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G de Crecchio

Publications and source records attributed to G de Crecchio.

17 recordsLinked to original sources
PubMed2006

Evaluation of peripapillary detachment in pathologic myopia with en face optical coherence tomography.

BACKGROUND: A newly recognized lesion in pathologic myopia is peripapillary detachment of the retinal pigment epithelium (RPE) and retina. Recently introduced en face optical coherence tomography (OCT) provides not only cross-sectional but also coronal scans of the retina, and allows lateral extent visualization and thickness measurement of lesions. METHODS: Three patients presenting bilateral peripapillary yellow-orange lobulated area in high myopia have been evaluated with fluorescein angiography (FA), indocyanine green angiography (ICGA), en face OCT (OCT/SLO; Ophthalmic Technologies Inc, Toronto, Canada), and Humphrey visual field analyzer. RESULTS: In all eyes, en face OCT has shown the presence of a peripapillary sub-RPE nonreflective area. The lateral extent of this area was clearly detectable and the measurement of its thickness was obtained. We detected a cleft in the RPE at one edge of the cavitation in two eyes, vascular tractions and vitreoretinal tractions in two eyes, a macular hole with posterior retinal detachment, and small areas of RPE detachment nonconnected with the peripapillary detachment in one eye. In the four eyes presenting a proper central fixation, glaucomatous visual field defects were evident. CONCLUSION: En face OCT has allowed to evaluate the thickness and the lateral extent of the peripapillary detachment. Therefore, its use could be important in determining the size and grading of these lesions at first visit, and to detect minimal changes of width and thickness during follow-up as an alternative to fluorescein angiography.

Aged↗
PubMed2006

Visualization of vitreomacular tractions with en face optical coherence tomography.

BACKGROUND: In vitreomacular traction syndrome, an incomplete vitreous detachment with persistent vitreous traction on the macula is present. This condition may determine formation of epiretinal membranes, macular puckering, macular oedema, and traction macular detachment. Recently introduced en face optical coherence tomography (OCT) provides not only longitudinal B-scan but also coronal C-scan images of the retina. METHODS: Fifteen eyes of 11 non-diabetic patients presenting vitreomacular traction syndrome have been evaluated with en face OCT (OTI, Toronto, Ontario, Canada). RESULTS: In 12 eyes, cystoid macular oedema was detectable at fundus examination and was associated with a broad-based adherence of the posterior hyaloid to the macula. In three eyes, foveal detachment appeared to be associated with focal foveal vitreoretinal traction. In all eyes, the lateral extent of the hyaloidal tractions on the macula was clearly detectable at coronal C-scan. They appeared as sigmoid hyper-reflective bands in the hyporeflective vitreous chamber. Overlay of C-scans on red-free confocal images allowed the visualization of the edges of the adherences in relation to the structures of the posterior pole. CONCLUSIONS: The C-scan images allowed clear visualization of the total extension of the posterior vitreomacular adherences and their relationships with the vascular arcades, the optic disc, and the fovea.

Adult↗
PubMed2003

Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.

AIMS: To describe the clinical phenotype of X linked juvenile retinoschisis in eight Italian families with six different mutations in the XLRS1 gene. METHODS: Complete ophthalmic examinations, electroretinography and A and B-scan standardised echography were performed in 18 affected males. The coding sequences of the XLRS1 gene were amplified by polymerase chain reaction and directly sequenced on an automated sequencer. RESULTS: Six different XLRS1 mutations were identified; two of these mutations Ile81Asn and the Trp122Cys, have not been previously described. The affected males showed an electronegative response to the standard white scotopic stimulus and a prolonged implicit time of the 30 Hz flicker. In the families with Trp112Cys and Trp122Cys mutations we observed a more severe retinoschisis (RS) clinical picture compared with the other genotypes. CONCLUSION: The severe RS phenotypes associated with Trp112Cys and to Trp122Cys mutations suggest that these mutations determine a notable alteration in the function of the retinoschisin protein.

