Search results for "Retinitis"
showing 10 items of 92 documents
Ophthalmic Outcomes of Congenital Toxoplasmosis Followed Until Adolescence
2014
BACKGROUND: Congenital toxoplasmosis (CT) can elicit severe damage to several organs, especially the eye, and may be manifested at birth or later. We assessed the long-term ocular prognosis in a cohort of congenitally infected children treated according to a standardized protocol and monitored for up to 22 years. METHODS: This prospective study included confirmed cases of CT, which were identified by obligatory antenatal screening at the Lyon (France) reference center between 1987 and 2008. Data obtained through ocular examinations were recorded on a standardized form and confirmed by an independent external committee. Risk factors for retinochoroiditis were identified by using a multivari…
Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa
2013
Retinitis pigmentosa (RP) is a genetically heterogeneous retinal degeneration characterized by photoreceptor death, which results in visual failure. Here, we used a combination of homozygosity mapping and exome sequencing to identify mutations in ARL2BP, which encodes an effector protein of the small GTPases ARL2 and ARL3, as causative for autosomal-recessive RP (RP66). In a family affected by RP and situs inversus, a homozygous, splice-acceptor mutation, c.101−1G>C, which alters pre-mRNA splicing of ARLBP2 in blood RNA, was identified. In another family, a homozygous c.134T>G (p.Met45Arg) mutation was identified. In the mouse retina, ARL2BP localized to the basal body and cilium-associated…
Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa
1995
Two autosomal dominant retinitis pigmentosa families of different origin were screened for rhodopsin mutations using the method of single strand conformation polymorphism and direct sequencing. We found a CGG-CAG substitution in codon 114 of rhodopsin in both families. This change predicted the replacement of a glycine by an aspartic acid and suggested that this change is the cause of the disease in these families.
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
2011
Abstract Background Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the USH2A gene account for 74-90% of the USH2 cases. Methods To identify the genetic cause of the disease and determine the frequency of USH2A mutations in a cohort of 88 unrelated USH Spanish patients, we carried out a mutation screening of the 72 coding exons of this gene by direct sequencing. Moreover, we performed functional minigene studies for those changes that were predicted to affect splicing. Results As a result, a total of 144 DNA sequence variants were identified.…
Intravitreal foscarnet for cytomegalovirus retinitis in a patient with acquired immunodeficiency syndrome.
1992
We treated a patient who had acquired immunodeficiency syndrome and cytomegalovirus retinitis of the left eye. After anesthetic had been topically administered, the patient received intravitreal injections of 1,200 micrograms of foscarnet. Plasma and vitreous foscarnet levels were measured by high-performance liquid chromatography. Systemic absorption of the drug was not evident. Elimination half-life from the vitreous after one injection was 54.0 hours. Vitreous levels remained above the mean 50% inhibition value for cytomegalovirus for approximately 56 hours and above the mean inhibition value for human immunodeficiency virus for approximately 241 hours. The patient's visual acuity improv…
Aqueous Humor Levels of Vascular Endothelial Growth Factor in Retinitis Pigmentosa
2008
PURPOSE To determine the level of vascular endothelial growth factor A (VEGF-A) in aqueous humors of patients with retinitis pigmentosa (RP). METHODS A prospective, comparative control study. Aqueous humor was collected from 16 eyes of 16 patients with RP. The level of VEGF-A was determined with a commercially available enzyme-linked immunosorbent assay kit. The control group comprised 16 aqueous samples from 16 patients about to undergo cataract surgery and without any other ocular or systemic diseases. RESULTS The concentration of VEGF-A in aqueous humor was markedly lower in patients with RP than in control subjects (Mann-Whitney U test, P < 0.001). The level of VEGF-A was 94.9 +/- 99.8 …
Methodological Aspects of the Application of the Naka-Rushton Equation to Clinical Electroretinogram
1993
The nonlinear relation between stimulus intensity and response amplitude of the electroretinogram (ERG) scotopic b wave can be described by a curve based on the Naka-Rushton (NR) equation. Up to now, the NR equation has been used to assess the features of the normal and pathological ERG, but the best approach for a correct evaluation of the parameters is still debatable. The parameters are thought to be related to the different conditions of retinal activities. The method is well known in experimental laboratories but is quite unusual at the clinical level. In the present paper the derivative analysis of the NR function is proposed as an easier approach to understand the variations of the N…
Intravitreal clindamycin and dexamethasone for zone 1 toxoplasmic retinochoroiditis at twenty-four months.
2009
Purpose To report the anatomic and functional outcomes of intravitreal clindamycin and dexamethasone for the treatment of zone 1 toxoplasmic retinochoroiditis (TRC). Patients had 1 or more of the following indications for local therapy: intolerance to oral medication, contraindication to oral medication because of pregnancy, lack of response despite oral antimicrobial treatment, or treatment with concomitant oral and local therapy to avoid or limit foveal or optic disc involvement. Design Noncomparative, retrospective, multicentric interventional case series. Participants We reviewed the medical records of 12 consecutive patients (eyes) with posterior pole (zone 1) TRC who were treated week…
Prenatal diagnosis of a rhodopsin mutation using chemical cleavage of the mismatch
2002
Objective: Mutations of the rhodopsin gene are responsible for autosomal dominant or recessive retinitis pigmentosa (RP). The present study reports the first prenatal diagnosis performed on chorionic villi biopsy of a pregnant woman affected by a severe form of autosomal dominant transmitted RP, due to the Arg135Trp substitution. Methods: The rhodopsin gene was analysed by automated direct sequencing and, for the first time, by fluorescence-assisted mismatch analysis (FAMA). The latter is an inexpensive, rapid and particularly sensitive method, based on the chemical cleavage of the mismatch in heteroduplex DNA molecules marked with strand-specific fluorophores. Results: FAMA is a feasible p…
Atypical bartonella henselae neuroretinitis in an immunocompetent patient
2014
We report a case of a 57-year-old immunocompetent male, admitted to our Department due to the loss of visual acuity to the right eye, occurred during the two weeks before the hospitalization, and hyperglycaemia. Our patient suffered from metabolic syndrome, characterized by visceral obesity, impaired glucose tolerance, arterial hypertension, complicated by proteinuria, and moderate grade hypertensive retinopathy. Surprisingly, and despite its many comorbidities, the final diagnosis was neuroretinitis by Bartonella henselae, without any other symptoms/signs of cat-scratch disease. The patient denied any kind of contact with cats. He was cured by specific antibiotic therapy, restoring status …