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1.
Ophthalmic Surg Lasers Imaging Retina ; 53(12): 702-712, 2022 12.
Article de Anglais | MEDLINE | ID: mdl-36547956

RÉSUMÉ

This study describes three unilateral cases of hemorrhagic occlusive retinal vasculitis (HORV) after cataract surgery and a review of the literature until February 2022, including 21 articles reporting HORV cases. Altogether, 61 eyes (41 patients) were included. Twenty patients had bilateral and 21 patients had unilateral HORV. Prophylactic vancomycin was given to all patients. Additional vancomycin use was associated with the worst outcome. The mean time to HORV was 9 days post-cataract surgery. In bilateral cases, the median time between surgeries was 7 days. Visual acuity was < 20/400 in 48%, with no light perception in 20%. Neovascular glaucoma developed in 43%. Central macular thickening or hyperreflectivity of the inner retinal layers on optical coherence tomography was associated with worse outcomes. Corticosteroid treatment, early panretinal laser photocoagulation, or anti-vascular endothelial growth factor therapy, and prophylaxis alternative to vancomycin is recommended. [Ophthalmic Surg Lasers Imaging Retina 2022;53:702-712.].


Sujet(s)
Cataracte , Vascularite rétinienne , Humains , Vancomycine/effets indésirables , Vascularite rétinienne/induit chimiquement , Vascularite rétinienne/diagnostic , Antibactériens/effets indésirables , Hémorragie de la rétine/induit chimiquement , Hémorragie de la rétine/diagnostic , Cataracte/induit chimiquement , Tomographie par cohérence optique
2.
Am J Ophthalmol Case Rep ; 26: 101466, 2022 Jun.
Article de Anglais | MEDLINE | ID: mdl-35265779

RÉSUMÉ

Purpose: To report the successful management of an anterior chamber (AC) infection after penetrating keratoplasty (PK) caused by Candida albicans. Observation: A 53-year-old female had a PK in her right eye. The donor rim tested positive for Candida albicans one week later. Despite initiation of prophylactic topical 1% voriconazole drops, the patient presented with a white mass in the anterior chamber one month later. Biopsy confirmed Candida. Antifungal therapy was intensified with the addition of intravenous fluconazole, and with repeated irrigations of the AC and intracameral administration of amphotericin B (off-label use). After two weeks of apparent lack of treatment response, the infection suddenly quiesced. The final outcome was visual acuity of 0.2 and a clear graft with an endothelial cell density of 2260 cells/mm. 2. Conclusions and Importance: Fungal intraocular infections after PK are usually devastating. Due to low intraocular penetration of topical antifungals, serial intracameral injections were used to maintain a therapeutic concentration of amphotericin B within the anterior chamber, and intravenous fluconazole was administered to protect against the spread of infection into the vitreous. A clinical response developed after two weeks. The reported case represents a favorable outcome using a multimodal approach.

3.
Int J Mol Sci ; 22(3)2021 Jan 22.
Article de Anglais | MEDLINE | ID: mdl-33499149

RÉSUMÉ

Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic GSN variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys. We studied DNA samples of seven members of a two-generation family. Exome sequencing was performed in the proband, and targeted Sanger sequencing in the others. The heterozygous GSN variant p.Glu580Lys was identified in six patients. The patients exhibited corneal dystrophy (5/6), loose skin (5/6) and/or heart arrhythmia (3/6) and one presented with bilateral optic neuropathy. The impact of the mutation on the protein structure was evaluated in silico. The substitution is located in the fifth domain of gelsolin protein, homologous to the second domain harboring the most common pathogenic variant p.Asp214Asn. Structural investigation revealed that the mutation might affect protein folding. Histopathological analysis showed amyloid deposits in the skin. The p.Glu580Lys is associated with corneal dystrophy, strengthening the association of the fifth domain of gelsolin protein with the typical amyloidosis phenotype. Furthermore, optic neuropathy may be related to the disease and is essential to identify before discussing corneal transplantation.


