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X-linked familial exudative vitreoretinopathy. Report of one family.

BACKGROUND: Familial exudative vitreoretinopathy is an uncommon heredodegenerative disease with different types of inheritance and degrees of severity. METHODS: Findings in five affected members of a family in which the X-linked mode of inheritance of familial exudative vitreoretinopathy is present are discussed. RESULTS: Patients presented with characteristic retinal exudative tractional detachment, temporal retinal vessel traction, capillary dilatation, neovascularization, and vitreous veils. CONCLUSION: A review of the 21 cases of X-linked familial exudative vitreoretinopathy reported to date indicates a worse outcome in this mode of inheritance than in cases of autosomal dominant inheritance.

Adolescent↗

[Congenital retinal macro-vessel].

This is to show the case of a 40 year old patient, where a congenital retinal macro-vessel was found, the peculiarities of which are increased calibre, intersection of the macular area, arteriovenous shunts and lack of functional disturbances. The disease is rare and its lesional and functional stability is remarkable.

Adult↗

Increased vascular endothelial growth factor (VEGF) and transforming growth factor beta (TGFbeta) in experimental autoimmune uveoretinitis: upregulation of VEGF without neovascularization.

Experimental autoimmune uveoretinitis (EAU) was induced in Lewis rats and B10.A mice by immunization with S-antigen (S-Ag) to study the potential roles of vascular endothelial growth factor (VEGF) and the beta1 and beta2 isoforms of transforming growth factor (TGFbeta1 and TGFbeta2) during the progression of the disease. VEGF has been implicated as an angiogenic factor in ischemic retinopathies; however, Lewis rats developing EAU have high levels of VEGF in the retina, but no neovascularization. In the present study, immunohistochemical staining for VEGF, TGFbeta1 and TGFbeta2 was performed on the retinas of Lewis rats developing EAU or with oxygen-induced ischemic retinopathy. In rats immunized with S-antigen, a marked upregulation of VEGF was immunohistochemically visualized from the inner nuclear layer to the inner limiting membrane prior to blood-retinal barrier (BRB) failure and lymphocytic infiltration. VEGF is normally induced by hypoxia and its induction leads to neovascularization. Coincident with the increase in VEGF, there was increased immunoreactivity for TGFbeta1 and TGFbeta2 within the same layers of the retina. In contrast, rats with ischemic retinopathy and retinal neovascularization showed only a modest increase in VEGF immunoreactivity, which is largely confined to retinal ganglion cells and inner retinal vessels, and little or no increase in TGFbeta1 or TGFbeta2. In addition, in mice developing EAU, which does not have an abrupt onset as it does in rats and may involve neovascularization, a comparable upregulation of VEGF in the inner retina to that seen in rats developing EAU occurs with no increase in TGFbeta1 or TGFbeta2. Since TGFbeta can inhibit endothelial cell proliferation, it is likely that an increase in TGFbeta may prevent VEGF from exerting its endothelial growth activity in the rat EAU model, but VEGF may be operative in inducing BRB failure. These data suggest that there is a complex interaction among growth factors in the retina and that retinal neovascularization may require an imbalance between stimulatory and inhibitory factors.

Animals↗

Exudative retinal detachment in retrolental fibroplasia.

Four cases of exudative retinal detachment associated with retrolental fibroplasia are presented. The exudation appears to be secondary to leakage from neovascularization as well as vitreous traction on normal retinal vessels. The range in age of onset was between 13 and 17 years, with three of the four cases occurring in patients 23 years of age or younger. Treatment is directed at eliminating the abnormal vasculature which, in our experience, has been accomplished best by an encircling scleral-buckling procedure. One patient, however, required vitrectomy because of the severe vitreous membranes and traction which were present.

Adolescent↗

Serum hyperviscosity syndrome associated with multiple myeloma in two cats.

Serum hyperviscosity syndrome was diagnosed in 2 cats with multiple myeloma. Clinical signs included pale mucous membranes, dehydration, retinal hemorrhages, dilated and tortuous retinal vessels, seizures, head-tilt, nystagmus, systolic murmur, and gallop rhythm. Laboratory abnormalities included hyperglobulinemia, azotemia, hyperphosphatemia, nonregenerative anemia, and thrombocytopenia. Both cats had IgG monoclonal gammopathy, Bence Jones proteinuria, increased numbers of bone marrow plasma cells, and high values for relative serum viscosity. Renal disease was suspected in both cats. Cardiac hypertrophy was documented in 1 cat and was suspected in the other cat. Chemotherapy, using melphalan, prednisone, and vincristine, caused short-term remission in both cats, and plasmapheresis was used to lower serum protein concentration in 1 cat. Serum hyperviscosity syndrome rarely develops in cats, but should be suspected when monoclonal gammopathy exists with signs of neurologic, cardiac, or retinal disease.

