1/6. 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.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/6. Coats-like lesions in Usher syndrome type II.BACKGROUND: An unusual case of Usher syndrome type II associated with bilateral Coats-like exudative retinopathy is described. methods: A 14-year-old boy with congenital sensorineural deafness and normal vestibular functions presented with a recent history of night blindness. He was followed for 3 years with fundus photography, intravenous fluorescein angiography, electroretinography and audiometric testings. His parents refused any form of treatment. RESULTS: Fundoscopy showed bilateral retinitis pigmentosa and a single focus of subretinal exudation and overlying telangiectatic retinal vessels inferotemporal to the vascular arcade in the right eye. He had bilateral mild macular edema. A year later, a similar lesion developed inferotemporally in the left fundus. electroretinography responses, particularly the rod-mediated signals, were significantly reduced. Audiometric studies documented hearing loss in high frequencies. His visual acuity declined from 20/40 to 20/80 RE and from 20/80 to 20/100 LE during follow-up. No new lesions developed. CONCLUSIONS: Coats-type exudative lesions may develop in patients with Usher syndrome type II. Although left untreated, only a minimal increase in exudation occurred over 3 years.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
3/6. Leber's congenital amaurosis associated with high hyperopia in four sisters.The authors describe a family with five daughters, of whom four are affected with Leber's congenital amaurosis and high hyperopia ranging between 5.5 and 9 diopters. In addition, the second daughter is a little short for her age, and shows a slight dyscrania with prominent frontal and occipital bones, hypoplasia of the nasal bone, and deep and narrow orbits leading to marked enophthalmos. The symptoms are typical of Leber's amaurosis. All children have nystagmus, night blindness, weak or absent pupillary reflexes. visual fields are constricted or not measurable. The electroretinogram is extinguished, and hyperopia of the axial type was confirmed by ultrasound. Fundus findings are variable with small, pale and somewhat protruding papillae (pseudo-papillitis), narrow retinal vessels, diffuse fundus pigmentation of pepper-and-salt type and unusual yellow coloration of the macular region (diffuse atrophy). The inheritance of Leber's congenital amaurosis is autosomal recessive. The combined occurrence of amaurosis and hyperopia in four children in one family, while the fifth is unaffected and has no refractive error, furnishes a further evidence for the existence of a particular amaurosis-hyperopia subtype of Leber's disease.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
4/6. Histopathology of Goldmann-Favre syndrome obtained by full-thickness eye-wall biopsy.The first histopathologic specimen form the eye of a patient with Goldmann-Favre syndrome was obtained by full-thickness eye-wall biopsy. diagnosis was established by an early history of night blindness, characteristic clinical features including atypical pigmentary retinopathy, peripheral retinoschisis, opaque "sclerotic-appearing" peripheral retinal vessels, vitreous changes including liquefaction and condensed vitreous bands and a non-detectable electroretinogram (ERG). Histopathologic changes from a 4 mm peripheral area included diffuse degenerative changes involving predominantly the sensory retinal layers with a relatively normal pigment epithelium and choroid. Vascular changes included thickened retinal vessel basement membranes and areas of vascular occlusion. These findings are compatible with a primary photoreceptor involvement in addition to a vascular component. A thick preretinal membrane of glial tissue was an additional finding.- - - - - - - - - - ranking = 2keywords = vessel (Clic here for more details about this article) |
5/6. 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.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
6/6. Snowflake degeneration: an independent entity or a variant of retinitis pigmentosa?We examined eight members of three generations of a family with a history of hereditary retinal degenerative disease. Four affected members have multiple whitish retinal dots resembling snowflakes. Other positive ocular findings in the four members with retinal flakes include myopia, cataract, fibrillary vitreous degeneration with occasional strands, attenuated retinal arterioles, sheathed retinal vessels, occlusion of small retinal vessels, white with and without pressure, annular macular pigment defects, and occasional spicules of pigment. Goldmann perimetry showed irregular annular scotomas in three patients. Electroretinographic response was extinguished in one and subnormal in three. Electro-oculography showed the light rise-to-dark trough ratio to be decreased in the affected patients. Based on results of vitreoretinal biomicroscopy, Goldmann perimetry, and visual electrodiagnostic testing, we suspect that snowflake degeneration may be just a variant of retinitis pigmentosa.- - - - - - - - - - ranking = 2keywords = vessel (Clic here for more details about this article) |