Sujet(s)
Amyloïdose familiale/diagnostic , Amyloïdose familiale/génétique , Gelsoline/composition chimique , Gelsoline/génétique , Mutation , Adulte , Sujet âgé , Neuropathies amyloïdes familiales , Amyloïdose , Maladies de la cornée , Dystrophies héréditaires de la cornée , Exome , Santé de la famille , Femelle , Fond de l'oeil , Études d'associations génétiques , Acide glutamique/composition chimique , Humains , Lysine/composition chimique , Mâle , Adulte d'âge moyen , Nerf optique/anatomopathologie , Atteintes du nerf optique , Phénotype , Pliage des protéines , Tomographie par cohérence optique
4.
J Diabetes Res ; 2017: 3459156, 2017.
Article de Anglais | MEDLINE | ID: mdl-28243608

RÉSUMÉ

Aim. Functional and morphological macular study after cataract surgery in a group of diabetics without diabetic retinopathy compared to nondiabetics to evaluate the effect of surgical oxidative stress on diabetic retina. Methods. Prospective, comparative study. Preoperative eye exam, best corrected visual acuity (BCVA) measured by ETDRS letters, and optical coherence tomography (OCT) were followed by standard cataract surgery. The follow-up visits at 1, 3, and 6 months postoperatively included BCVA, OCT, and microperimetry, to analyze changes within and between the groups. Results. The BCVA improved significantly in diabetics and controls: 64.2 to 81.0 and 61.9 to 82.1 ETDRS at 6 months, respectively. The central macula at OCT significantly thickened in both groups, while the central 5 fields, corresponding to the microperimetry area, subclinically thickened from 284.20 to 291.18 µm at 6 months only in diabetics (p = 0.026). A matching slight decrease in the microperimetry sensitivity from 1 to 6 months was found also only in diabetics, with mean average difference -0.75 dB (p = 0.04). Conclusion. Underlying diabetes does not influence the surgical outcome in diabetics without diabetic retinopathy. However, slight thickening of wider macula and corresponding decrease in retinal sensitivity observed in diabetics 6 months postoperatively might influence visual function on long term.


Sujet(s)
Extraction de cataracte , Cataracte/physiopathologie , Diabète de type 2/physiopathologie , Rétine/physiopathologie , Acuité visuelle/physiologie , Sujet âgé , Sujet âgé de 80 ans ou plus , Cataracte/complications , Cataracte/imagerie diagnostique , Diabète de type 2/complications , Diabète de type 2/imagerie diagnostique , Femelle , Humains , Macula/imagerie diagnostique , Macula/physiopathologie , Mâle , Adulte d'âge moyen , Rétine/imagerie diagnostique , Tomographie par cohérence optique , Résultat thérapeutique
5.
Clin Biochem ; 41(10-11): 869-74, 2008 Jul.
Article de Anglais | MEDLINE | ID: mdl-18454942

RÉSUMÉ

OBJECTIVES: To evaluate the possible synergistic role of partial galactose metabolism defects, high lactase (LPH) genotype and lactose and galactose ingestion in presenile cataract formation. DESIGN AND METHODS: 51 patients with idiopathic presenile cataracts and 172 healthy cataract-free subjects were genotyped to determine their galactose-1-phosphate uridyl transferase (GALT) and LPH status. Whole milk, skimmed milk and yoghurt consumption was recorded in 19 cataract patients and 172 controls by questionnaire. RESULTS: GALT mutations and whole milk consumption increased the risk of cataract formation in high LPH genotype group, but not in lactose intolerant subjects. Logistic regression analysis showed the synergistic effect of GALT and LPH mutations on cataract formation. CONCLUSIONS: High lactase activity genotypes and mutations in galactose-1-phosphate uridyl transferase have a synergistic effect on presenile cataract formation.


