1/45. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia. The gene encodes a transcriptional regulator that recognizes target genes through its paired-type dna-binding domain. The paired domain is composed of two distinct dna-binding subdomains, the N-terminal subdomain (NTS) and the C-terminal subdomain (CTS), which bind respective consensus dna sequences. The human PAX6 gene produces two alternative splice isoforms that have the distinct structure of the paired domain. The insertion, into the NTS, of 14 additional amino acids encoded by exon 5a abolishes the dna-binding activity of the NTS and unmasks the dna-binding ability of the CTS. Thus, exon 5a appears to function as a molecular switch that specifies target genes. We ascertained a novel missense mutation in four pedigrees with Peters anomaly, congenital cataract, Axenfeldt anomaly, and/or foveal hypoplasia, which, to our knowledge, is the first mutation identified in the splice-variant region. A T-->A transition at the 20th nucleotide position of exon 5a results in a Val-->Asp (GTC-->GAC) substitution at the 7th codon of the alternative splice region. Functional analyses demonstrated that the V54D mutation slightly increased NTS binding and decreased CTS transactivation activity to almost half.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
2/45. Case report on SHORT syndrome.The acronym SHORT was first used by Gorlin et al. (1975) and Sensenbrenner et al. (1975) to define a recognizable pattern of features, consisting of Short Stature, Hyperextensibility of joints and/or inguinal hernia, Ocular depression, Rieger anomaly, and Teething delay. Other features characteristic of the syndrome included intrauterine growth retardation (IUGR), slow weight gain, frequent illness, triangular face, anteverted ears, telecanthus, deeply set eyes, wide nasal bridge, hypoplastic alae nasi, chin dimple, micrognathia, clinodactyly, partial lipodystrophy, hearing loss, functional heart murmur, delayed bone age, delayed speech, normal intellect, glucose intolerance, and insulinopenic diabetes. To our knowledge 19 cases of SHORT syndrome have been reported (Gorlin et al., 1975; Sensenbrenner et al., 1975; Aarskog et al., 1983; Toriello et al., 1985; Lipson et al., 1989; Schwingshandl et al., 1993; Verge et al., 1994; Bankier et al., 1985; Brodsky et al., 1996; Sorge et al., 1996; Haan and Morris, 1998). We report the twentieth patient diagnosed with SHORT syndrome who presented with growth retardation, sensorineural hearing loss, and minor dysmorphic features, consistent with the phenotype described for this syndrome.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
3/45. Terrien's marginal degeneration associated with posterior polymorphous dystrophy.PURPOSE: To document an association between Terrien's marginal degeneration and posterior polymorphous dystrophy. methods: A 23-year-old Saudi man presented with decreased vision, peripheral corneal thinning with vascularization and scarring, and abnormalities of the posterior stroma and Descemet's membrane. RESULTS: Clinical examination, corneal topography, and specular microscopy were consistent with a diagnosis of Terrien's marginal degeneration and posterior polymorphous dystrophy. CONCLUSION: We report the first case, to our knowledge, of the simultaneous occurrence of Terrien's marginal degeneration with posterior polymorphous dystrophy.- - - - - - - - - - ranking = 7keywords = dystrophy (Clic here for more details about this article) |
4/45. Broader clinical spectrum of Fukuyama-type congenital muscular dystrophy manifested by haplotype analysis.Fukuyama-type congenital muscular dystrophy, walker-warburg syndrome, and muscle-eye-brain disease are clinically similar autosomal-recessive diseases, characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. The classification of these disorders remains controversial. We analyzed five patients with congenital muscular dystrophy from four families who had severe eye and brain anomalies, such as retinal dysplasia and hydrocephalus, using polymorphic microsatellite markers flanking the Fukuyama-type congenital muscular dystrophy locus on chromosome 9q31. All patients were heterozygous for the Fukuyama muscular dystrophy founder haplotype with 3-kb insertion. In three cases, the other chromosome without the 3-kb insertion exhibited the same haplotype with a nonsense mutation on exon 3 of the Fukuyama gene. Thus, these three patients were compound heterozygotes for the condition. Severe eye anomalies such as retinal dysplasia or detachment and hydrocephalus could be included in the clinical spectrum of Fukuyama muscular dystrophy. The clinical spectrum of this disease is much broader than previously presumed.- - - - - - - - - - ranking = 1014.3949751953keywords = muscle-eye-brain disease, muscle-eye-brain, congenital muscular dystrophy, muscular dystrophy, dystrophy (Clic here for more details about this article) |
