1/36. Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous.PURPOSE: To report an unusual case of familial exudative vitreoretinopathy in an infant. methods: Case report. A 6-day-old girl had unilateral microphthalmia in the right eye, with a retrolental plaque initially diagnosed as persistent hyperplastic primary vitreous. Three months later, peripheral retinal vascular changes and a fibrovascular ridge were noted in the left eye, suggesting familial exudative vitreoretinopathy as the cause in both eyes. RESULTS: The microphthalmic right eye was unsalvageable. The left eye developed an exudative retinal detachment despite photocoagulation of the peripheral avascular retina. Additional cryotherapy resulted in resolution of the detachment and regression of the vascular changes. CONCLUSIONS: With highly asymmetric involvement, neonatal familial exudative vitreoretinopathy can mimic persistent hyperplastic primary vitreous. Fellow eye involvement can progress rapidly.- - - - - - - - - - ranking = 1keywords = eye (Clic here for more details about this article) |
2/36. 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 = 0.08942587518023keywords = ocular (Clic here for more details about this article) |
3/36. 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 = 0.029808625060077keywords = ocular (Clic here for more details about this article) |
4/36. Optical coherence tomography in the study of the Goldmann-Favre syndrome.PURPOSE: To report a case of Goldmann-Favre syndrome with special emphasis on the optical coherence tomography findings. methods: In a 23-year-old white man with an 8-year history of visual impairment in both eyes and night blindness, vertical and horizontal optical coherence tomography images were obtained through the macula and through the retinoschisis located at the temporal side of the macula. RESULTS: Optical coherence tomography showed in the left eye a clear loss of the inner retinal layer at the fovea and the formation of inner and outer retinal layer holes in the temporally located retinoschisis. The outer retinal layer hole had rolled edges. CONCLUSION: In Goldmann-Favre syndrome, optical coherence tomography demonstrated confluent macular cystoid changes and retinoschisis in both eyes. In the left eye, a lamellar macular hole and retinoschisis with inner retinal layer and outer retinal layer holes were observed. The outer retinal layer hole had rolled edges.- - - - - - - - - - ranking = 0.66666666666667keywords = eye (Clic here for more details about this article) |
5/36. 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 = 0.029808625060077keywords = ocular (Clic here for more details about this article) |
6/36. 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 = 0.36314195839341keywords = eye, ocular (Clic here for more details about this article) |
7/36. 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 = 0.029808625060077keywords = ocular (Clic here for more details about this article) |
8/36. 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 = 0.16666666666667keywords = eye (Clic here for more details about this article) |
9/36. Clinical and ultrastructural features of a novel hereditary anterior segment dysgenesis.OBJECTIVE: To describe the clinical, histopathologic, and hereditary features of a novel familial anterior segment dysgenesis. DESIGN: Prospective, observational case series and interventional case report. PARTICIPANTS: Ten individuals from three generations of a single family with iris and corneal abnormalities associated with congenital cataracts. MAIN OUTCOME MEASURES: An ophthalmic evaluation including slit-lamp examination, corneal topography, pachymetry, and specular biomicroscopy of all family members, and histopathologic and ultrastructural evaluation of one excised corneal button. RESULTS: The proband was an 81-year-old man with bilateral aphakia and diffuse corneal haze, and thinning associated with corneal guttae. His pupils were small, mildly eccentric, and difficult to dilate. Pachymeter readings were 335 microm (right eye) and 330 microm (left eye). Topography confirmed advanced steepening of both corneas. light microscopic and transmission electron microscopic examinations of the corneal button revealed an attenuated endothelium with prominent intracellular random aggregates of small-diameter filaments staining positively for cytokeratin. Descemet's membrane was thickened and had marked posterior nodularity. Various-sized polymorphic vacuoles containing layered electron-dense material were present within and between collagen lamellae and within keratocytes throughout the stroma and Bowman's membrane. Secondary bullous changes of the epithelium with thickening of the basement membrane were also observed. The family pedigree demonstrated an autosomal dominant inheritance pattern. CONCLUSIONS: This constellation of autosomal dominantly inherited corneal endothelial and stromal disorder, with congenital cataracts and iris abnormalities, represents a novel anterior segment disorder. Its etiology may involve an abnormal migration of the secondary mesenchyme.- - - - - - - - - - ranking = 0.33333333333333keywords = eye (Clic here for more details about this article) |
10/36. 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 = 1.1964752917267keywords = eye, ocular (Clic here for more details about this article) |
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