11/478. indocyanine green angiography in Sorsby's fundus dystrophy. PURPOSE: To report the indocyanine green angiographic findings in patients with a fundus dystrophy characterized by subretinal deposits, macular atrophic or neovascular degeneration and peripheral chorioretinal atrophy which is most likely Sorsby's fundus dystrophy. methods: A series of 11 clinically affected patients and 4 asymptomatic carriers, belonging to one autosomal dominant pedigree were examined with stereoscopic funduscopy, fluorescein and indocyanine green angiography. RESULTS: Subretinal deposits were found in 20 eyes of 10 patients. These deposits stained slightly on indocyanine green angiography, causing a reticular pattern. Two eyes had a disciform lesion and 3 geographic atrophy in the macula. A peripheral disciform lesion was found in 1 eye. indocyanine green angiography identified peripapillary choroidal neovascularization in 2 eyes. Peripheral chorioretinal atrophy was found in 8 eyes of 4 patients, associated with peripheral plaques that could only be identified by indocyanine green angiography in 6 eyes of 3 patients. CONCLUSION: indocyanine green angiography in Sorsby's fundus dystrophy may indicate the presence of homogeneously staining, well-demarcated peripheral areas of hyperfluorescence associated with chorioretinal atrophy. These plaques correspond in our opinion to choroidal neovascularization which is otherwise unsuspected. ( info) |
| In a seventy-five-year old man an optic nerve coloboma with generalised retinal degeneration associated with a cystic microphthalmia of the other eye is described. The MR imaging revealed the existence of a left microphthalmic eye with a lower lid cyst. From the other eye an optic nerve coloboma with a cystic ectasia of the coloboma area freely open to the vitreous cavity was apparent. The ERG recorded from this eye was extinguished. ( info) |
| 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. ( info) |
14/478. Unilateral macular retinoschisis with stellate foveal appearance in two females with myopia. Stellate foveal retinoschisis is considered the hallmark of X-linked retinoschisis. We describe the finding of unilateral retinoschisis with stellate foveal appearance in 2 females with myopia who had no evidence of familial disease. Optical coherence tomography (OCT) and fluorescein angiography were obtained in both cases. Neither patient had a family history of low vision, night blindness, or retinal detachment. visual acuity in the affected eyes was 20/50 and 20/25, respectively. Both fellow eyes had normal fundi, except for mild myopic changes. With OCT, widespread retinal splitting was detected at the posterior pole in the affected eyes, whereas the fellow eyes were normal. In one case, OCT showed that foveal retinoschisis represented the macular involvement of a flat inferior retinoschisis, although this was not clinically apparent. Macular retinoschisis with stellate foveal appearance may rarely be associated with pathologic myopia. OCT was useful to establish the true extension of these macular changes. ( info) |
15/478. Reattachment of retina and retinoschisis in pit-macular syndrome by surgically-induced vitreous detachment and gas tamponade. The origin of the subretinal fluid in pit-macular syndrome is unknown. Using optical coherence tomography, the authors observed that an optic disk pit is not a true pit but a cystic cavity covered with a superficial layer of the optic disk in a patient with retinal detachment and retinoschisis. The cyst was connected to the intraretinal space of the retina, which was split in several layers, or the retinoschisis in the papillomacular area. vitrectomy and gas tamponade were performed to treat the patient. During surgically-induced vitreous detachment, strong vitreoretinal attachment at the disk margin and the fovea was observed. After surgery, the cystic space at the optic disk disappeared and the retinal detachment and retinoschisis reattached. Vitreous traction may play a role to introduce the fluid from the optic cyst to the subretinal space through the superficially split retina. ( info) |
| The authors describe a myopic patient with a full-thickness macular hole that was accompanied by both retinal detachment and retinoschisis. A 51-year-old woman presented with a localized retinal elevation of three disc diameters around the macular hole in a myopic eye. Optical coherence tomography (OCT) showed features of both retinal detachment and retinoschisis. After vitreous surgery and postoperative intraocular gas tamponade, the macular elevation resolved, and separation of the neurosensory retina from the retinal pigment epithelium band disappeared on the OCT images. OCT is a useful tool for examining macular conditions associated with a macular hole in myopic patients. ( info) |
17/478. 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. ( info) |
18/478. Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family. A genealogical link was established six generations back between a family living in england and australia, and one of the families reported originally by Sorsby et al (1949) as suffering from autosomal dominant inflammatory macular dystrophy (fundus dystrophy). The onset--in the fifth decade of life--and the progress of the condition, which usually ends in blindness, has been observed in a number of patients and the prodromal development of a colour vision deficiency in some of them confirmed. This defect is fundamentally different from the X-linked colour vision defects and merits further investigation. ( info) |
19/478. An unusual central retinal dystrophy associated with ichthyosis vulgaris. A number of ichthyosis syndromes may have retinal abnormalities such as the retinitis pigmentosa-like diffuse rod-cone dystrophy in Refsum's syndrome and the maculopathy in sjogren-larsson syndrome. We present two sisters who have an unusual, almost identical, bilaterally symmetric central retinal dystrophy associated with ichthyosis vulgaris in the absence of other systemic disorders. We believe that this dystrophy has not been previously described in patients with any of the known varieties of ichthyosis. ( info) |
20/478. Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG. Intensity-series rod and cone ERGs were recorded in 19 patients with XLRS and 26 control eyes. All patients were examined by one ophthalmologist and diagnosed on the basis of fundus appearance and evidence of the disease in other males in the same family. Mutations in the XLRS1 gene have been identified in 15 of the patients. Dark-adapted ERGs were significantly different from controls for all test conditions and for both a-wave and b-wave responses. Abnormalities were detectable in all patients but there was considerable variation in the severity of abnormality. One third of the patients had the dark-adapted 'negative-wave' response typically associated with inner retinal disorder, but about one third showed only mild depression of the b-wave while the remainder had abnormally low a-waves in addition to depressed b-waves. light-adapted responses were also affected and both a-wave and b-wave responses differed significantly from controls, but the 'negative-wave' response was not seen in any patient. The severity of the ERG abnormality did not correlate with the classification of fundus appearance or patient age suggesting that retinal function is relatively stable throughout life. The severity of ERG abnormalities did not correlate with the type of mutation and responses could differ between affected males within the same family. These results indicate considerable heterogeneity of ERG response without clinical, age or genetic correlate. The abnormal a-wave responses indicate that photoreceptor as well as inner retinal layer function may be affected in XLRS, at least in some patients. ( info) |