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Biomedical subjects

A Sebastiani

Publications and source records attributed to A Sebastiani.

At least 19 recordsLinked to original sources
PubMed2004

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa.

Purpose To report the clinical association between macular coloboma (early-onset macular dystrophies/atrophic changes) and different phenotypes of retinitis pigmentosa (RP). Methods Three young-adult siblings, two males and one female, were retrospectively studied. These patients underwent two complete ophthalmologic examinations (27-month follow-up), including orthoptic evaluation, colour vision test, visual field, corneal topography, electronystagmography, fluorescein angiography, and electroretinography. Eye check, automated visual field test, and complete electroretinographic study were also conducted on other asymptomatic members of the same family. Results All symptomatic siblings were affected by manifest congenital nystagmus, poor visual acuity, and progressive visual field impairment in both eyes, bilaterally presenting macular coloboma associated with three different RP patterns: classic RP; mild dystrophy of the retinal pigment epithelium, associated with subnormal electroretinographic findings (subclinical form of RP); and sector RP. The ophthalmologic reports regarding their deceased father documented that he had suffered from the same alterations of ocular movements and visual performances diagnosing, in both eyes, extensive atrophic changes of the macular area completely surrounded by pigmented bone spicules (RP-type tapeto-retinal dystrophy). The other investigated relatives did not show any specific and/or significant ocular disorder. Conclusions In these three adult members of the same family, the concomitance between macular coloboma and different intrafamilial RP phenotypes is described. This association represents an autosomal dominant clinical entity, hitherto observed only in non familial sporadic cases.Eye (2004) 18, 421-428. doi:10.1038/sj.eye.6700689

Adult↗
PubMed2003

Quantitative evaluation of the retinal venous tortuosity in chronic anaemic patients affected by beta-thalassaemia major.

AIMS: Retinal venous tortuosity (RVT) is a common finding in patients affected by different forms of chronic anaemia. The aims of this study were to quantify RVT in anaemic patients with beta-thalassaemia major and to verify whether it is related to some of the following parameters: patient's age, ferritin plasma level, and Desferrioxamine (DFX) daily dosage. METHODS: A retrospective study was carried out. In total, 36 consecutive thalassaemic patients, treated with polytransfusion regimen and DFX, were age- and sex-matched with a control group of 36 normal subjects. All subjects bilaterally underwent red-free fundus photography, centred on the optic disc. The four main retinal veins were measured with a computer-assisted method. RESULTS: Mean venous length in the thalassaemic group was significantly greater than that observed in the control group (P <0.001). In thalassaemic patients, no significant correlations between retinal venous length and, respectively, plasma ferritin level and DFX daily dosage were documented. Statistical analysis demonstrated a very significant association between patient's age and increased RVT only in thalassaemic patients (P <0.001). CONCLUSIONS: Our findings demonstrate that patients with beta-thalassaemia major have increased RVT, as compared to normal subjects. In this selected anaemic population, patient's age, closely related to anaemia duration, is the only variable responsible for the RVT increment. This clinical sign indicates a long-standing duration of anaemia.

Adolescent↗
PubMed2001

The heterozygous 20210 G/A genotype prevalence in patients affected by central and branch retinal vein occlusion: a pilot study.

BACKGROUND: Several inherited conditions have been associated with an increased or decreased incidence of retinal vein occlusion (RVO). The A allele in the 20210 G/A prothrombin gene has been found to be associated with systemic venous thrombosis. The aim of this study has been to verify the prevalence of this mutation in patients affected by central RVO (CRVO) or branch RVO (BRVO). METHODS: A retrospective study was carried out on 100 consecutive patients suffering from RVO, more than 50 years old, unaffected by systemic diseases known to be associated with markedly increased RVO occurrence. We determined the frequency of this mutation by performing mutagenised amplification of exon 14 followed by restriction analysis of the amplified DNA fragment. RESULTS: The overall frequency of prothrombin 20210A allele in RVO patients was 6.0%. All heterozygous patients had suffered from CRVO. In this study subgroup, the frequency of the 20210 G/A prothrombin heterozygosis was 12.0%. The difference in the frequency of this the genetic variant between the CRVO and BRVO groups was statistically significant. None of the conventional RVO risk factors were statistically related to the occurrence of the disease in either the CRVO or the BRVO subgroup. CONCLUSION: The prevalence of the prothrombin 20210A mutation observed in CRVO patients is significantly higher than in the normal Italian population. Moreover, the prevalence is significantly greater in CRVO than in BRVO patients. These results raise the possibility that the prothrombin 20210A variant may be considered as a risk factor for CRVO.

Aged↗
PubMed2001

Effect of hinged lamellar keratotomy on postkeratoplasty eyes.

