1/25. Microstrabismus in monozygotic twins.PURPOSE: To report microesotropia in twins as a unique example of the role of heredity in primary microstrabismus. methods: Clinical records of the examinations of monozygotic twins with primary microstrabismus were reviewed. RESULT: Microstrabismus with different clinical findings was present in monozygotic twins. The family history and personal history of the patients were not significant. CONCLUSION: Microstrabismus can be seen as primary ocular motility problem without previous infantile esotropia or anisometropia. Genetic factors as well as intrauterine environment and developmental factors may affect sensorimotor development of the infant and cause ocular motility problems. Both twins should be examined for ocular motility disorders even in the absence of complaints.- - - - - - - - - - ranking = 1keywords = ocular (Clic here for more details about this article) |
2/25. Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family.PURPOSE: To describe the clinical findings of a form of posterior polar cataract in a large Japanese family and to determine whether the posterior polar cataract is causally related to other autosomal dominant cataracts with known genes, chromosomal locations, or both. methods: Systemic and ocular histories were obtained and comprehensive ophthalmic examinations were performed in 15 of 37 members of the Japanese family. The posterior polar cataract was transmitted in an autosomal dominant manner through four generations. Although there is some variation in the degree of opacification, the posterior polar cataract in this family is characterized by progressive disk-shaped posterior subcapsular opacities. genetic linkage analysis was performed with 41 polymorphic microsatellite markers located in chromosomal regions known for linkage to cataracts. Genomic dna extracted from the 15 individuals was amplified by polymerase chain reaction, the genotype at the marker loci was determined in each family member, and the lod score was calculated at each locus. RESULTS: Significant linkage of the posterior polar cataract was ruled out from the following 10 loci or chromosomal regions: 16q22 and 1p36, to which two forms of autosomal dominant posterior polar cataract have been assigned: 1q21-q25, 2q33-q35, 13cen, 17p13, 17q11-q12, 17q24, 21q22, and 22q, which are the regions responsible for other autosomal dominant congenital cataracts. CONCLUSIONS: This study confirms the genetic heterogeneity of autosomal dominant posterior polar cataracts and demonstrates that the posterior polar cataract in this Japanese family is phenotypically and genetically distinct from previously mapped cataracts.- - - - - - - - - - ranking = 0.33333333333333keywords = ocular (Clic here for more details about this article) |
3/25. Congenital corneal opacification in De Barsy syndrome.A newborn male was noted to have bilateral congenital corneal opacification. Findings from examination disclosed a variety of dysmorphic features, including cutis laxa, progeroid aspect, short stature, multiple hyperextensible subluxated joints, muscular hypotonia, and hyperreflexia. Bilateral penetrating keratoplasties were performed; histopathologic examination revealed diffuse epithelial thickening, loss of the Bowman layer, and stromal attenuation with anterior stromal scarring. Special stains showed no deposition of abnormal material in the corneas. Electron microscopy demonstrated absence of Bowman layer differentiation with a paucity of collagen fibers, as well as extensive small elastic fibers in the anterior stroma. The diagnosis of De Barsy syndrome was made, a rare progeroid syndrome associated with characteristic ocular, facial, skeletal, dermatologic, and neurologic abnormalities. De Barsy syndrome should be included in the differential diagnosis of congenital corneal opacification; its distinctive clinical features enable the clinician to easily differentiate it from other causes of congenitally cloudy corneas.- - - - - - - - - - ranking = 0.33333333333333keywords = ocular (Clic here for more details about this article) |
4/25. retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome.We report on a consanguineous family with 6 children (out of 7) affected by a spondylo-ocular syndrome. Clinical features include cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, immobile spine with thorakal kyphosis and reduced lumbal lordosis. On ophthalmological examination of the index patient, a dense cataract and complete retinal detachment could be detected on the right eye. On the left eye, an absent lens nucleus was found, but no retinal detachment. On radiological examination, there was generalized moderate osteoporosis; the spine showed marked platyspondyly and the bone age was advanced. On laboratory investigations, a normal excretion of amino acids, mucopolysaccharides and oligosaccharides could be found. The phenotypical spectrum observed in the 6 affected individuals was rather uniform. The karyotype was normal in all affected children. This hitherto undescribed combination of oculo-skeletal symptoms shows most resemblance with connective tissue disorders, suggesting a range of candidate genes for mutation analysis.- - - - - - - - - - ranking = 0.33333333333333keywords = ocular (Clic here for more details about this article) |