Animals↗

Familial foveal retinoschisis associated with a rod-cone dystrophy.

A brother and sister born of a consanguinous marriage had bilateral foveal retinoschisis and a generalized rod-cone dysfunction. This was associated with nyctalopia, hyperopia, minimal vitreous opacities in the sister, a paramacular tapetal sheen reflex, normal retinal vessels, an abnormal electroretinogram, and a normal electro-oculogram in the less affected brother. Foveal retinoschisis is not pathognomonic for x-chromosome-linked juvenile retinoschisis. It may be seen as a manifestation of a macular dystrophy or associated with a generalized tapetoretinal dystrophy.

Adult↗

Diagnostic features of the Favre-Goldmann syndrome.

Extensive retinal vascular disease was noted in three patients from two families with Favre-Goldmann syndrome. In addition to classical features they had pronounced leakage from some retinal vessels. Vessels were either opaque ('sclerotic') or non-perfused. Cystoid macular oedema was a contributing cause of decreased vision. Two of the three patients showed a discrepancy on electroretinography between single-flash photopic amplitudes and flicker fusion frequency. This may be characteristic of Favre-Goldmann syndrome.

Adult↗

Proliferative vitreoretinopathy in Coats' disease. Clinicohistopathological case report.

We report the clinicohistopathological findings of the proliferative vitreoretinopathy in an eye with Coats' disease using the tissue obtained during surgery. A 28-year-old man, who had experienced poor vision in his right eye for a period of 4 years, was referred to our hospital. Examination revealed an extensive yellow exudate in the subretinal space and a tractional retinal detachment. Prominent teleangiectatic retinal vessels were also temporally present. Evident epiretinal membranes were present in the postequatorial area. We performed a scleral buckling, vitrectomy, membrane peeling, endophotocoagulation and silicone oil tamponade. A histological examination revealed that the epiretinal membrane consisted of collagen fibers, glial proliferation, foam cells and lymphocytes. The foam cell in the epiretinal membrane is a characteristic finding in an eye with Coats' disease.

Adult↗

Central retinal vein occlusion in young adults (papillophlebitis).

We performed a retrospective study of 103 cases of central retinal vein occlusion (CRVO) in young, nondiabetic adults that were followed for at least six months. Of these patients, 64% were men and 36% were women. While visual acuity was usually good, 33 eyes (32%) had a final visual acuity of 20/200 or worse, including 6 eyes (6%) with a final visual acuity of no light perception. Ocular complications included chronic cystoid macular edema, macular pigmentary changes (37%), sheathing of retinal vessels (22%), venous collaterals of the disc (33%), macular hole formation (1%), neovascularization of the disc (1%), retina (1%), and iris (19%), neovascular glaucoma (8%), and vitreous hemorrhage (7%).

Adolescent↗

Posterior ischemic optic neuropathy. III. Clinical diagnosis.

14 cases of posterior ischemic optic neuropathy (PION) were clinically analyzed, in whom we excluded known etiologies of optic nerve disturbances and confirmed the decreased blood supply to the posterior portion of the optic nerve. On the basis of our clinical findings, we have proposed the following criteria for the diagnosis of idiopathic PION: (1) sudden onset of unilateral visual disturbance in older patients; (2) normal optic disc, subsequently developing simple optic atrophy; (3) hypertensive and arteriosclerotic changes in the retinal vessels; (4) varying degrees of impaired vision, variable visual field defects; (5) associated systemic disease such as hypertension, diabetes mellitus, hyperlipemia, hypotension, etc.; (6) exclusion of other demonstrable causes of optic nerve disturbances, and (7) confirmation of abnormal hemodynamics in the posterior portion of the optic nerve by carotid angiography, ophthalmodynamography, ophthalmodynamometry and fluorescein fundus angiography.

Adult↗

Development of an integrated automated retinal surgical laser system.

