227 research outputs found
Towards improved clinical characterization of Leber congenital amaurosis: neurological and systemic findings.
No full textLeber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy that presents in infancy. LCA is both clinically and genetically heterogeneous. The aim of our study was to clarify the clinical aspects of LCA and to contribute to improved characterization of the disorder. We studied 40 children affected by LCA (mean age at first observation: 19 months, range: 8-50 months), who underwent a comprehensive evaluation that included: neurophthalmological evaluation, electroretinogram (ERG), and visual evoked potentials (VEPs), general and neurological examinations, developmental assessment using scales for visually impaired children, neuroradiological examinations, hepatic and renal function and metabolic investigations, brainstem auditory evoked potentials (BAEPs), EEG, and hand radiographs. Analyses of known LCA genes are ongoing. The subjects are still being followed up at 6-/12-month intervals. All the subjects fulfilled De Laey's criteria for LCA. The neurological examination was abnormal in 31 cases (hypotonia, ataxia with/without associated cerebellar signs). Cognitive development was normal in 24 cases, borderline in five, and subnormal in 11. Mild and nonspecific alterations on MRI were present in seven cases, and "molar tooth" sign in four; all the others had a normal neuroradiological picture. Among the subjects presenting with neurological signs, a subgroup (13 patients) emerged that was characterized by systemic (skin, kidney, liver) involvement. Our data confirm that LCA is a heterogeneous entity that can present as an isolated ocular manifestation, or in association with neurological and systemic abnormalities and support the need for a multidisciplinary approach to this entity and for genotype-phenotype studies
Camilla Del Soldato
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Ada Cagli Della Pergola
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Amelia Rosselli Pincherle
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Silvio Spaventa Filippi
No full textThe headword explains the biography and the contribution of the author Silvio Spaventa Filippi to the children's literatur
Giulia Veronica Varisco
No full textThe headword explains the biography and the contribution of the author Giulia Varisco to the children's literatur
Virginia Piatti Tango
No full textThe headword explains the biography and the contribution of the author Virgini a Piatti Tango to the children's literatur
Emilia Salvioni
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Eugenia Graziani Camillucci
No full textThe headword explains the biography and the contribution of the author Eugenia Graziani Camillucci to the children's literatur
Vincenzo Errante
No full textThe headword explains the biography and the contribution of the author Vincenzo Errante to the children's literatur
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