5/45. A case of walker-warburg syndrome.walker-warburg syndrome (WWS) is an autosomal recessive disorder characterized by type II lissencephaly, cerebellar and retinal anomalies, and congenital muscular dystrophy. We report a female diagnosed with WWS based on clinical criteria. This patient was found to have fetal hydrocephalus on ultrasonography at 29 weeks of gestation, and exhibited severe hypotonia, ocular malformations, and hydrocephalus at birth. MRI revealed type II lissencephaly, hydrocephalus, and other severe brain malformations. Genetic analysis was performed to distinguish WWS from severe Fukuyama-type congenital muscular dystrophy (FCMD), which has numerous findings in common. This revealed no expression of the founder haplotype or single-stranded conformation polymorphism (SSCP) abnormalities. Since the life expectancy of patients with FCMD is longer, differential diagnosis should be performed precisely.- - - - - - - - - - ranking = 84.71867218381keywords = congenital muscular dystrophy, muscular dystrophy, dystrophy (Clic here for more details about this article) |
6/45. Unilateral glaucoma in sotos syndrome (cerebral gigantism).PURPOSE: To report a patient with unilateral glaucoma associated with sotos syndrome. sotos syndrome (cerebral gigantism) is a disorder of growth and development with characteristic facial changes and normal endocrine function. Ocular manifestations may also include megalocornea, iris hypoplasia, cataracts, megalophthalmos, strabismus, nystagmus, and retinal dystrophy. methods: Case report. A 50 year-old man with the clinical features of sotos syndrome presented with complaints of decreased vision in the left eye. RESULTS: Ophthalmologic examination revealed bilateral megalocornea, megalophthalmos, iris hypoplasia and transillumination defects, cataracts, and unilateral glaucoma. intraocular pressure was lowered, and visual field loss was stabilized with topical medications. CONCLUSION: sotos syndrome patients should be examined routinely to allow for early detection and treatment of potential ocular problems, including glaucoma.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
7/45. A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics.PURPOSE: To describe a child with Muscle-eye-brain disease (MEB), one of three types of congenital muscular dystrophy associated with ocular abnormalities. methods: Case report. RESULTS: The child showed severe visual impairment due to progressive myopia and retinal degeneration, a pachygyria-type of migration disorder of the brain with a nodular cortical surface, i.e. cobblestone cortex, as well as muscular weakness and severe mental retardation. CONCLUSION: Ophthalmological assessments are important to help to diagnose and follow children with congenital muscular dystrophy.- - - - - - - - - - ranking = 1487.7294531509keywords = muscle-eye-brain disease, muscle-eye-brain, congenital muscular dystrophy, muscular dystrophy, dystrophy (Clic here for more details about this article) |
8/45. Cohen syndrome with acanthosis nigricans and insulin resistance.Cohen syndrome is a rare genetic disorder consisting of truncal obesity, hypotonia, mental retardation, microcephalia, characteristic facial appearance and ocular anomalies. Other diagnostic clinical features include narrow hands and feet, low growth parameters, neutropenia and chorioretinal dystrophy. Acanthosis nigricans is a cutaneous disorder characterized by hyperpigmentation and papillomatosis. Syndromal acanthosis nigricans may occasionally appear as a feature of several specific syndromes. We report a patient showing the typical characteristics of Cohen syndrome with acanthosis nigricans and hyperinsulinemia.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
9/45. Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease.PURPOSE: We present the clinical, genetic and histopathologic findings in two siblings with Muscle-eye-brain disease (MEB-D), an autosomal recessive disease characterized by mental retardation, muscular dystrophy, retinal hypoplasia and brain abnormalities. methods: Clinical, histopathologic and gene mapping studies of a family with two normal and two children with MEB-D. RESULTS: Two siblings presented in the first few months of life with developmental delay, hypotonia, and strabismus. MRI of the brain showed colpocephaly, pontine and cerebellar atrophy, and diffuse white matter disease. Both patients were blind and had high myopia, strabismus, and retinal and optic nerve abnormalities. The older boy had glaucoma. Both children died from uncontrolled seizures. There was retinal, choroidal and RPE atrophy and optic nerve hypoplasia on ocular histopathology. Both patients shared the same parental haplotypes at the MEB locus on chromosome 1p, while an unaffected sibling did not, indicating possible linkage to the MEB locus. CONCLUSIONS: patients with MEB-D have severe visual impairment from retinal and optic nerve hypoplasia. High myopia appears to be a consistent finding. The ocular manifestations of MEB-D appear to be distinct from those of patients with walker-warburg syndrome.- - - - - - - - - - ranking = 1327.5783940477keywords = muscle-eye-brain disease, muscle-eye-brain, muscular dystrophy, dystrophy (Clic here for more details about this article) |
10/45. Bilateral cataract and high myopia in a child with trichothiodystrophy: a case report.Trichothiodystrophy refers to a group of autosomal recessive disorders that have in common brittle sulphur-deficient hair (7). The abnormalities are usually obvious at birth and the clinical expression is variable. Ocular abnormalities are common with bilateral cataract being the most frequent one. We report on a four year old boy with trichothiodystrophy (complementation group TTD-A) who presented to us with strabismus, high myopia and bilateral cataract.- - - - - - - - - - ranking = 6keywords = dystrophy (Clic here for more details about this article) |
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