinal degeneration. Methods 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. Results The clinical course and typical ERG pattern indicated a ‘cone dystrophy with supernormal rod electroretinogram’ 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>A (p.Ala261Asp) mutation in KCNV2. Her sons 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. Conclusions 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.