PURPOSE: To evaluate the effect of a hinged lamellar keratotomy on refraction, vision, and corneal topography of postkeratoplasty eyes with high-degree astigmatism. DESIGN: Noncomparative, interventional case series. PARTICIPANTS: A hinged lamellar keratotomy was performed on nine eyes of nine patients at least 9 months after penetrating keratoplasty and with high-degree astigmatism. All patients were spectacle and contact lens intolerant. INTERVENTION: A superiorly hinged lamellar keratotomy (corneal flap), 160 microm in thickness and 9 mm in diameter, was created on all eyes included in this study. Each patient was examined 1 day, 1 month, and 3 months after surgery. MAIN OUTCOME MEASURES: Uncorrected visual acuity, best spectacle-corrected visual acuity, refraction, computerized analysis of corneal topography. RESULTS: At each postoperative examination time, there was a significant reduction in both average spherical equivalent (P < 0.05) and average absolute value of astigmatism (P < 0.01) over mean preoperative values. The major changes were seen as early as 1 day after surgery, but both progression and regression of the effect were documented at later postoperative examinations. In all patients best spectacle-corrected acuity was maintained or improved after the procedure. Postoperatively, four patients could be successfully corrected either with spectacles (n = 2) or with gas-permeable contact lenses (n = 2). There were no surgical flap or corneal graft complications. CONCLUSIONS: Hinged lamellar keratotomy improves vision and refraction of postkeratoplasty eyes with high-degree astigmatism. In some cases it may be so effective as to make planned excimer laser treatment unnecessary.

Adult↗
PubMed2000

Endokeratoplasty as an alternative to penetrating keratoplasty for the surgical treatment of diseased endothelium: initial results.

PURPOSE: To test the feasibility of a new surgical technique aimed at replacing diseased corneal endothelium while minimizing visual recovery time. DESIGN: Noncomparative, prospective, clinic-based, interventional case series. PARTICIPANTS: A total of seven patients with aphakic bullous keratopathy (n = 2), pseudophakic bullous keratopathy (n = 4), or Fuchs' corneal dystrophy (n = 1) participated. INTERVENTION: All patients underwent a surgical procedure including removal of the epithelium, creation of a 9.5-mm corneal flap, substitution of an underlying 6.5-mm button of deep stroma and endothelium with a 7.0-mm donor button, and suturing of the flap back into position using a 10-0 running nylon suture. In the two most recently operated patients, anterior lamella, 160 microm in thickness, was removed from the donor button before transplantation. MAIN OUTCOME MEASURES: Visual acuity, refraction, keratometry, corneal topography. RESULTS: All corneas were clear, and the surface reepithelialized within 4 weeks after surgery. Regular astigmatism of less than 4 diopters was recorded in all cases as early as 4 weeks after surgery. Epithelial interface ingrowth with extensive melting of the corneal flap was observed in one patient 3 months after surgery and was managed by removal of the flap and resuturing of the donor button. CONCLUSIONS: Endokeratoplasty represents a promising alternative to conventional penetrating keratoplasty for patients with diseased corneal endothelium.

Aged↗
PubMed1999

Idiopathic central retinal vein occlusion in a thrombophilic patient with the heterozygous 20210 G/A prothrombin genotype.

PURPOSE: To report the occurrence of monolateral central retinal vein occlusion in a patient with heterozygous 20210 G/A prothrombin genotype, known to be associated with high thrombophilic risk. METHODS: A monolateral central retinal vein occlusion was diagnosed in a 71-year-old woman, who had suffered from a deep vein thrombosis in her left leg at the age of 36 years. Mutations of the genes involved in the coagulation process were investigated by DNA polymerase chain reaction. RESULT: DNA analysis showed the patient to be heterozygous for the prothrombin 20210 G/A genetic variation. CONCLUSION: The 20210 G/A prothrombin gene mutation may be associated with central retinal vein occlusion.

Aged↗
PubMed1998

Treatment of common ocular allergic disorders; a comparison of lodoxamide and NAAGA.

BACKGROUND/AIMS: Lodoxamide tromethamine and N-acetyl-aspartyl glutamic acid (NAAGA) are mast cell stabilisers, both of which have been shown to be effective in the treatment of allergic conjunctivitis. The aim of this study was to compare the two compounds in patients with common ocular allergic disorders. METHODS: 73 patients participated in a double masked, randomised multicentre study. Diagnoses were chronic allergic conjunctivitis, vernal conjunctivitis, seasonal and atopic conjunctivitis. 36 patients were treated with lodoxamide 0.1% and 37 with NAAGA 4.9%, the drops being instilled four times daily for up to 56 days. RESULTS: The overall opinion of the physicians and the patients was in favour of lodoxamide at day 10 of the study. At this time, 86% of lodoxamide treated and 49% of NAAGA treated patients considered they had improved. The patients' opinion favoured lodoxamide at day 28 and both physicians' and patients' evaluations were in favour of lodoxamide at day 42. Evaluation of signs and symptoms indicated superiority of lodoxamide at days 42 and 56. Both treatments were well tolerated. CONCLUSION: While both lodoxamide and NAAGA treatments are associated with clinical improvements in patients with allergic conjunctivitis, lodoxamide may have an earlier onset of action.

