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Leber's congenital amaurosis: an update. 2003

Elisa Fazzi, and Sabrina Giovanna Signorini, and Barbara Scelsa, and Stefania Maria Bova, and Giovanni Lanzi
Department of Child Neurology and Psychiatry, IRCCS C Mondino Foundation-Institute of Neurology, University of Pavia, Italy. efazzi@unipv.it

Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss of vision at birth. It accounts for 10-18% of cases of congenital blindness. Some patients exhibit only blindness of retinal origin whereas others show evidence of a multi-systemic involvement. We review the literature relating to this severe disorder, highlighting unresolved questions, in particular the nature of the association of LCA with mental retardation and with systemic findings and syndromic pictures. In recent years, genetic advances in the diagnosis of LCA have opened up new horizons, also from a therapeutic point of view. A better understanding of this pathology would be valuable for paediatric neurologists.

UI MeSH Term Description Entries
D008607 Intellectual Disability Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D001766 Blindness The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE. Amaurosis,Bilateral Blindness,Blindness, Bilateral,Blindness, Legal,Blindness, Monocular,Blindness, Unilateral,Sudden Visual Loss,Unilateral Blindness,Blindness, Acquired,Blindness, Complete,Blindness, Hysterical,Blindness, Transient,Acquired Blindness,Amauroses,Bilateral Blindnesses,Complete Blindness,Hysterical Blindness,Legal Blindness,Monocular Blindness,Sudden Visual Losses,Transient Blindness,Visual Loss, Sudden
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013239 Stereotyped Behavior Relatively invariant mode of behavior elicited or determined by a particular situation; may be verbal, postural, or expressive. Behavior, Stereotyped,Behaviors, Stereotyped,Stereotyped Behaviors
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D029242 Optic Atrophy, Hereditary, Leber A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001)) Leber Hereditary Optic Atrophy,Hereditary Optic Neuroretinopathy,Leber Hereditary Optic Neuropathy,Leber Optic Atrophy,Leber Optic Atrophy and Dystonia,Leber's Disease,Leber's Hereditary Optic Atrophy,Leber's Hereditary Optic Neuropathy,Leber's Optic Atrophy,Leber's Optic Neuropathy,Optic Atrophy, Leber Type,Optic Atrophy, Leber, Hereditary,Disease, Leber's,Diseases, Leber's,Hereditary Optic Neuroretinopathies,Leber Disease,Leber Optic Neuropathy,Leber's Diseases,Lebers Disease,Lebers Optic Neuropathy,Neuropathy, Leber's Optic,Neuroretinopathies, Hereditary Optic,Neuroretinopathy, Hereditary Optic,Optic Atrophy, Leber,Optic Neuropathy, Leber's,Optic Neuroretinopathies, Hereditary,Optic Neuroretinopathy, Hereditary

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