PubMed · 14833804
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D CARTER. 1951-05-03. Visual training sans technician.. https://pubmed.ncbi.nlm.nih.gov/14833804/
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Leber 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.
PURPOSE: To report an unusual, blinding inflicted eye injury in young children. DESIGN: Observational case report. METHODS: Retrospective study in an institutional clinical practice of two families in whom the probands had inferior half keratoconjunctivitis and additional signs of child abuse. RESULTS: Two unrelated infants presented with bilateral, asymmetrical, external eye disease affecting the lower half of the cornea and conjunctiva. One eye had perforated. All eyes recovered quickly while the patients were in the hospital with no specific treatment. There were other signs of child abuse detected by further studies on the patients, and in one case, the younger sibling was the subject of severely damaging physical abuse. CONCLUSIONS: Inflicted corneal injuries are nonspecific, and unexplained keratoconjunctivitis, especially in the lower half of the conjunctiva and cornea in infants should alert the clinician to the possibility child abuse, but, by itself cannot be taken as being pathognomonic of abuse.
A 4-year-old male presented with acute disseminated encephalomyelitis with seizures and transient amaurosis after initial symptoms of a flulike febrile infection 1 week earlier. Immunoglobulin M type antibody titers against Mycoplasma pneumoniae were significantly increased in serum and cerebrospinal fluid. The patient improved appreciably on immunosuppressive therapy with immunoglobulin. This patient exemplifies a rare case of acute disseminated encephalomyelitis presenting with bilateral transient amaurosis as a complication of M. pneumoniae infection. Aydin A, Atasever S, Cakmakci H. Acute disseminated encephalomyelitis presenting with bilateral transient amaurosis.