1/248. Normal visual development after unilateral complete ptosis at birth.We report on a 5-year-old boy who was born with a unilateral complete ptosis secondary to a lid hematoma sustained at birth, which resolved spontaneously over the course of 6 weeks. visual acuity and binocularity have developed normally. This case adds evidence to the proposal of a latent period before the onset of a sensitive period in visual development.- - - - - - - - - - ranking = 1keywords = ocular (Clic here for more details about this article) |
2/248. Congenital myasthenia gravis: clinical and HLA studies in two brothers.Two brothers with congenital myasthenia gravis are described. In both, ptosis and ophthalmoplegia responded poorly to oral anticholinesterase therapy and to thymectomy. The brothers had two different HLA haplotypes and neither had the HLA-A1-B8-DW3 haplotypes which are commonly associated with myathenia gravis in adult-onset cases.- - - - - - - - - - ranking = 19.602054056329keywords = ophthalmoplegia (Clic here for more details about this article) |
3/248. Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility.We report on a 43-year-old woman who was referred for evaluation because of minor facial anomalies, myopathy, sterility, short stature, hearing loss, downward slant of palpebral fissures, bilateral ptosis, severe micro/retrognathia, high arched palate, and scoliosis. Cytogenetic analyses utilizing GTG/CBG bandings showed presence of one i(1p) and one i(1q) without normal chromosome 1 homologues. fluorescence in situ hybridization analysis showed hybridization to only two chromosomes, consistent with the G-banded interpretation of i(1p) and i(1q). To the best of our knowledge, this is the first case of isochromosomes 1p and 1q replacing the two normal chromosome 1s. Molecular investigations using markers for chromosome 1 showed inheritance of only one set of paternal alleles and absence of any maternal alleles in the patient. The adverse phenotype of the patient may be due to one or more recessive mutations, genomic imprinting, or a combination of both.- - - - - - - - - - ranking = 1.1836400706093keywords = myopathy (Clic here for more details about this article) |
4/248. Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areas of skin depigmentation.A male patient with brachycephalosyndactyly syndrome associated with ocular and skin anomalies is reported and it is suggested that this patient has a previously undescribed disorder.- - - - - - - - - - ranking = 1keywords = ocular (Clic here for more details about this article) |
5/248. Multiple systemic and periocular malformations associated with the fetal hydantoin syndrome.anticonvulsants remain necessary during pregnancy and the removal of such drugs is not recommended. However, on the available evidence, the physician may expect an increased risk of malformation including eye abnormalities as has been outlined. The abnormalities include growth deficiencies and delayed motor/mental development together with dysmorphic features, the most common of which seems to be cleft lip/cleft palate. Additionally, many of these children suffer from eye abnormalities including hypertelorism, ptosis, strabismus, epicanthal folds, and in this case abnormalities of the lacrimal apparatus.- - - - - - - - - - ranking = 4keywords = ocular (Clic here for more details about this article) |
6/248. Ophthalmic features of chromosome deletion 4p- (wolf-hirschhorn syndrome).By using the Giemsa banding technique we identified three patients with chromosome deletion 4p-. All had anterior segment anomalies, exotropia, blepharoptosis, antimongoloid palpebral fissures, hypertelorism, and disk abnormalities. One patient (Case 1) had Rieger's anomaly. Some clinical features in patients with 4p- are similar to those in patients with chromosome deletion 5p-, cri-du-chat syndrome, although 4p- individuals do not have the distinctive cry. The ocular features which distinguish 4p- from other deletions include normal tearing, some degree of blepharoptosis, and the preponderance of anterior segment signs.- - - - - - - - - - ranking = 1keywords = ocular (Clic here for more details about this article) |
7/248. Common deletion of mitochondrial dna in a 5-year-old girl with failure to thrive, ptosis, ophthalmoplegia and ragged-red fibers.A girl aged 4 years and 10 months presented with failure to thrive, ptosis, ragged-red fibers and the common 4.9 kb mitochondrial dna deletion. She had elevated serum lactic and pyruvic acids. The onset was at around 18 months. There were no signs of retinitis, and abnormal renal, liver or pancreatic functions. She later developed mild ophthalmoplegia at 6 years of age. Additional features of chronic progressive external ophthalmoplegia (CPEO) or kearns-sayre syndrome (KSS) are the conditions that should be watched and investigated in the long-term follow-up of this girl.- - - - - - - - - - ranking = 142.02078911651keywords = chronic progressive, ophthalmoplegia (Clic here for more details about this article) |
8/248. Diphenylhydantoin teratogenicity: ocular manifestations and related deformities.This patient illustrates a classical case of what many pediatricians call the diphenylhydantoin teratogenic syndrome. It suggests the possibility of an additional ocular finding of retinoschisis and optic nerve abnormalities which could conceivably have a teratogenic basis. The effects of epilepsy and diphenylhydantoin on these formations is discussed.- - - - - - - - - - ranking = 5keywords = ocular (Clic here for more details about this article) |
9/248. Intracranial fatigable ptosis.Two patients sought treatment for bilateral fatigable ptosis; one patient had a hematoma, and the other patient had an intracranial metastasis. Compression of the central caudal nucleus in the dorsal midbrain is proposed as the cause of this ptosis, and an alteration of central acetylcholine neurotransmission may contribute to ocular fatigability. Because symptoms that suggest fatigable ptosis can be similar to those that suggest ocular myasthenia gravis, a careful evaluation is necessary to avoid misinterpretation.- - - - - - - - - - ranking = 2keywords = ocular (Clic here for more details about this article) |
10/248. blepharoptosis and central nervous system abnormalities in combined valproate and hydantoin embryopathy.PURPOSE: To report a case of intrauterine anticonvulsant exposure with subsequent ocular adnexal manifestations. methods: Case report. RESULTS: An 18-month-old child with known anticonvulsant embryopathy was referred for the management of bilateral congenital blepharoptosis. physical examination confirmed ocular and nonocular external manifestations of valproate and hydantoin embryopathies. Cavum septum pellucidum, mild sulcation defects, and cerebellar atrophy were identified on neuroimaging. CONCLUSIONS: To our knowledge, our patient represents the second reported case of anomalous septum pellucidum after intrauterine valproate exposure. Clinicians evaluating patients with craniofacial features associated with intrauterine valproate exposure should recognize that concomitant anomalies of the central nervous system, including the septum pellucidum, might exist.- - - - - - - - - - ranking = 3keywords = ocular (Clic here for more details about this article) |
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