1/41. Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation.We report on two siblings that have been followed for 14 years, with merosin-positive congenital muscular dystrophy (CMD), cataract, retinitis pigmentosa, dysversion of the optic disc, but no cerebral anomalies, except for microcephaly and slight mental retardation (MR). The younger child had three generalized seizures easily controlled by anticonvulsant therapy. Both children presented hypotonia from birth, delayed psychomotor development, generalized muscular weakness, and atrophy and joint contractures of knees and ankles. The course of the disease, apparently static during the first 10 years of life, became progressive during the second decade with loss of deambulation by the age of 13. creatine kinase was increased in both children. Bilateral cataract was diagnosed at 6-months of age. In spite of the occurrence of microcephaly, MR was slight and the siblings acquired reading and writing skills after the aged 10. head magnetic resonance imaging showed normal results in both siblings. The classification of these cases within the broad spectrum of CMD is difficult since most of the known muscle-eye-brain syndromes generally show severe MR and brain anomalies. We consider these cases as corresponding to the rarer syndromes of merosin-positive CMD with associated features such as cataract and MR that were particularly emphasized during the 50th ENMC International Workshop on CMD [Dubowitz V. Workshop report: 50th ENMC International workshop on congenital muscular dystrophy. Neuromusc Disord 1997;7:539-547]. Further genetic, pathological, neuroradiological, and immunocytochemical studies will be necessary for better elucidation of the classification and pathogenesis of CMD.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
2/41. Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.pachyonychia congenita (PC) is a group of inherited ectodermal dysplasias, the characteristic phenotype being hypertrophic nail dystrophy. Two main clinical subtypes, PC-1 and PC-2, are inherited as autosomal dominant disorders, but other less well characterized clinical forms also exist. The PC-1 phenotype may be distinguished by the absence of the epidermal cysts found in PC-2, and it has been shown to be caused by mutations in either keratin K16 or its expression partner, the K6a isoform of K6. Mutations in K16 have also been shown to cause a milder related phenotype, focal non-epidermolytic palmoplantar keratoderma. Recently, we have developed a long-range polymerase chain reaction (PCR) strategy which allows specific amplification of the entire functional K16 gene (KRT16A), without amplification of the two K16 pseudogenes (psiKRT16B and psiKRT16C), enabling mutation analysis based on genomic dna. Here, using this methodology, we describe novel mutations R127P and Q122P in the helix 1A domain of K16 in two families presenting with PC-1. Both mutations were excluded from 50 normal unrelated individuals by restriction enzyme analysis of K16 PCR fragments. In one family, ultrastructural analysis was performed, revealing distinctive tonofilament abnormalities. Specifically, keratin filament bundles were greatly condensed, but did not form the dense amorphous aggregates seen in a number of other keratin disorders. In the second kindred, autosomal dominant cataract was present in some but not all members affected by PC. As the cataract phenotype did not fully cosegregate with the K16 mutation, and given that K16 is not expressed in the lens, these two phenotypes may be coincidental.- - - - - - - - - - ranking = 0.16666666666667keywords = dystrophy (Clic here for more details about this article) |
3/41. rupture of the anterior lens capsule in Alport syndrome.Alport syndrome is an inherited disorder of type IV collagen, a major constituent of basement membranes. Eighty-five percent of cases are transmitted through X-linked dominant inheritance, although autosomal dominant and autosomal recessive inheritance has also been reported. Clinical manifestations of Alport syndrome include progressive glomerulopathy, sensorineural deafness, anterior lenticonus, posterior corneal dystrophy, and abnormal retinal pigmentation. Anterior lenticonus may lead to loss of vision because of progressive myopia or cataract formation. We report 2 cases of unusual cataract formation in adolescent boys who had a rupture of the anterior lens capsule. One rupture was spontaneous, and the other was traumatic.- - - - - - - - - - ranking = 6.1877934108878keywords = corneal dystrophy, dystrophy (Clic here for more details about this article) |
4/41. Merosin-positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families.Merosin-positive congenital muscular dystrophy is a heterogenous group of disorders with varying clinical presentations and severity. In general, central nervous system involvement is not present. There is also evidence for still unclassified forms. Here we report three cases in two families with merosin-positive congenital muscular dystrophy, mild mental retardation, bilateral cataracts and normal cranial magnetic resonance imaging. To our knowledge, such an association has not been reported previously, and thus is a new entity within congenital muscular dystrophy nosology.- - - - - - - - - - ranking = 1.1666666666667keywords = dystrophy (Clic here for more details about this article) |
5/41. 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 = 0.16666666666667keywords = dystrophy (Clic here for more details about this article) |
6/41. Cataract surgery in a patient with Brown-McLean syndrome.The Brown-McLean syndrome is defined by corneal edema that involves the peripheral 2.0 to 3.0 mm of cornea, sparing the central cornea. This syndrome is usually associated with previous cataract surgery but has been reported rarely in patients with other predisposing factors such as angle-closure glaucoma or spontaneous lens absorption with iridodonesis. We describe the clinical course of a 50-year-old man with myotonic dystrophy who had Brown-McLean syndrome with no identifiable predisposition for peripheral corneal edema. Although this syndrome appears to be the result of peripheral endothelial dysfunction, this patient was able to tolerate cataract extraction without developing central corneal edema.- - - - - - - - - - ranking = 0.16666666666667keywords = dystrophy (Clic here for more details about this article) |
7/41. 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 = 1keywords = dystrophy (Clic here for more details about this article) |
8/41. recurrence of secondary opacification and development of a dense posterior vitreous membrane in patients with myotonic dystrophy.We present 3 patients diagnosed with myotonic dystrophy who developed recurrences of secondary opacification. One developed a dense posterior vitreous membrane. patients with myotonic dystrophy may have an increased risk for recurrent secondary opacification and for developing intraocular fibrosis after cataract extraction.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
9/41. Rapid onset childhood cataracts leading to the diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.PURPOSE: To report a case of bilateral cataracts in a child that led to diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. DESIGN: Observational case report. methods: A 12-year-old boy was being investigated for weakness, lethargy, short stature, and blurred vision. He developed bilateral, dense cataracts over a 2-week period. He was found to be hypocalcemic and diagnosed with hypoparathyroidism and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. RESULTS: Because of hypoparathyroidism, adrenocortical failure, and insulin-dependent diabetes, it was 9 months before the patient's metabolic imbalance was brought under sufficient control to allow cataract surgery. CONCLUSIONS: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy should be considered with diagnoses of hypocalcemic cataract.- - - - - - - - - - ranking = 1.1666666666667keywords = dystrophy (Clic here for more details about this article) |
10/41. Dermochondral corneal dystrophy (of Francois).Dermochondral corneal dystrophy (of Francois) has been reported rarely in the literature. It consists of a triad of findings characterised by the development of skin nodules, acquired deformities of the extremities, and a corneal dystrophy. The corneal dystrophy is central and superficial with whitish subepithelial opacities. We present two brothers who display previously unreported ocular findings. Specifically, they developed confluent opacification of their central corneas with anterior stromal involvement, and peculiar anterior cortical cataracts. These findings should be added to the spectrum of findings seen in this rare disorder.- - - - - - - - - - ranking = 43.314553876215keywords = corneal dystrophy, dystrophy (Clic here for more details about this article) |
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