Researchers at the University of Texas and the USAF Academy have worked toward the development of a retinal robotic laser system. The overall goal of this ongoing project is to precisely place and control the depth of laser lesions for the treatment of various retinal diseases such as diabetic retinopathy and retinal tears. Separate low speed prototype subsystems have been developed to control lesion depth using lesion reflectance feedback parameters and lesion placement using retinal vessels as tracking landmarks. Both subsystems have been successfully demonstrated in vivo on pigmented rabbits using an argon continuous wave laser. Preliminary testing on rhesus primate subjects have been accomplished with the CW argon laser and also the ultrashort pulse laser. Recent efforts have concentrated on combining the two subsystems into a single prototype capable of simultaneously controlling both lesion depth and placement. We have designated this combined system CALOSOS for Computer Aided Laser Optics System for Ophthalmic Surgery. Several interesting areas of study have developed in integrating the two subsystems: 1) "doughnut" shaped lesions that occur under certain combinations of laser power, spot size, and irradiation time complicating measurements of central lesion reflectance, 2) the optimal retinal field of view (FOV) to achieve both tracking and lesion parameter control, and 3) development of a hybrid analog/digital tracker using confocal reflectometry to achieve retinal tracking speeds of up to 100 dgs. This presentation will discuss these design issues of this clinically significant prototype system. Details of the hybrid prototype system are provided in "Hybrid Eye Tracking for Computer-Aided Retinal Surgery" at this conference. The paper will close with remaining technical hurdles to clear prior to testing the full-up clinical prototype system.

Animals↗

[Retinal vasculitis with multifocal chorioretinitis].

Multifocal retinochoroiditis was diagnosed in 16 patients (13 female, 3 male). The patients also had cells in the vitreous, and in some cases pronounced retinal vasculitis, cystoid macular edema and papilledema. The patients' ages ranged from 62 to 77 years. There was anterior segment involvement in 13 cases. One patient had subretinal neovascularization in both eyes. Fluorescein angiograms revealed leaks from the retinal vessels, papilledema, and macular edema. So far, the authors have not succeeded in classifying the changes described as belonging to a known disease entity. The findings most closely resembled a disease described by Dreyer and Gass in 1984 as "multifocal choroiditis and panuveitis". Similar changes were seen by Tiedemann in 1987, in patients with Epstein-Barr viral antibodies.

Aged↗

Iris colour, optic disc dimensions, degree and progression of glaucomatous optic nerve damage.

PURPOSE: To evaluate whether iris colour influences size and shape of the optic nerve head and risk for glaucoma progression. METHODS: The hospital-based observational study included 1973 eyes of 1012 Caucasian subjects with ocular hypertension or chronic open-angle glaucoma. For all patients, colour stereo optic disc photographs were evaluated, and corneal pachymetry and achromatic perimetry were performed. Main outcome measures were optic nerve head parameters, the development or progression of visual field defects and iris colour. RESULTS: In most of the study groups, size of the optic disc, neuroretinal rim, alpha zone and beta zone of parapapillary atrophy, retinal vessel diameter and central corneal thickness did not differ significantly between eyes with blue, green, brown and mixed iris colour. In the normal-pressure glaucoma group, neuroretinal rim area was smallest in the population with mixed-coloured eyes and largest in the group of eyes with brown irides (P = 0.001 after correction for inter-eye dependency and multiple testing). For the ocular hypertensive subjects and glaucoma patients with follow-up examinations, the rate of development or progression of glaucomatous visual field loss was not significantly associated with iris colour (P = 0.060). CONCLUSIONS: In Caucasian subjects, iris colour does not have a major association with the size of the optic nerve head structures, central corneal thickness and retinal arterial diameter. In Caucasian patients with ocular hypertension or chronic open-angle glaucoma, an influence of iris colour on the risk for development or progression of glaucomatous visual field defects could not be confirmed.

Adolescent↗

Clinical findings on the use of long-term heavy tamponades (semifluorinated alkanes and their oligomers) in complicated retinal detachment surgery.