Adult↗
PubMed2000

New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.

PURPOSE: To assess the mutation spectrum in the ABCR gene and clinical phenotypes in Italian families with autosomal recessive Stargardt disease (STGD1) and fundus flavimaculatus (FFM). METHODS: Eleven families from southern Italy, including 18 patients with diagnoses of STGD1, were clinically examined. Ophthalmologic examination included kinetic perimetry, electrophysiological studies, and fluorescein angiography. DNA samples of the affected individuals and their family members were analyzed for variants in all 50 exons of the ABCR gene by a combination of single-strand conformation polymorphism analysis and direct sequencing techniques. RESULTS: TenABCR variants were identified in 16 (73%) of 22 mutant alleles of patients with STGD1. Five mutations of 10 that were found had not been previously described. The majority of variants represent missense amino acid substitutions, and all mutant alleles cosegregate with the disease in the respective families. These ABCR variants were not detected in 170 unaffected control individuals (340 chromosomes) of Italian origin. Clinical evaluation of these families affected by STGD1 showed an unusually high frequency of early age-related macular degeneration (AMD) in parents of patients with STGD1 (8/22; 36%), consistent with the hypothesis that some heterozygous ABCR mutations enhance susceptibility to AMD. CONCLUSIONS: Patients from southern Italy with Stargardt disease show extensive allelic heterogeneity of the ABCR gene, concordant with previous observations in patients with STGD1 from different ethnic groups. Half the mutations identified in this study had not been previously described in patients with STGD1. Screening of increasingly large numbers of patients would help to determine whether this can be explained by ethnic differences, or is an indicator of extensive allelic heterogeneity of ABCR in STGD1 and other eye diseases. In 6 (55%) of 11 families, the first-degree relatives of patients with STGD1 were diagnosed with early AMD, supporting the previous observation that some STGD1 alleles are also associated with AMD.

ATP-Binding Cassette Transporters↗
PubMed1998

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.

Two unrelated families with familial exudative vitreoretinopathy (FEVR) show apparent autosomal recessive inheritance rather than the previously reported autosomal dominant or X-linked recessive mode of inheritance. Compared with the other modes of inheritance, the inherited clinical features here include earlier onset (at birth) and a more severe progressive course.

Adult↗
PubMed1990

Choroidal osteoma (osseous choristoma): an atypical case.

A case of choroidal osteoma presenting in a 22-year-old girl is reported. The tumour, unilateral and in a juxtapapillary site, appeared markedly elevated on the retinal plane, not flat or slightly elevated as in previous reports. Visual acuity was not affected, and there was a complete absence of subjective symptoms. Echography, fluorangiography, computerised tomography, and visual field tests were performed. Echography is the best method for identifying and differentiating this lesion from a malignant tumour.

Adult↗
PubMed1986

Congenital retinal macrovessel.

The authors describe a case of congenital retinal macrovessel with decreased visual acuity. Ophthalmoscopy and fluorescein angiography showed the malformation to be congenital and benign.

Child, Preschool↗
PubMed1984

Familial Richner-Hanhart syndrome: genetic, clinical, and metabolic studies.

The genetic, clinical, and metabolic studies of two familial cases of Richner-Hanhart syndrome (type II hypertyrosinemia are described and the findings compared with other familial cases of palmo-plantar keratoderma. The clinical pictures are identical except that in the latter there are not ocular symptoms and the tyrosine levels are not raised. One of the two patients examined was treated with a diet low in tyrosine and phenylalanine with immediate improvement in clinical symptomatology and complete disappearance of the dendritic keratitis.

Adolescent↗
PubMed1977

Crouzon disease in twins. Clinical and pathological contribution.

After a survey of cases in the literature reported, two cases of Crouzon disease, in monovular twins are described. The observation in twins and the opportunity of histologic examination of optic nerve, permitted some considerations in order to help in understanding this syndrome.

Carotid Arteries↗