Biomedical subjects
Publications and source records attributed to B Piguet.
The authors present an unusual case of exsudative parafoveolar astrocytic hamartome associated with tuberous sclerosis. The spontaneous regression of the serous retinal detachment and of the hard exsudates is described.
Pigment epithelial detachment is usually associated with disorders of the underlying Bruch's membrane and choroid in a context of age-related macular degeneration. In a very few cases, lesions resembling pigment epithelial detachment have been reported after retinal reattachment surgery. We observed an additional case who presented deep lesions several weeks after a scleral buckling procedure for retinal detachment. The lesions, all located posteriorly at the edge of the reattached retina, appeared to be subretinal, well circumscribed and yellowish with a normal overlying retina. All exhibited the typical biomicroscopic features of focal detachment of the retinal pigment epithelium (RPE) but failed to show, throughout the angiogram, the typical fluorescein pooling of the classic pigment epithelial detachment. This suggests that these lesions, though simulating RPE detachments, represent focal pockets of subretinal fluid.
OBJECTIVE: To identify the chromosomal location of the gene involved in the pathogenesis of autosomal dominant radial drusen (malattia leventinese). PATIENTS: Eighty-six members of four families affected with radial drusen; one family of American origin and three families of Swiss origin. METHODS: Family members were clinically examined for the presence of radial drusen. Affected patients and potentially informative spouses were genotyped with short tandem repeat polymorphisms distributed across the autosomal genome. The clinical and genotypic data were subjected to linkage analysis. RESULTS: Fifty-six patients were found to be clinically affected. Significant linkage was observed between the disease phenotype and markers known to lie on the short arm of chromosome 2. The maximum two-point lod score (Zmax) observed for all four families combined was 10.5 and was obtained with marker D2S378. Multipoint analysis yielded a Zmax of 12, centered on marker D2S378. The lod-1 confidence interval was 8 cM, while the disease interval defined by observed recombinants was 14 cM. CONCLUSIONS: The gene responsible for autosomal dominant radial drusen has been mapped to the short arm of chromosome 2. This is an important step toward actually isolating the disease-causing gene. In addition, this information can be used to evaluate other familial drusen phenotypes such as Doyne's macular dystrophy for a possible allelic relationship.
BACKGROUND: Transmitted in an autosomal dominant fashion, the pattern dystrophies involve the retinal pigment epithelium and the external macular retina and are usually divided into four different entities. However, a progression from one form to another is possible, various forms may coexist in the same patient and a combination of different entities may be present in the same family. CASE REPORTS: Two families (4 cases) are described, in which a butterfly dystrophy coexist with a vitelliform dystrophy or with a central atrophy. Whereas the vitelliform dystrophy is usually characterised by a unique centromacular lesion, a case of multiple lesions is described. The possible association with a neovascular membrane is also presented. CONCLUSION: The coexistence of various forms of pattern dystrophies in a same family suggests a variable expression of a same genetic disorder. The presence of a centromacular atrophy in one patient demonstrates also that the spectrum of the disease is not limited to the four classic entities.
PURPOSE: To determine the role of Indocyanin Green (ICG) angiography in localizing occult new vessels associated with age-related macular degeneration (ARMD) and assess the possibilities of ICG guided laser photocoagulations. PATIENTS AND METHODS: Fluorescein and ICG angiographies (IMAGEnet system) of 62 patients with occult new vessels (ONV), serous (SPED) or vascular (VPED) pigment epithelium detachment have been studied. RESULTS: Based on fondoscopic examination and fluorescein angiography, 43 eyes (69%) disclosed ONV, 8 (13%) SPED and 11 (18%) VPED. Choroidal neovascularisation was confirmed by ICG angiography in 37 ONV cases (86%), in 8 (72%) VPED cases, but in no SPED. Conversion of ONV in classical neovascular membranes was possible in 19 ONV cases (44%) and in 6 (54%) VPED cases, making a laser photocoagulation possible in 9 eyes (36%). CONCLUSION: ICG angiography plays an important role in the evaluation, classification and laser treatment of patients with ONV secondary to ARMD.
CASE REPORT: Referred because of a right corneal perforation with cellular reaction in anterior chamber, a patient was sutured and treated with a single intravitreal injection of 0.2 ml (1 mg) Amikacin and 0.2 ml (1 mg) Vancomycin. Whereas the retina was normal before the injection, a diffuse retinal edema with intra- and preretinal hemorrhages was noted 12 hours postoperatively. Visual acuity was markedly reduced. ERG and visual field was also abnormal. CONCLUSION: This case demonstrates that a single intravitreal injection of Amikacin and Vancomycin at usual concentration may induce retinal toxicity with permanent damage.
UNLABELLED: Spontaneous serous detachment of the choroid and ciliary body, together with bullous serous detachment of the retina (uveal effusion syndrome) is a rare but well-defined syndrome frequently associated with nanophthalmos. CASE REPORTS: Based on three cases whose one familial, clinical and ultrastructural characteristics of the syndrome are reviewed and the role of ultrasonic biomicroscopy (UBM) presented. CONCLUSION: The severe and potentially blinding complications encountered after any surgery on these eyes make the recognition of the classical clinical signs and symptoms of the syndrome particularly important. In this context, UBM represents an interesting new tool in terms of diagnosis and pathophysiology understanding.