5/25. phacoemulsification in spherophakia with corneal touch.A phacoemulsification procedure with implantation of a foldable acrylic intraocular lens in a 31-year-old man with spherophakia is described. The procedure was necessitated by anterior dislocation of the spherophakic lens, with corneal endothelial contact and development of central corneal edema. With a careful approach, the procedure was uneventful and the outcome successful. Modern small-incision cataract surgery techniques are of great benefit in this type of complicated case.- - - - - - - - - - ranking = 0.33333333333333keywords = ocular (Clic here for more details about this article) |
6/25. Macular dystrophy in a 9-year-old boy with fundus albipunctatus.PURPOSE: To report a 9-year-old boy with fundus albipunctatus and macular dystrophy. DESIGN: Observational case report. methods: A complete ophthalmic examination was performed. The 11-cis retinol dehydrogenase gene (RDH5) was examined by direct genomic sequencing. RESULTS: The fundi of the 9-year-old boy showed numerous yellow-white punctata as well as foveal atrophic lesions in both eyes. His corrected visual acuity was RE: 0.5 and LE: 0.3. Scotopic full-field electroretinograms were not present after 20 minutes of dark-adaptation but were normal after 3 hours of dark-adaptation. Full-field cone and 30-Hz flicker electroretinograms were normal; however, focal macular cone electroretinograms were significantly reduced. A compound heterozygous mutation of Tyr281His and Leu310GluVal in RDH5 was detected. CONCLUSION: We suggest that the macular dystrophy is caused by the RDH5 mutation as a phenotype variation in fundus albipunctatus.- - - - - - - - - - ranking = 3.9284433386759keywords = dystrophy (Clic here for more details about this article) |
7/25. Congenital retraction of the lower eyelid: two case reports.PURPOSE: Idiopathic congenital retraction of the lower eyelid is rare. To further define the clinical features of this condition, we describe two new cases. methods: Retrospective chart review. RESULTS: In both cases, eye movements were restricted ipsilaterally and the condition was nonprogressive. CT scans showed mildly enlarged inferior and medial rectus muscles in one patient and normal muscles in the other. All other orbital structures were normal. CONCLUSIONS: No definite cause for the lower eyelid retraction could be found, but it appeared to be related to a tight inferior rectus muscle. These patients may represent a variant of ocular fibrosis syndrome.- - - - - - - - - - ranking = 0.33333333333333keywords = ocular (Clic here for more details about this article) |
8/25. prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome.Stickler syndrome or hereditary progressive arthro-ophthalmopathy, is an autosomal dominant condition characterized by ocular manifestations, arthritic changes, orofacial features and deafness, in variable degrees.We report the first case of prenatal diagnosis of Stickler syndrome in a child with a Pierre-Robin sequence (PRS) causing a polyhydramnios. When isolated polyhydramnios is not explained by immunological, metabolic or infectious causes, swallowing difficulty due to PRS must be considered. As PRS is aetiologically heterogeneous, the prognosis depends on the cause. Genetic investigations and familial history must be taken into account. Here, in a context of familial Stickler syndrome, making the prenatal diagnosis of PRS as part of Stickler syndrome allowed us to reassure the parents and to anticipate airway trouble at the child's birth.- - - - - - - - - - ranking = 0.33333333333333keywords = ocular (Clic here for more details about this article) |
9/25. Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome.The Stickler syndrome is among the most common heritable disorders of connective tissue. The syndrome fully expressed clinical phenotype includes the degeneration of the vitreous gel and retina, frequently associated with myopia, accompanied by non-ocular features, such as craniofacial dysmorphisms or malformations, hearing impairment, skeletal dysplasia and progressive arthropathy. So far, mutations at three collagen loci, COL2A1, COL11A1 and COL11A2, have been found in Stickler syndrome patients, with about two thirds of investigated familial cases found to be associated to COL2A1 gene mutations. We report on a three generation family in which a diagnosis of Stickler syndrome was made and linkage analysis suggested COL2A1 to be the causing gene. These data permitted us to perform two prenatal diagnosis analysing the 3'VNTR polymorphism of the involved gene on amniocytes' dna and to provide the family with genetic counselling and paediatric support at the delivery.- - - - - - - - - - ranking = 0.33333333333333keywords = ocular (Clic here for more details about this article) |
10/25. Familial congenital ocular motor apraxia.Congenital ocular motor apraxia (coma) is a unique ocular motor disorder which is characterized by a deficit in initiation of voluntary horizontal eye movement with reserved reflex eye movement. Although a portion of cases with coma were found to be associated with other abnormalities, coma in most patients is an isolated disorder. The most characteristic appearance of these patients is compensatory head thrusts which usually become less evident with increasing age. Since Cogan first described coma in 1952, many cases have been reported. The majority of these occurred sporadically with only a few exceptions. We report on 4 patients with coma. Two of them were siblings, and the other 2 patients were father and daughter. The ocular motility status is described in detail.- - - - - - - - - - ranking = 2.3333333333333keywords = ocular (Clic here for more details about this article) |
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