ISSN:1755-375X    

DOI:10.1111/j.1755-3768.1981.tb08727.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Both small splinter haemorrhages of the optic disc and retinal nerve fibre layer (RNFL) defects have been reported to be the first signs of glaucomatous development before visual field defects. In this study their time‐ and location‐based relationship to each other was investigated by means of repeated optic disc stereophotography of 25 patients who showed a disc haemorrhage but no disc and field involvement in their ocular hypertensive eyes. During a mean follow‐up time of 6 years, 8 patients developed glaucomatous damage. Their sequential stereo‐photographs showed that disc haemorrhages preceded both development and progression of RNFL defects. Location of a defect was accurately predicted by the haemorrhage. In 4 patients the first visual field defects were detected with routine perimetry only 1 to 2 years after the RNFL defects had been observed. Three patients still show normal

ISSN:1755-375X    

DOI:10.1111/j.1755-3768.1981.tb08728.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Patients with retinal detachment and their relatives with the same disease (Group F) are compared to a group of unselected cases of retinal detachment from the Swedish population (Group C). The prevalence of bilaterality is greater in Group F. The age‐distribution shows younger patients. Myopic refraction is common. More cases with aphakia, lattice degeneration and large tears are found. All these differences are highly significant. Multiple retinal holes are also significantly more common in Group F. After operation, healing is achieved in 78.8% which is not significantly different in comparison with the cure rate in Group C. (83.4%

ISSN:1755-375X    

DOI:10.1111/j.1755-3768.1981.tb08729.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Four generations of a family with congenital retinoschisis are described. Six male members in the second generation suffer from this disease. The fundus changes in these patients were advanced with marked chorioretinal atrophy. Schisis of the retina was only seen in one of them. Three boys in the fourth generation exhibited retinoschisis with typical macula changes. One had detachment in one eye. ERG was in most cases subnormal or extinguished. Fluorescein angiography showed leakage of dye in 2 patients and one of these had vessel malformation.

ISSN:1755-375X    

DOI:10.1111/j.1755-3768.1981.tb08730.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

In Northern Iceland 38 patients with atrophia areata were investigated, 26 belonging to a pedigree with a dominant inheritance. The atrophy in the retina and choroidea is always bilateral, radiating from the papilla, often symmetrically. The atrophy is slowly progressive, most likely beginning in the retinal pigment epithelium. Usually there is a combined myopia and astigmatism.

ISSN:1755-375X    

DOI:10.1111/j.1755-3768.1981.tb08731.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Among 993 visually impaired mentally retarded persons 86 had microphthalmos or colobomata. The aetiology was prenatal infections in 16 cases, 6 had chromosomal aberrations, syndromes previously described were present in 14, private syndromes in 3. Although the malformation association observed in 36 patients had been previously described, it was imposible to assess whether the individual cases were due to environmental or genetic causes, and in 11 cases the associations were apparently previously undescribed.

ISSN:1755-375X    

DOI:10.1111/j.1755-3768.1981.tb08732.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Fabry's disease is a rare familial disorder of glycolipid metabolism which is caused by a deficiency of a lysosomal enzyme α‐galactosidase. A Finnish family is described in which cornea verticillata was found in the father and 2 daughters. In all cases, there were symptoms suggesting Fabry's disease: febrile episodes the origin of which was not clear, limb pains and, in the case of the father, 20 years of proteinuria with elevated ESR, and hemiplegia and aphasia following a cerebral thrombosis at the age of 43. The diagnosis was confirmed by demonstration of an α‐galactosidase deficit in the serum and urine of all patients. Deficiency of this enzyme leads to abnormally high urinary tri‐ and dihexosyl ceramide levels, and this was observed in the father and the elder daughter. At the age of 12, the daughter had loss of vision in her right eye as a result of occlusion of the central retinal artery. Electron microscopic (EM) examination of the father's dermal angioma suggested Fabry's disease. Computerized cranial tomography of the father revealed not only the cerebrovascular condition but also a disease affecting the white matter of th

ISSN:1755-375X    

DOI:10.1111/j.1755-3768.1981.tb08733.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

A family is described showing small, grouped, red fenestrations of the macular region surrounding an intact foveolar reflex. The disease affected a father and his 2 daughters, and seems to be an autosomal dominant maculopathy. No functional abnormalities were disclosed and fluorescein angiography was normal. This family may represent the second family described with fenestrated sheen macular dystrophy.

ISSN:1755-375X    

DOI:10.1111/j.1755-3768.1981.tb08734.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

By the of aid an extended corpus vitreum fluorophotometric technique, the blood‐retinal barrier permeability for fluorescein was studied in diabetologically well characterizied patients with insulin dependent diabetes mellitus. The method, which involves simultaneous determination of the fluorescein concentration in corpus vitreum and plasma, is described and discussed. A clear correlation was found between the degree of retinopathy and permeability (P). Patients with normal visus, ophthalmoscophy, fundus photo and fluorescence angiography exhibited P‐values of 1·10−7cm·sec−1. This was similar to P‐values found in normal volunteers. Simplex retinopathy without macular oedema showed values of 2.5·10−7cm·sec−1while simplex retinopathy with macular oedema showed P‐values

ISSN:1755-375X    

DOI:10.1111/j.1755-3768.1981.tb08735.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

The report describes a Finnish family in which retinal lesions associated with a considerable visual loss have been found in 19 probands in 5 consecutive generations. The progressive cone‐rod dystrophy diagnosed in the probands shows an autosomal dominant mode of inheritance. The onset of the disease was noticed in most of the probands early during the first decade of life. In the young diseased probands the fundal lesions showed the pattern found in pure cone dystrophies. Elder probands, however, had lesions and dysfunctions indicating an obvious rod involvement in addition to the cone dystrophic pattern. The fundal lesions included very extensive pigmentation in most of the elder probands with the disease. In addition to the retinal lesions, considerable astigmatism and lens opacities at the level of the posterior capsule were found in a great proportion of the proband

ISSN:1755-375X    

DOI:10.1111/j.1755-3768.1981.tb08736.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY