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Biomedical subjects

S Uffer

Publications and source records attributed to S Uffer.

At least 19 recordsLinked to original sources
PubMed2005

Idiopathic cyclitic retrolental membrane in children.

BACKGROUND: Cyclitic retrolental membranes (CRM) in children are usually associated with chronic uveitis or genetic syndromes. We report two rare cases of idiopathic CRM. PATIENTS AND METHODS: Two girls aged 9 and 13 years with visual acuities (VA) of 0.05 underwent lensectomy and anterior vitrectomy with dissection of the central part of the retrolental membrane and intraocular lens (IOL) implantation. RESULTS: The clinical evolution was excellent for the 9 year old girl who recovered 1.0 VA after 2 months. Histological examination revealed a fibroelastic tissue of unknown origin without inflammatory components. The 13 year old girl showed VA of 0.6 within 1 month. However, a recurrent CRM developed with retinal detachment and proliferative vitreoretinopathy (PVR). Vitrectomy, complete excision of the CRM and 360 degrees retinotomy with silicon oil tamponade attached the retina with limited visual recovery. Histology showed fibrovascular tissue with inflammatory components infiltrating the CRM. CONCLUSIONS: Idiopathic CRM in children are rare and can be composed of different histological tissues with very different clinical outcomes.

Adolescent↗
PubMed2005

[Optical coherence tomography in Malattia Leventinese].

BACKGROUND: Malattia Leventinese (ML) is a genetically homogeneous macular dystrophy with an autosomal dominant mode of inheritance. Ophthalmoscopically it is recognisable by a radial pattern of drusen-like deposits in the macula and by parapapillary deposits, named Forni's verrucosities. The aim of this study is to describe optical coherence tomographic (OCT) findings and to compare them with histological data. PATIENTS AND METHODS: Six patients underwent ophthalmological examination, angiography and OCT. Diagnosis was confirmed by genetic analysis of the R345W mutation. A histopathological study of an ML donor eye was performed. RESULTS: OCT revealed a diffuse RPE-choriocapillaris thickening with nodular features in the macular and parapapillary areas. The protrusions reached as far as the outer nuclear layer. CONCLUSIONS: OCT is a non-invasive technique that provides a cross-sectional picture of the retina comparable to a histological section. In ML, OCT revealed a diffuse alteration of the RPE-Bruch's membrane complex. The macular and parapapillary nodular lesions are the tomographic equivalents of drusen and Forni's verrucosities.

Adolescent↗
PubMed2004

Multiple intraorbital neurofibromas: a rare cause of proptosis.

BACKGROUND: Orbital neurofibromas are rare, accounting for 0.5 to 2.4 % of all orbital tumors. Generally, they manifest as slowly progressive proptosis, in a young adult or middle-aged person, and are usually solitary lesions. Sometimes, they can be associated with type 1 neurofibromatosis. We present a case of proptosis related to multiple intraorbital neurofibromas in an 82-year-old woman without type 1 neurofibromatosis. HISTORY AND SIGNS: An 82-year-old woman was referred for slowly progressive left proptosis associated with an ocular burning sensation. Neuro-ophthalmic examination revealed 9.5 mm of left exophthalmos, signs of minimal left optic neuropathy but normal extraocular movements. Magnetic resonance imaging revealed the presence of 4 intraorbital lesions. THERAPY AND OUTCOME: The two most anterior tumors were removed. Pathological studies showed these tumors to be neurofibromas. Post-operative evolution was favorable with reduction of left proptosis to 7 mm and disappearance of the burning sensation of the left eye. No other signs of neurofibromatosis were found. CONCLUSIONS: Multiple circumscribed intraorbital tumors are rare. Slowly progressive proptosis with radiological imaging of multiple round lesions should evoke the diagnosis of orbital neurofibromas, even in patients outside the typical age range or without neurofibromatosis.

Aged↗
PubMed2002

Free conjunctival autologous graft for bleb repair and bleb reduction after trabeculectomy and nonpenetrating filtering surgery.

PURPOSE: To describe methods and outcomes of excisional revision of a filtering bleb (bleb revision) using free conjunctival autologous graft either for bleb repair or for bleb reduction after trabeculectomy and deep sclerectomy with an implant. METHODS: Retrospective medical records were reviewed for a consecutive non-comparative case series comprising patients who underwent excisional revision of a filtering bleb between May 1998-January 2001. Excisional revision using free conjunctival autologous graft (bleb revision) was performed either for bleb repair, to treat early and late leaks and hypotony with maculopathy, or for bleb reduction, to improve ocular pain, discomfort, burning, foreign body sensation, tearing, and fluctuations of visual acuity. The revision consisted of bleb excision and free conjunctival autologous graft. The bleb histopathology was analyzed in patients who underwent bleb repair. RESULTS: Sixteen patients were included in the study, consisting of nine patients who had a trabeculectomy and seven patients who had a deep sclerectomy with an implant. Bleb revision was necessary in 14 patients due to leaking filtering bleb (bleb repair), and in 2 patients due to bleb dysesthesia (bleb reduction). After a follow-up of 15.1 +/- 8.4 months, the mean intraocular pressure (IOP) rose from 7.8 +/- 6.3 mm Hg to 14.3 +/- 6.5 mm Hg, and the visual acuity from 0.4 +/- 0.3 to 0.7 +/- 0.3, with a P value of 0.008 and 0.03, respectively. The complete success rate at 32 months, according to the Kaplan-Meier survival curve, was 38.3%, and the qualified success rate was 83.3%. Four patients (25%) required additional suturing for persistent bleb leak. To control IOP, antiglaucoma medical therapy was needed for six patients (37.5%) and repeated glaucoma surgery was needed for one patient. CONCLUSION: Free conjunctival autologous graft is a safe and successful procedure for bleb repair and bleb reduction. However, patients should be aware of the postoperative possibility of requiring medical or surgical intervention for IOP control after revision.

Adult↗
PubMed1999

Adenocarcinoma of the nonpigmented ciliary body epithelium: report of a rare case.

Acquired tumours of the nonpigmented ciliary body epithelium are rare. We present herein a case of low-grade adenocarcinoma in order to stress the problems related to the clinical diagnosis. The tumour in our case was circumscribed, localised on the ciliary body, and nonpigmented. The height of the tumour, measured with ultrasound biomicroscopy, was 3.5 mm. The internal reflectivity of the tumor was homogeneous with low attenuation. The tumour was surgically excised with an uneventful iridocyclectomy. Both clinical presentation and preoperative examinations allowed to circumscribe the correct diagnosis which could be confirmed only with histology.

Adenocarcinoma↗
PubMed1999

On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies.

PURPOSE: Recently, the authors identified a gene, BIGH3, in which different mutations cause a group of hereditary corneal dystrophies: lattice type I and IIIA (CDLI and CDLIIIA), granular Groenouw type I (CDGGI), Avellino (CDA), and Reis-Bücklers' (CDRB). All these disorders are characterized by the progressive accumulation of corneal deposits with different structural organization. Experiments were conducted to determine the role of kerato-epithelin (KE), the product of BIGH3, in the pathogenesis of the diseases. METHODS: KE-15 and KE-2, two rabbit antisera raised against peptides from the 69-364 and 426 - 682 amino acid regions of KE respectively, were used for immunohistology of the corneas obtained after keratoplasty in six CDLI patients, three CDGGI patients, and one CDA patient. RESULTS: The nonamyloid deposits observed in CDGGI stained intensively with KE-15 and KE-2, whereas the amyloid deposits in all analyzed CDLI corneas reacted to KE-2 but not to KE-15. In the CDA cornea, where amyloid and nonamyloid inclusions were present, positive staining with both antisera was observed. CONCLUSIONS: Pathologic amyloid and nonamyloid deposits observed in CDLI, CDGGI-, and CDA-affected corneas are caused by KE accumulation. Different staining patterns of amyloid and nonamyloid deposits observed with antibodies against the amino and carboxyl termini of KE suggest that two mechanisms of KE misfolding are implicated in the pathogenesis of 5q31-linked corneal dystrophies.

Amyloid↗
PubMed1998

[Diagnostic imaging of intraocular lesions in the child].

BACKGROUND: A certain diagnosis, as soon as possible, is indispensable in children with intraocular lesions, the presence of retinoblastoma always being a possibility. PATIENTS: From our casuistic of 418 children since 1970 and from the literature, we currently adopt the following attitude. Where the media are clear, a drawing and fundus photographs are made. Echography is performed in all cases. Ultrasound biomicroscopic examination is carried out in all lesions where involvement of the anterior segment is suspected. RESULTS: Where echography shows no calcifications, computed tomography (CT) is indicated. CT may also enable a possible lesion extension, particularly to the optic nerve, to be studied. CONCLUSIONS: Magnetic resonance imaging (RMI) is the procedure of choice for evaluating secondary retinal detachment, massive extension of retinoblastoma and for detecting any early involvement of the pineal gland (pinealoblastoma), or any other associated lesion. In case of unilateral unifocal sporadic retinoblastoma, however, no CT or MRI is performed, except where there is a suspected extension into the optic nerve or the orbit. Echography remains the most economical, rapid and safest means of diagnosis even in difficult cases.

Brain Neoplasms↗
PubMed1998

[Surgery of sub-foveal neovascular membranes].

BACKGROUND: To present the functional, angiographic and electron microscopic results of 3 patients who underwent surgical removal of a subfoveolar neovascularisation. These patients are representative of the most common indications for subfoveolar surgery. MATERIAL AND METHOD: In one case, the neovascularization originated from an old chorioretinal scar close to the macula; in another case, it was associated with high myopia; in the last case the neovascularization was coupled with an age-related macular degeneration (ARMD). The 3 removal neovascular membranes were examined by electron microscopy. Indocyanine green and fluorescein angiographies were performed in all 3 cases before and after surgery. RESULTS: Visual recovery was excellent in the case of neovasularization and old chorioretinitis scar; it was minimal in the case of high myopia; no objective improvement was found in the case of ARMD. Electron microscopic examination did not always allow to determine accurately if the neovascularization was located in the subretinal space or under the pigment epthelium. CONCLUSIONS: These results match those already published: surgical prognosis is the best when neovascularization is in the subretinal space and when the pigment epithelium has not been damaged by the underlying disease or by the surgical maneuvers. Electron microscopic examination is not easy to interpret.

Aged↗
PubMed1998

[Rhino-orbito-cerebral mucormycosis: clinical presentation].

BACKGROUND: Rhino-orbito-cerebral mucormycosis is an opportunistic rapidly progressive infection affecting almost exclusively diabetic or immunocompromised patients. CASE REPORTS: Three cases are reported. For one patient mucormycosis was the first manifestation of juvenile diabetes and the evolution was favorable. In the second case the infection affected a known diabetic patient and the clinical course was fatal. The third patient was immunocompromised, showed mild clinical features and a rapidly fatal evolution, the diagnosis being made only postmortem. CONCLUSION: These three cases illustrate the wide clinical spectrum of rhino-orbito-cerebral mucormycosis, its serious nature and difficult diagnosis.

Adolescent↗
PubMed1998

Mutation hot spots in 5q31-linked corneal dystrophies.

Mutations in the BIGH3 gene on chromosome 5q31 cause four distinct autosomal dominant diseases of the human cornea: granular (Groenouw type I), Reis-Bücklers, lattice type I, and Avellino corneal dystrophies. All four diseases are characterized by both progressive accumulation of corneal deposits and eventual loss of vision. We have identified a specific recurrent missense mutation for each type of dystrophy, in 10 independently ascertained families. Genotype analysis with microsatellite markers surrounding the BIGH3 locus was performed in these 10 families and in 5 families reported previously. The affected haplotype could be determined in 10 of the 15 families and was different in each family. These data indicate that R555W, R124C, and R124H mutations occurred independently in several ethnic groups and that these mutations do not reflect a putative founder effect. Furthermore, this study confirms the specific importance of the R124 and R555 amino acids in the pathogenesis of autosomal dominant corneal dystrophies linked to 5q.

Chromosome Mapping↗
PubMed1997

[Actinomycetes granuloma of the upper eyelid].

An African 40-year-old woman presented with a superior eyelid tumor. The diagnosis is a granuloma due to Actinomycetae. We briefly describe the pathogenesis, and the ancillary diagnostic methods.

Actinomycetales Infections↗
PubMed1997

Prognostic factors associated with loss of heterozygosity at the RB1 locus in retinoblastoma.

The nature of the tumorigenic mutation was analyzed in 30 retinoblastoma (Rb) tumors (16 non-hereditary and 14 hereditary) and categorized into loss of heterozygosity (LOH) or retention of heterozygosity (non-LOH) at the RB1 locus. These genotypic characteristics were compared with the clinicopathological phenotype for possible correlation. The overall frequency of LOH was roughly 55%, in both hereditary and non-hereditary Rb. The presence of LOH was preferentially associated with differentiated tumors and absence of choroidal invasion. LOH was found in 82% of females versus 33% of males. Finally, LOH-initiated tumors were associated with a significantly younger age at diagnosis in hereditary Rb. In conclusion, the preferential association of LOH with absence of choroidal invasion, tumoral differentiation, and younger age at diagnosis may establish LOH as a prognostic marker in Rb patients.

Biomarkers, Tumor↗
PubMed1996

[Uveal effusion syndrome: clinical and ultrastructural aspects].

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.

Ciliary Body↗
PubMed1996

[Medullo-epithelioma: presentation of 3 cases].

Three cases of medullo-epithelioma are reported from a study of almost 350 cases of retinoblastomas or pseudo-retinoblastomas. The cases concern one female and two male children of 1,5, 2,5 and 6 years of age respectively at the time of diagnosis. Suspected of carrying retinoblastoma, two of the children were enucleated. Histological examination revealed the presence of a benign medullo-epithelioma in one case and a malignant condition in the other. The third case was treated by brachytherapy which led to total destruction of the tumor. A new iridian focus opposite the original tumor appeared one year later and was in turn destroyed by cobalt applicator.

Brachytherapy↗
PubMed1996

Delineation of a 1-cM region on distal 5q containing the locus for corneal dystrophies Groenouw type I and lattice type I and exclusion of the candidate genes SPARC and LOX.

Granular Groenouw type I (CDGG1) and lattice type 1 (CDL1) corneal dystrophies are two distinct potentially blinding conditions. These two entities were recently mapped to a region on chromosome 5q. We have investigated 2 families of Swiss origin with CDGG1 and CDL1 by linkage analysis. Our data show a maximum lod score of 5.38 at theta = 0.00 for marker D5S393 in CDL1 and 4.17 at theta = 0.00 for D5S658 in CDGG1. When combined, these families show a maximum low score of 9.22 for D5S393 at theta = 0.00. This confirms previous reports. Furthermore, we describe a recombination centromeric to D5S399 in a member of the CDL1 family. Haplotype analysis in the 4 branches of the CDGG1 family demonstrated a common chromosomal region including D5S393 and D5S399 in all the affected members. By combining our data with previously reported mapping information and assuming that CDGG1 and CDL1 are allelic manifestations of the same gene, we can refine the location of the CDGG1/CDL1 gene to a 1-cM region on chromosome 5q. Using candidate genes in the 5q22-q32 interval, we investigated the possibility that mutations in the SPARC or LOX genes cause these corneal diseases. Several recombinations occurred between these two genes and CDGG1/CDL1 in our 2 families, thus excluding this hypothesis.

Alleles↗
PubMed1995

[New retinal tumors in hereditary retinoblastoma].

364 eyes from 230 patients with retinoblastoma diagnosed and treated at the Lausanne University Eye Clinic from 1964 to June 1994 were retrospectively analyzed with respect to the risk of developing new tumour foci following initial therapy. Among them, 119 eyes from 90 hereditary affected patients were included, consisting of 86 bilateral cases and 4 unilateral cases. The mean follow-up was 65.5 months (5.5 years). A total of 46 new retinal tumours were detected in 21 patients. These new tumours had a size less than 1 disc diameter in 75% and were peripherally located in 78% of the cases, with a statistically significant preference for the horizontal meridians. No new tumours developed in the macular area. 50% appeared in children younger than 1 year and 80% before 2 years of age. 50% of the eyes with recurrences developed new tumours before 7.5 months following diagnosis, and 75% before 14 months. All patients showing recurrences did so before the age of 4.5.

Adolescent↗
PubMed1994

[Unusual presentation of retinoblastoma].

Among the 185 retinoblastoma patients seen at the Lausanne Retinoblastoma Clinic from 1963-1993, 24 (14%) first presented with another sign than classical leukocoria (60.5%) or strabismus (21.5%). Most of these atypical signs were related to inflammatory complications of unrecognized retinoblastoma; they consisted of low vision (1.5%), hypopyon (2%), ocular redness and pain (1.5%), ocular redness and buphtalmia (1.5%), as well as photophobia and headaches (1.5%). The presence of unexplained chronic ocular signs during childhood should always raise the possibility of an underlying retinal malignancy.

Child↗