Adolescent↗
PubMed1998

Prevalence of retinopathy in diabetic thalassaemic patients.

Thalassaemic patients with diabetes mellitus are at risk of developing retinopathy. To evaluate the prevalence and the characteristics of diabetic retinopathy in thalassaemics we examined 46 patients with beta-thalassaemia major and insulin-dependent diabetes by fluorescein angiography. The study group was matched for sex, age and diabetes duration with a control group of 46 type 1 diabetic patients. Diabetic retinopathy was detected in 26% (12/46) of thalassaemics and in 50% (23/46) of the controls. In thalassaemics the diabetic retinopathy was significantly less severe than in controls (P < 0.0001). The influence of risk factors for diabetic retinopathy (duration of diabetes and metabolic control) was confirmed in the control group. In thalassaemic patients we found no significant correlation between these risk variables and the presence of diabetic retinopathy. Various factors may protect thalassaemics from diabetic retinopathy: heterogeneity of pancreatic functions; high incidence of hypogonadism; contemporary dysfunction of GH and/or glucagon secretion.

Adolescent↗
PubMed1997

Hepatitis C virus infection of salivary gland epithelial cells. Lack of evidence.

BACKGROUND: Hepatitis C virus genome (HCV-RNA) has been detected in whole salivary gland tissue of chronically infected patients. However, contamination of the tissue by plasma or blood cells was not excluded by the previous reports. AIMS: To assess whether HCV infects the salivary gland epithelial cells in patients with chronic HCV liver disease. METHODS: Twenty unselected patients with chronic active hepatitis (11 cases) or active cirrhosis (nine cases) were examined. Serum and saliva samples were obtained from all patients, 12 of whom (seven, chronic active hepatitis; five, active cirrhosis) underwent salivary gland biopsy. PCR for HCV-RNA was performed on RNA extracted from serum, saliva and salivary gland epithelial cells collected by isokinetic gradient separation after trypsin digestion of whole salivary gland tissue. Saliva samples were also examined for the presence of secretory IgA anti-HCV by gel chromatography and ELISA testing. RESULTS: HCV-RNA was detected in all sera with titers ranging from 5.42 x 10(5) genome equivalents/ml to 123.2 x 10(5) genome equivalents/ml. Thirteen patients were infected with genotype 1b, four patients had genotype 1a, two patients had genotype 2a and one patient was unclassifiable. Low titer HCV-RNA (<2 x 10(5) genome equivalents/ml) was detected in 3/20 saliva samples (15%) from highly viremic patients infected with 1b genotype. RNA extracted from salivary gland epithelial cells consistently tested negative for HCV-RNA. In addition, all saliva specimens tested negative for secretory-IgA (S-IgA) anti-HCV, even after a 10-fold concentration of the samples. CONCLUSIONS: There was no evidence that HCV infects the salivary gland epithelial cells in our viremic patients with HCV chronic liver disease. Low level HCV-RNA in saliva is most probably due to virus spillover from blood.

Adult↗
PubMed1997

The corneal endothelium 12 months after photorefractive keratectomy in high myopia.

PURPOSE: To determine if photorefractive keratectomy with a 193 nm excimer laser could cause human corneal endothelial changes, mainly in high dioptric treatments. METHODS: 18 patients underwent a treatment ranging from 7 to 13 diopters at the corneal apex (mean 10.3 +/- 1.4 SD) with an estimated corneal thinning ranging from 62 to 116 microns (mean 90.7 +/- 12 SD). In these patients a comparison between the number and shape of the corneal endothelial cells has been performed before and 12 months after PRK. RESULTS: The mean cell density was 2818 +/- 337 mm2, before surgery, and 2894 +/- 301 mm2 after 12 months. The polymorphic index was 79.0 +/- 2.3, before surgery, and 81.0 +/- 5.0 after 12 months with no significant changes (p = 0.16 and P = 0.09, respectively). CONCLUSIONS: These results show that photorefractive keratectomy does not cause any significant observable damage to the central corneal endothelium up to 12 months after surgery, even in high myopic treatments.

Adult↗