BACKGROUND: Combined simultaneous occlusion of the central retinal artery and central retinal vein occurs very rarely and has been observed in patients with systemic disorders such as leukaemia. CASE REPORT: We report a case of a young man who suffered a combined retinal vascular occlusion with occlusion of the posterior ciliary arteries following blunt trauma to the face with massive haematoma of the lids. To our knowledge, this is the first time that such a sequence of events has been recorded.
The objective of this study was to fully characterize the macular dystrophy phenotype and genotype in a large family of the Zermatt area of Switzerland. Clinical and molecular studies of the family included a comprehensive eye examination and a mutational analysis of the RDS, rhodopsin, and TIMP-3 genes. In selected cases, fluorescein angiography, perimetry, and electroretinography were performed. Forty-two family members at risk of expressing the maculopathy were studied. Of these, 24 were found to be clinically affected. The severity of macular disease in these patients was clearly age-related and different stages of progression were identified. Central pigmentary alterations were seen in adolescent patients, while patients in their late teens and twenties exhibited drusen-like deposits. Later, these defects formed focal areas of atrophy which eventually led to central geographic atrophy with severe visual loss by the fifth decade and cone-rod dysfunction. The transmission of this condition is autosomal dominant with complete penetrance. The underlying genetic defect is a mutation in codon 172 of the RDS/peripherin gene, a gene expressed in both rods and cones, which results in the substitution of tryptophan for an arginine residue at that position. 'Zermatt macular dystrophy' is a dominant, age-related, progressive macular dystrophy which in later stages resembles atrophic age-related macular degeneration. The size of the family studied allowed definition of the clinical spectrum of this condition and identification of the related genetic defect which allows more precise diagnosis and counseling.
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Hutchinson-Tay choroiditis, Holthouse-Batten chorioretinitis, Doyne's honeycomb familial choroiditis and Malattia levantinese are various names which have been used to denote dominantly inherited drusen. Whether these represent one or more than one disorder remains unclear because of the quality of the illustrations and incomplete information in some of the original articles. The early descriptions of these various conditions have been reviewed. Evidence is presented that Doyne's honeycomb familial choroiditis and Malattia levantinese are disorders which can be distinguished from each other by clinical criteria.
Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is commonly believed to be a benign disease with excellent visual prognosis. Identification of cases with poor visual outcome prompted this retrospective study of 33 eyes of 18 patients with this disorder. Loss of visual acuity at presentation was recorded in 25 eyes (76%), 22 of which had lesions at the fovea. Visual acuity quickly returned to normal or near normal levels (even when it was as poor as counting fingers at entry) in all but 7 eyes of 7 patients, in which visual acuity failed to recover to better than 6/24 over a period of several months. All these eyes had poor acuity and foveal involvement when first seen, and at least one of the following atypical features: age older than 60 years, unilaterality, an interval before involvement of the second eye of at least 6 months, recurrence of the disease, leakage from choroidal vein. One additional patient whose foveae were initially not involved lost vision in one eye because of the development of choroidal neovascularisation. Caution should be exercised in giving a prognosis in cases when the fovea is involved and the acuity markedly reduced, particularly if one or more atypical features is present.
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To evaluate iris color, change of iris color, and iris pigment epithelial defects as risk factors in age-related macular degeneration, we compared 101 patients with age-related macular changes with 102 control subjects in a case-control study. Three of 101 patients (3%) and four of 102 control subjects (4%) had epithelial iris defects. Light iris color during youth was reported by 51 of 101 patients (50.5%) and 42 of 102 control subjects (41.2%) (odds ratio, 1.46; P = .184). Of the 101 patients, 26 (25.7%) noticed their iris color to have become lighter during life compared with six of 102 control subjects (5.9%) (odds ratio, 5.5; P = .0001). At present examination, 63 of 101 patients (62.4%) had light irides compared with 43 of 102 control subjects (42.2%) (odds ratio, 2.27; P = .004). These results suggest that initial light iris color and iris pigment epithelial defects are not associated with an increased risk of age-related macular degeneration, whereas decreased stromal iris pigmentation may indicate a higher risk.
BACKGROUND: In patients with unilateral visual loss related to age-related macular disease, the risk of visual loss in the second eye is documented as being between 7% and 10% per year. The risk is uncertain in those with good vision with each eye and bilateral macular drusen. METHODS: In a prospective study, 126 patients with bilateral drusen were reviewed annually for up to 3 years. Serial fundus photographs and fluorescein angiograms were analyzed independently by two readers in a masked fashion using a standardized grading scheme, including size, number, density, and fluorescence angiographic behavior of drusen. RESULTS: New lesions occurred in one or both eyes of 17 (13.5%) of the 126 patients. The cumulative incidence of exudative or nonexudative lesions was 8.55% at 1 year, at 2 years 16.37%, and 23.52% at 3 years for patients older than 65 years of age. Significant risk factors included the degree of confluence of drusen within 1600 microns of the center of the fovea (P = 0.023), focal hyperpigmentation (P = 0.004), slow choroidal filling (P = 0.023), and focal extrafoveal areas of atrophy of the retinal pigment epithelium (P = 0.042). CONCLUSIONS: The results give an estimate for the incidence of complicating lesions in patients with bilateral drusen and identify those features indicating higher than average risk of visual loss.
Inherited retinal venous beading is a rare autosomal disorder. We describe three affected members in three generations of a single family. It is evident that there may be gross asymmetry of affection between the two eyes, and highly variable expressivity such that the diagnosis may not be evident without a family survey. One patient had remarkable spontaneous recovery of vision.
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