Sujet(s)
Cataracte/enzymologie , Cataracte/génétique , Lactase/génétique , Mutation , UTP hexose 1-phosphate uridylyltransferase/génétique , Adulte , Âge de début , Glycémie/métabolisme , Cholestérol/sang , Diabète/sang , Diabète/enzymologie , Femelle , Génotype , Humains , Lactase/métabolisme , Mâle , Adulte d'âge moyen , Valeurs de référence , UTP hexose 1-phosphate uridylyltransferase/métabolisme
6.
J Hum Genet ; 52(2): 123-128, 2007.
Article de Anglais | MEDLINE | ID: mdl-17146587

RÉSUMÉ

Myotonic dystrophy 1 (DM1) is known to diminish reproductive fitness in its severe form. Since no de novo mutations are known for this disease, it has the tendency to become extinct from a population. To explain the preservation of DM1 in a population, a hypothesis that a pool of subjects for the mutated gene exists in the apparently healthy (non-DM1) population was tested. In order to determine the (CTG) repeat number, PCR was performed in 274 patients found to have primary cataract of adult onset who showed no DM1 symptoms, and were not related to DM1 patients. In four cataract patients (1.46%; 95% CI 0.5-3.7), a protomutation in the myotonin protein kinase gene was found which might lead to a complete mutation after transmission through the next generations. The number of (CTG) repeats in the remaining 270 cataract patients did not differ significantly from the control subjects in terms of the distribution of larger [(CTG)n > or = 19] versus smaller [(CTG)n < 19] alleles. We consider the primary cataract patients to be the pool of DMPK protomutation from which DM1 mutation is maintained in the population.


Sujet(s)
Cataracte/génétique , Mutation/génétique , Dystrophie myotonique/génétique , Protein-Serine-Threonine Kinases/génétique , Expansion de trinucléotide répété/génétique , Adulte , Sujet âgé , Sujet âgé de 80 ans ou plus , Études cas-témoins , Femelle , Génotype , Humains , Mâle , Adulte d'âge moyen , Myotonin-protein kinase , Phénotype
7.
Klin Monbl Augenheilkd ; 220(12): 830-4, 2003 Dec.
Article de Anglais | MEDLINE | ID: mdl-14704938

RÉSUMÉ

PURPOSE: In a case control study we determined keratocyte density and size of nuclear area in the central segment of the corneal stroma. METHODS: We compared 20 corneas after keratoplasty with 24 eyes of normal healthy individuals. Both groups were matched according to age. Keratocyte density and nuclear area were analyzed using Nidek Confoscan 2 separately for each group. In corneal graft recipients we studied how the mentioned variables were influenced by age of corneal graft donor (ranged from 4- to 71-years old) and by the time from surgery (8 to 77 months). RESULTS: The comparison of healthy controls and patients with keratoplasty revealed no changes in keratocyte density and the size of nuclear area in central stromal layers. In patients after keratoplasty donor age influenced an increase in keratocyte nuclei area only in the posterior stroma layer (p = 0.042). No such changes were observed in anterior and midstroma layers. Donor age was not found to be significant for keratocyte density in any of the layers. Time from surgery neither influenced changes in keratocyte density nor in keratocyte nuclei area. CONCLUSIONS: In our study using confocal microscopy in vivo we found that corneal grafting does not influence keratocyte density and nuclear area in individual layers of the central corneal stroma segment (anterior, midstroma and posterior layers). Donor age influenced an increase in keratocyte nuclei area only in the posterior stroma layer.


Sujet(s)
Numération cellulaire , Stroma de la cornée/anatomopathologie , Transplantation de cornée , Microscopie confocale , Adolescent , Adulte , Facteurs âges , Sujet âgé , Noyau de la cellule/anatomopathologie , Enfant , Enfant d'âge préscolaire , Femelle , Humains , Mâle , Adulte d'âge moyen , Valeurs de référence , Donneurs de tissus
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