1/10. bardet-biedl syndrome.This case report describes the presentation of a patient with bardet-biedl syndrome. bardet-biedl syndrome is an autosomal recessive condition that includes retinal dystrophy, dystrophic extremities (commonly polydactyly), obesity, hypogenitalism, and renal disease. Cognitive deficit has also been considered part of the syndrome. The historically associated laurence-moon syndrome includes spastic paraparesis but not the obesity and polydactyly. They are now considered separate conditions. The most common feature of bardet-biedl syndrome is retinal dystrophy. The appearance of the retina in the condition is quite variable with typical retinitis pigmentosa being present in only a minority of cases. The associated optic atrophy can be primary in nature and might play a role in the decreased central vision. diagnosis of the condition is important for visual prognosis and low vision management. The renal disease often goes undetected until specific radiological testing is done after diagnosis of bardet-biedl syndrome. This is significant in that early death often occurs in this condition because of the renal disease.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/10. Best's vitelliform macular dystrophy.We examined and evaluated the ophthalmological findings of 47 patients with Best's vitelliform macular dystrophy (BVMD) and 5 cases suffering from related conditions to this macular disorder. Our sample re-confirm that BVMD is a progressive disease which may have several appearances in the course of its evolution. The heredity of this disorder is autosomal dominant with reduced penetrance and variable expressivity. Some contradictions exist regarding the nature of the primary defect in this entity. Electrooculographic and angiographic investigations lend support to the belief that the basic pathological changes are located in the retinal pigment epithelium. However, recent histopathological findings and flicker electroretinographic results indicate the possibility that the photoreceptor cells are equally involved, even before the pigment epithelium. In view of the existing disagreements about the pathogenesis of this disorder, certain considerations were advanced which suggest that the basic pathologic process in this entity produces a disorganisation in the structural and functional interdependance of both the photoreceptor cells and pigment epithelium.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/10. Progressive cone dystrophy.Psychophysical, reflectometric, and electrophysiological studies were performed on four members of a dominant pedigree with progressive cone dystrophy. The two youngest individuals were asymptomatic at the initial examination, and none of the subjects complained of problems associated with night vision. Absent or grossly reduced cone-mediated ERG responses revealed the widespread loss of cone function. Moderate elevations (1 log unit) in absolute threshold together with reductions in rhodopsin levels in the midperipheral retina provided evidence of a mild impairment of the rod system also, although not to the degree seen in a cone-rod dystrophy. The progressive nature of the disease was apparent from the case histories and the changes in visual performance that occurred on re-test after a 5-year interval. Likewise, the results of incremental threshold measurements at several retinal loci suggested that peripheral cones may be affected earlier and more severely than those in the central retina.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/10. Progressive nature of pigmented paravenous retinochoroidal atrophy.A 30-year-old man with pigmented paravenous chorioretinal atrophy showed, within a relatively short time, changes that documented the progressive nature of this disease. These changes included: further constriction of peripheral visual fields; more extensive and frequently confluent areas of retinochoroidal atrophy; a scalloped appearance of lesions resembling posterior gyrate atrophy; peripheral pigment clumping; and the presence of localized atrophic areas with crystal deposition in the peripheral retina.- - - - - - - - - - ranking = 5keywords = nature (Clic here for more details about this article) |
5/10. Crystalline retinopathy.A 52-year-old Japanese woman had retinal crystalline deposits with atrophy of the pigment epithelium and choriocapillaris and pigment clumps in the periphery. The patient did not have corneal crystals. The crystals were seen biomicroscopically in all layers of the retina and on the retinal vessels. The diagnosis of crystalline retinopathy was made. The progressive nature of the disease was confirmed, based on a 9-year follow-up. The authors reviewed this condition in the Japanese literature and believe that crystalline retinopathy may not be as rare in the Orient as previously thought.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/10. Autosomal dominant peripheral preretinal deposits.Abnormal yellow-white peripheral preretinal deposits are described as an autosomal dominant disorder in ten members of a large pedigree spanning three generations. The absence of any other major vitreoretinal abnormalities or retinal function disorders suggests that this is a benign disease; the nature and origin of the preretinal deposits is obscure.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
7/10. Wagner's vitreoretinal degeneration with generalized epiphyseal dysplasia.Wagner's vitreoretinal degeneration, midline facial defects and a moderate generalized epiphyseal dysplasia defined radiologically were encountered in a boy and his father. The familial nature of the condition and its autosomal dominant inheritance are described. Suggestions are made that patients said to have Wagner's disease differ in no way radiologically from cases diagnosed as having Stickler's syndrome.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
8/10. Retinal functions in snowflake degeneration.Retinal functions were studied in 7 patients with snowflake degeneration and correlated with fundus appearance. Despite the presence of vitreous turbidity, scotomatic glare sensitivity was slightly elevated in only one case. Retinal functions were affected more extensively in the late stages of the disease; however, abnormal retinal functions were also detected in some patients who showed only slight fundus changes on ophthalmoscopic examination. Kinetic perimetry showed peripheral defects which were more pronounced in the upper field. Flicker perimetry revealed abnormalities that kinetic perimetry could not detect. Dark-adaptation tests showed elevated rod thresholds except during the early stage of the disease. In all patients, the scotopic b-wave of the electroretinogram elicited by dim white light was low in amplitude. The photopic b-wave and the photopic flicker responses showed decreased amplitudes in some patients. The scotopic b-wave, normally recorded as a second positive peak when deep red light is used, almost disappeared, leaving only a small, single positive peak, photopic in nature, in the late stages. However, no patient had a nonrecordable electroretinogram. The electro-oculographic light peak/dark trough ratio was abnormal in only a few patients. These results indicate that in snowflake degeneration, functional abnormalities of the retina are milder than those in other progressive primary retinal degenerations typically represented by retinitis pigmentosa.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
9/10. Congenital hereditary sex-linked retinoschisis.A case of juvenile idiopathic sex-linked retinoschisis in a six-month-old child was followed for seven years. The familiar occurrence in males was in agreement with the sex-linked inheritance. The appearance at an early age in the left eye confirmed the congenital nature of the disease and the possibility that the ophthalmoscopic features might be present at birth, at least monocularly. In the right eye the ophthalmoscopial normaility of the vitreous as well as the early and severe abnormality of the electroretinographic findings (normal "a" wave, microvolted "b" photopic wave, extinct "b" scotopic wave and presence of only the first wavelet of the oscillatory potentials) at the initial stage of maculopathy induced the author to suppose that there might be primarily a tapeto-retinal heredodegeneration and that the pseudocystic degeneration of the inner layers could be a secondary manifestation of the disease.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
10/10. fluorescein angiographic findings in familial exudative vitreoretinopathy.We describe the fluorescein angiograms in four cases of familial exudative vitreoretinopathy. The vascular nature of the temporal retinal masses is confirmed. Primary abnormalities within the peripheral retinal circulation are demonstrated. We stress the similarity between familial exudative vitreoretinopathy and retrolental fibroplasia.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
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