1/33. Artificial iris diaphragm and silicone oil surgery.In order to avoid contact between silicone oil and the cornea and subsequent painful corneal dystrophy in aniridial eyes, an artificial iris diaphragm was constructed. It consists of polymethylacrylat (PMMA) and simulates the situation of the iris with a central pupillary opening and inferior iridectomy. To date, these diaphragms have been implanted in 11 cases of the severest ocular trauma with accompanying aniridia and proliferative vitreoretinopathy. In the presence of sufficient residual secretion of the ciliary body (9 cases), the diaphragm assumes the function of normal iris and prevents the silicone oil from coming into contact with the corneal endothelium. The transparent diaphragm ensures a view through to the fundus. In the early postoperative period, there was, as anticipated, a fibrinous reaction in the area of the anterior segment.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
2/33. Mucolipidosis type IV. Presentation of a mild variant.The authors report a 16-year-old girl with mucolipidosis type IV. She was referred because of deteriorating vision over the past three years. Corneal clouding with the appearance of cornea verticillata and retinal dystrophy were the main ophthalmological findings. Except for clumsiness no psychomotor retardation was present. Ultrastructural analysis of a conjunctival biopsy and cultured fibroblasts suggested a diagnosis of mucolipidosis type IV which was confirmed by biochemical studies. This patient represents the mildest described presentation of mucolipidosis type IV.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
3/33. Pediatric ophthalmologic findings of Cohen syndrome in twins.We present the clinical findings and follow-up data of male twins with Cohen syndrome. The most characteristic ophthalmologic findings were down-slanting eyelids, lens opacities, chorioretinal dystrophy, pigmentary retinal deposits, pale disk, and bull's eye maculae.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
4/33. Refractive laser surgery in children with coexisting medical and ocular pathology.PURPOSE: To report the visual, refractive, and functional outcomes of photorefractive keratectomy (PRK) and of laser-assisted subepithelial keratectomy in a group of children with significant refractive error and underlying medical conditions or ocular pathology who were noncompliant with traditional management. SETTING: Nonhospital surgical facility and a hospital clinic. methods: This case series comprised 5 individual cases of anisometropic amblyopia and/or high myopia. Underlying medical and ocular conditions were as follows: upper eyelid hemangioma with oblique myopic astigmatism, Pelizaeus-Merzbacher leukodystrophy with nystagmus, klippel-trenaunay-weber syndrome with glaucoma, incontinentia pigmenti with unilateral optic nerve atrophy, and goldenhar syndrome with unilateral optic nerve hypoplasia. photorefractive keratectomy or LASEK was performed in 6 eyes of 5 patients. Age range at the time of surgery was 1.0 to 7.0 years. All procedures were performed under general anesthesia. RESULTS: Best corrected visual acuity improved by 2 lines in 2 patients and 1 line in 2 patients by 6 months after surgery. Stereopsis and/or fusional status improved in 3 patients. amblyopia treatment compliance improved in 1 patient. Alignment improved without strabismus surgery in 2 cases. A functional vision survey demonstrated a positive effect on the ability of all 5 children to function in their environment. CONCLUSION: During the period of visual cortical plasticity, refractive surgery, by eliminating the refractive component of amblyopia and by promoting fusional ability, provides considerable improvement in children, even those with underlying medical conditions associated with ocular pathology.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
5/33. De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy.BACKGROUND: Mutations in the retina-specific ABC transporter (ABCA4) gene are associated with different types of macular degeneration, including Stargardt disease, cone-rod dystrophy, Fundus flavimaculatus, retinitis pigmentosa and probably age-related macular degeneration. methods: Screening for mutations in the ABCA4 gene was performed using denaturing high-performance liquid chromatography and direct sequencing. RESULTS: We describe the identification of a new de novo 44-bp deletion in an Italian patient affected by cone-rod dystrophy. The mutation, located in intron 48 of the ABCA4 gene, is predicted to cause exon 49 skipping, resulting in loss of the C-terminus of the ABCA4 protein. Interestingly, exon 49 also codes for a highly conserved VFVNFA motif, which has been demonstrated to be essential for the activity of ABCA1, another gene of the ABC transporter family. The presence of CT repeats at the breakpoints might have facilitated the generation of the deletion through a slippage mispairing mechanism. CONCLUSIONS: The new 6730-16del44 deletion is the first de novo mutation associated with cone-rod dystrophy and may contribute to a better understanding of the role of ABCA4 mutations in macular dystrophies.- - - - - - - - - - ranking = 7keywords = dystrophy (Clic here for more details about this article) |
6/33. Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type.Congenital muscular dystrophy (CMD) associated with cerebro-ocular dysplasia named muscle-eye-brain disease (MEB-D) is described in two sisters. Progressive hypotonia, mental retardation and severe visual failure appeared immediately after birth. Pathological examination demonstrated muscular dystrophy, hydrocephalus, type II lissencephaly and defective eye development of foetal origin. The great similarity of the clinical and neuropathological picture of both sisters is in agreement with an autosomal recessive inheritance. Neuropathological distinction between Fukuyama-CMD and MEB-D is a more severe and earlier cerebral developmental defect and the association with ocular dysplasia in MEB-D.- - - - - - - - - - ranking = 108.17316950879keywords = congenital muscular dystrophy, muscular dystrophy, dystrophy (Clic here for more details about this article) |
