RESUMEN
PURPOSE: Screening of mutations in the paired box 3 (PAX3) gene in three generations of a Turkish family with Waardenburg syndrome type 1 (WS1). METHODS: WS1 was diagnosed in a 13-month-old girl according to the WS Consortium criteria. Detailed family history of the proband revealed eight affected members in three generations. Routine clinical and audiological examination and ophthalmologic evaluation were performed on eight affected and five healthy members of the study family. Dystopia canthorum was detected in all affected patients; however, a brilliant blue iris was present in five patients who also had mild retinal hypopigmentation. Genomic DNA was extracted from the peripheral blood of affected and unaffected individuals in the family as well as 50 unrelated healthy volunteers. All coding exons and adjacent intronic regions of PAX3 were sequenced directly. RESULTS: A novel missense heterozygous c.788T>G mutation was identified in eight patients. This nucleotide alteration was not found in unaffected members of the study family or in the 50 unrelated control subjects. The mutation causes V263G amino-acid substitution in the homeodomain of the PAX3 protein, which represents the 45(th) residue of helix 3. CONCLUSIONS: We identified a novel missense c.788T>G mutation in PAX3 in a family with Waardenburg syndrome with intrafamilial phenotypic heterogeneity.
Asunto(s)
Mutación Missense , Factores de Transcripción Paired Box/genética , Síndrome de Waardenburg/genética , Sustitución de Aminoácidos/genética , Secuencia de Bases , Estudios de Casos y Controles , Análisis Mutacional de ADN , Ojo/patología , Femenino , Tamización de Portadores Genéticos , Humanos , Lactante , Masculino , Factor de Transcripción PAX3 , Linaje , Fenotipo , Turquía , Síndrome de Waardenburg/patologíaRESUMEN
We describe a technique to manage late spontaneous intraocular lens (IOL) and capsular tension ring (CTR) dislocation within the intact capsular bag. The subluxated IOL and CTR complex can be positioned in a closed chamber and fixed to the pars plana at both 3 and 9 o'clock quadrants with the presented ab externo direct scleral suturation technique which provides an easy, safe and effective surgical option for such cases.
Asunto(s)
Migración de Cuerpo Extraño/cirugía , Cápsula del Cristalino/cirugía , Subluxación del Cristalino/cirugía , Lentes Intraoculares/efectos adversos , Facoemulsificación/efectos adversos , Complicaciones Posoperatorias , Estudios de Seguimiento , Migración de Cuerpo Extraño/etiología , Humanos , Subluxación del Cristalino/etiología , Reoperación , Esclerótica/cirugíaRESUMEN
AIM: To document common ocular abnormalities in children with spastic subtype of cerebral palsy (CP) and to find out whether any correlation exists between their occurance and etiologic factors. METHODS: Totally 194 patients with the diagnosis of spastic type CP were enrolled in this retrospective study. Detailed ophthalmic examinations were performed. Demographic data and neuroradiological findings were documented. Kruskal-Wallis, Mann Whitney U, Pearson Chi-square tests and Student's t tests were used in the statistical analysis. RESULTS: The mean age was 64.7±44.2 months on the first ophthalmic examination. Prevalences of diplegia (47.4%) and tetraplegia (36.1%) were found to be higher than the frequency of hemiplegia (16.5%) in our study population. Etiologic factor was asphyxia in 60.8% of the patients. Abnormal ocular findings were present in 78.9% of the patients. Statistically significant poor vision was detected in tetraplegia group among all the spastic ubtypes of CP (P=0.000). Anisometropia and significant refractive error were found in 14.4% and 70.1% of the patients, respectively. Thirty-six children (18.6%) had nystagmus and 107 children (55.2%) had strabismus. Lower gestational age and birth weight were statistically higher in patients with esotropia than exotropia (P=0.009 and P=0.024, respectively). Abnormal morphology of the optic disc was present in 152 eyes (39.2%). Severe periventricular leukomalacia (PVL) was found in 48 patients and statistically significant poor vision was detected in the presence of PVL (P=0.000). CONCLUSION: Spastic diplegic or tetraplegic CP patients with positive neuroradiological symptoms, younger gestational age and lower birth weight ought to have detailed ophthalmic examinations as early as possible to provide best visual rehabilitation.