Search results for "Retinopathy"
showing 10 items of 198 documents
Multifocal choroiditis: Indocyanine green angiographic features
2001
The aim of this study is to retrospectively evaluate the indocyanine green (ICG) angiographic features in 13 patients affected by multifocal choroiditis. We identified two clinical and angiographic patterns. The ‘active’ pattern showed hypofluorescence up to the late phases and more extensive choroidal involvement than presumed by ophthalmoscopy and fluorescein angiography. In the ‘inactive’ pattern, ICG angiography showed hypofluorescence during all the phases: no increase in lesion number was observed between early and late phases. Choroidal neovascularization was present in 10 patients, and it was bilateral in 2 of these: it occurred only in the inactive stage. The appearance of choroida…
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
2018
Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …
Association of Low Birth Weight With Altered Corneal Geometry and Axial Length in Adulthood in the German Gutenberg Health Study
2019
IMPORTANCE: Low birth weight is associated with altered ocular organ development in childhood, including the morphology of the eye. However, no population-based data exist about this association in adulthood. OBJECTIVE: To evaluate whether low birth weight has a long-term association with anterior segment anatomy and axial length in adulthood. DESIGN, SETTING, AND PARTICIPANTS: The Gutenberg Health Study is a population-based, observational cohort study in Germany. All participants underwent ocular biometry. Among the participants with follow-up and self-reported birth weight available, associations were assessed between low birth weight and anterior segment anatomy and axial length using m…
Clinical patterns and electrophysiological findings in retinal pigment epithelium diseases. Does a correlation exist?
1986
At present it is difficult to distinguish those human chorioretinal diseases in which the retinal pigment epithelium (RPE) is the primary site of dysfunction. This difficulty is caused by several factors such as scarcity of biochemical and histological information and a lack of correlation of basic science information available with the clinical body of knowledge. In the present study we examined 134 eyes at early or late stages of hereditary diseases involving the RPE. We tried to distinguish primary RPE involvement by using standard ERG (a- and b-wave) and EOG testing. We conclude that in general primary RPE damage can be better assessed by current electrophysiology in those diseases whic…
Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene
2020
Abstract Aim The aim of the present study was to identify the affected gene in a French family with maturity-onset diabetes of the young (MODY) using whole-exome sequencing (WES). Methods WES was performed in one patient with MODY, and candidate variants were confirmed in members of the immediate family by Sanger sequencing. Results In the proband, a new heterozygous missense mutation (c.340A>C) was identified in the NEUROD1 gene by WES analysis and confirmed by Sanger sequencing. Additional Sanger sequencing of the proband's sister and mother revealed the same heterozygous mutation. The proband and his sister displayed typical clinical characteristics of MODY, while their mother had the sa…
Immunohistochemical analysis of cellular adhesion molecules (ICAM-1, VCAM-1) and VEGF in fibrovascular membranes of patients with proliferative diabe…
2009
Abstract Purpose Diabetic fibrovascular membranes are the main pathological changes of proliferative diabetic retinopathy that can cause serious complications leading to blindness. Since the mechanism of fibrovascular membrane development is still unknown, the aim of our study was to identify potential biomarkers for this pathology. To this end, we analyzed the simultaneous expression of ICAM-1, VCAM-1 and VEGF within tissues of diabetic fibrovascular membranes. Patients and methods Fibrovascular membranes were taken from nine diabetic patients with proliferative diabetic retinopathy. The fibrovascular membrane specimens were analyzed by immunohistochemistry to determine ICAM-1, VCAM-1 and …
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 …
Elevated protein carbonyl and HIF-1α levels in eyes with proliferative diabetic retinopathy.
2013
Purpose: To evaluate the role of protein carbonyls and hypoxia inducible factor-1a (HIF-1a) in diabetic eyes with proliferative diabetic retinopathy (PDR). Methods: Prospective consecutive controlled observational study was performed. Vitreous samples were collected at the start of the 3-ppp vitrectomy. Protein carbonylation analysis was performed by Western blotting with antibody against 2,4-Dinitrophenol (anti-DNP), following derivatization of protein carbonyls with 2,4 Dinitrophenylhydrazine (DNHP). Protein carbonylation was quantified by scanning densitometry analysis and relativized to the total amount of protein into the ponceau staining of membranes. Vitreous HIF-1 a was determined w…
Study of pituitary secretion in relation to retinopathy in patients with juvenile diabetes mellitus.
1981
Fifteen juvenile diabetic patients with normal eye fundus, 6 with non proliferative retinopathy, 5 with proliferative retinopathy and 5 healthy control subjects were studied in order to investigate pituitary function in relation to diabetic retinopathy. ACTH values at 08(00) and 18(00), hPRL and TSh secretion in response to 200 microgram TRH i.v., and GH secretion in response to 500 mg oral L-dopa were evaluated. In all diabetic subjects, 08(00) ACTH levels were lower than in controls. Basal hPRL, TSH and GH values of the diabetics did not differ from those of the controls. No significant differences were found in hPRL levels in response to TRH, whereas significantly lower TSH responses wer…
Insulin-dependent diabetes mellitus and glycosaminoglycans.
1995
The influence of diabetic nephropathy on urinary glycosaminoglycan distribution was assessed in 96 patients with insulin-dependent diabetes mellitus (IDDM, 49 female, age: 16 - 64 yrs, median 35; duration of IDDM: 0 - 43 yrs, median 13 yrs) in comparison to 103 healthy controls (57 female, 17 - 82 yrs, median 40 yrs). Glycosaminoglycan concentration of 24 h urine samples was determined by means of precipitation with cethylpyridinium chloride and potassium acetate in ethanol followed by a colorimetric test with carbazole. A marked difference (p = 0.0008) in urinary glycosaminoglycan excretion between patients (19.0, 12.4, 35.6 mg/24 h, median, 25th, 75th percentile) and controls (15.8, 10.4,…