BACKGROUND: Heavy tamponades for pathologies in the lower part of the retina are a new development, and different tamponades have recently come into clinical use: semifluorinated alkanes (F(6)H(6), F(6)H(8)) and their oligomers (OL62HV). METHOD: Nine patients had been operated on using F(6)H(8) (n=5) and by OL62HV (n=4). In all cases the reasons for using the tamponades were complicated retinal detachments in the lower part. In three cases the use was primary and in six cases tamponades were used after reoperations. In all cases the endotamponade was removed within 6 weeks. Fluorescein angiography (FLA) was performed in the F(6)H(8) group. RESULTS: In the F(6)H(8)group dispersion developed in two of the three aphacic patients. In two out of five cases soft epiretinal membranes and cellular material could be found between the substance and the lower periphery. In two membranes examined by light microscopy, cystic cells and amorphous material could be found. In one case (PDRP, aphacic) cyclophotocoagulation had to be performed because of persistent elevated IOP. FLA was unremarkable. In the OL62HV group, severe recurrent PVR reaction occurred in the lower periphery (2/4) and unusual precipitates were observed (4/4). In one case, after a normal postoperative period (VA 0.05 after 5 days) an extensive cellular reaction on the complete surface of the tamponade occurred. After 5 weeks VA was no light perception. During removal of the oligomer unusual adherent cellular components were found on the surface of the retina. The retina appeared necrotic, showed constricted retinal vessels and there was optic atrophy. Histologically, fluffy epiretinal material and a lens capsule obtained from one eye filled with OL62HV resembled the appearance with F(6)H(8). CONCLUSION: Heavy endotamponades on the basis of semifluorinated alkanes can lead to an unusual biological reaction and need further investigation before clinical use.

Adult↗

Idiopathic nonvascularized epiretinal membranes in young patients: report of six cases.

Idiopathic epiretinal membranes were observed in six patients, all under 35 years of age. The clinical features were similar to those of idiopathic epiretinal membranes seen in older age groups. The center of the membrane was located over a large retinal vessel in five of the patients. Follow-up periods, mostly without surgery, ranged from four months to nine years. Fluctuating levels of vision were observed, but the vision eventually improved in three patients, and remained stable in two others. In one patient the vision worsened, and vitreous surgery was used to remove the epiretinal membrane, resulting in improved vision.

Adolescent↗

Retinal fluorescein angiography and hemoglobin A1C in borderline diabetes.

In a controlled study fluorescein angiography of the retina and measurements of hemoglobin A1C were carried out in subjects with slightly abnormal two-hour glucose tolerance and controls with normal glucose tolerance. Fluorescent dots were present in 50 per cent of the series with a reduced glucose tolerance. Leakage from retinal vessels was noted in 20 per cent. In the control group fluorescent dots were present in 25 per cent, of whom none showed leakage. In neither of the series did any subject display ophthalmoscopically visible signs of diabetic retinopathy. In the subjects with abnormal glucose tolerance the mean concentration of hemoglobin A1C was 5.88% +/- 1.15 (SD) and in the control group 5.11% +/- 0.85 (SD) (P less than 0.05) . No correlation was demonstrable between the number of fluorescent dots, hemoglobin A1C and age in the group with abnormal glucose tolerance, but a relationship was noticed between a hereditary disposition to diabetes mellitus and presence of fluorescent dots. Smoking appeared not to have any influence. The result of the present study indicates that incipient retinal microvascular changes and evidence of an early breakdown of the blood-retinal barrier may be present in subjects before diabetes becomes manifest.

Diabetes Mellitus↗

The retinal manifestations of mitochondrial myopathy. A study of 22 cases.

In a series of 61 patients with the morphologic and histochemical features of mitochondrial myopathy, 22 (36%) had pigmentary retinopathy. Three patterns of retinopathy were identified. Eighteen patients had a "salt and pepper" type of retinal appearance, which was usually associated with good visual function. Two had many features of retinitis pigmentosa, and two others showed generalized loss, or atrophy, of the retinal pigment epithelium and choriocapillaris. These last four patients had markedly reduced visual acuities, with optic atrophy and attenuated retinal vessels. Electroretinography and electro-oculography were performed in 11 patients. Both rod and cone mediated electroretinographic functions were subnormal in eight patients, while only cone mediated functions were depressed in the remaining three. The electro-oculographic changes were variable.

Adolescent↗

Unilateral ocular vascular stress in man and retinal responsivity in the contralateral eye.

Autoregulation (AR), the capacity of retinal vessels to maintain a constant flow of blood during alterations in vascular perfusion pressure, has been studied by a variety of techniques. Psychophysical and electrophysiological procedures have been used as indirect measurements of the effectiveness of AR for maintaining normal visual function during altered ocular perfusion pressure (OPP) in a single eye. However, there have been no studies in normal subjects which have investigated the responsivity of the contralateral eye while the fellow eye undergoes transient vascular stress. In the present study, the components of the bilaterally recorded scotopic flash electroretinogram (ERG) were used as objective indices of visual neural function during transiently altered OPP. The principal finding was that a decrease in the OPP for the test eye was associated with a reversible attenuation of the retinal responsivity in that eye, and a supranormal oscillatory potential index in the contralateral eye. The existence of a central control mechanism, triggered at the eye level, may be responsible for this contralateral neural phenomenon.

Adult↗