7/33. Ocular manifestations in Fukuyama type congenital muscular dystrophy.We describe a child with Fukuyama type congenital muscular dystrophy (FCMD) who had several ocular manifestations since birth. These included high myopia, strabismus, nystagmus and optic atrophy of both eyes. Later he developed retinal detachment of both eyes. Our survey of 33 cases with FCMD revealed that high myopia and optic atrophy are common in FCMD. retinal detachment was reported in two cases in addition to the present one and was considered to be of developmental origin. The association of congenital muscular dystrophy with brain changes and ocular anomalies were found in FCMD, muscle, eye and brain disease (MEB) and walker-warburg syndrome (WWS). Ocular manifestations in FCMD were, in general, less severe than those in WWS or MEB. Our study suggests that FCMD, MEB and WWS are developmental abnormalities with a continual spectrum of disease severity.- - - - - - - - - - ranking = 147.59296158863keywords = congenital muscular dystrophy, muscular dystrophy, dystrophy (Clic here for more details about this article) |
8/33. Histopathologic features of adult-onset foveomacular pigment epithelial dystrophy.We studied the clinical and histopathologic characteristics of the eyes obtained after death from a patient with adult-onset foveomacular pigment epithelial dystrophy. The pigmentation seen in the central fovea corresponded histologically to a hyperplastic clump of retinal pigment epithelium. The pale yellow rim surrounding the central pigmentation corresponded histologically to dense periodic acid-Schiff-positive material underlying thinned, atrophic retinal pigment epithelium. fluorescence microscopy demonstrated homogeneous autofluorescence in the retinal pigment epithelium that was similar in intensity to that of an age-matched control. The results of this clinicopathologic study suggest that in adult-onset foveomacular pigment epithelial dystrophy, an alteration of macular retinal pigment epithelium causes an accumulation of abnormal subretinal pigment epithelial material, photoreceptor degeneration, and serous retinal detachment.- - - - - - - - - - ranking = 6keywords = dystrophy (Clic here for more details about this article) |
9/33. Ocular findings in Fukuyama type congenital muscular dystrophy.In Fukuyama type congenital muscular dystrophy (FCMD), congenital muscular dystrophy and anomalies of the central nervous system are regarded as the major features, but the existence of ocular lesions has hardly been recognized as being important. In the present study, close ophthalmologic examinations were performed on 11 patients with FCMD, and we found myopia, weakness of the orbicularis oculi, congenital nystagmus, cortical blindness, optic atrophy, chorioretinal degeneration, etc. In particular, the chorioretinal degeneration observed in the ocular fundus was considered to be specific to FCMD. It is thought that these ocular lesions or changes are caused by the same mechanism as that involved in the central nervous system anomalies.- - - - - - - - - - ranking = 147.59296158863keywords = congenital muscular dystrophy, muscular dystrophy, dystrophy (Clic here for more details about this article) |
10/33. Neuro-ophthalmic presentation of cone dysfunction syndromes in the adult.Cone dysfunction syndromes are probably part of the spectrum of cone-rod degenerations and can present with widely varying clinical pictures. Thus, although the age of onset is usually before the third decade, patients can present at any age, and, although family history is usually positive, in typical cases it may be quite negative. patients can have initially very subtle, bizarre, or poorly described visual complaints so that numerous examiners may label them "functional" or "malingering." They can present with the classic symptoms of hemeralopia, poor acuity, and reduced color vision, but these complaints may be absent. visual acuity and color vision can be normal or severely reduced and the fundi may show classic changes such as bulls-eye maculopathy, macular choroidal atrophy, pigment clumping in the maculae, mild peripheral pigmentary changes, or a fundus flavimaculata-like change. The patients here reported were considered as having normal fundi by several competent ophthalmologists as a rule, however. visual fields can vary from normal to ring scotomas, central scotomas, and other interesting types of defects, even simulating a hemianopia. Although involvement is usually symmetrical between the two eyes, this is not always the case, and one of our patients had a strictly uniocular cone dystrophy. Cone dysfunction can be considered in a patient of any age even with normal acuity, good color vision, and a normal ophthalmoscopic examination. A high index of suspicion should prompt specific questioning about hemeralopia, or reduced visual function in brightly illuminated situations, and better vision in twilight or under dim illumination. patients may falsely describe hemeralopia as "glare" or "photophobia." Careful testing of color vision, a meticulous tangent screen examination, and specifically looking for diffuse narrowing of retinal arterioles in a patient with an otherwise normal fundus appearance will usually suffice to prompt the clinician to order electroretinography, which is the definitive diagnostic criterion for the cone dystrophies. It is important to consider this diagnosis before embarking on an otherwise fruitless and expensive neuroimaging investigation.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
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