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Biomedical subjects

P Dighiero

Publications and source records attributed to P Dighiero.

At least 19 recordsLinked to original sources
PubMed2003

[Leber's idiopathic stellate neuroretinitis: about two cases].

BACKGROUND: Described by Theodore Leber in 1916, this syndrome is characterized by unilateral visual loss, optic disc swelling and a stellate pattern of exudative deposits in the macula. MATERIAL AND METHODS: Two young adults were examined for sudden unilateral visual loss preceded by a flu-like syndrome. Fundus examination revealed a swollen optic disc and a macular star, visualized on fluorescein angiography. Visual field, laboratory tests and cranial and orbital tomodensitometry were performed. RESULTS: Visual field examination showed a centrocecal scotoma. Laboratory tests showed inflammatory syndrome in one case. Serology testing (leptospirosis, cat scratch disease, toxoplasmosis and syphilis, etc.) were negative. Tomodensitometry of the brain and orbits gave normal results. One of the patients was treated with intravenous steroid boluses; the other received no treatment. A few weeks after the beginning of symptoms, the swelling of the optic disc seemed to have declined, leaving the macular star unchanged. CONCLUSION: These two cases typically describe Leber's idiopathic stellate neuroretinitis. The prognosis for visual recovery is usually reported to be excellent, but visual sequelae have been described.

Adolescent↗
PubMed2003

[Atypical Cogan syndrome].

Atypical Cogan syndrome is a systemic vascular disease close to Cogan syndrome. It is characterized by different ocular manifestations associated with Ménière-like audiovestibulatory dysfunction with symptoms arising more than 2 years before or after the ocular abnormalities. We report the case of a 63-year-old woman whose ocular manifestations involved alternating scleritis, myositis and uveitis associated with audiovestibulatory signs, and the onset of ocular muscle and nerve palsies. In the light of this observation, we discuss the clinical characteristics, diagnostic means, differential diagnoses and therapeutic modalities of this syndrome.

Deafness↗
PubMed2003

[Hypertrophic eyelid conjunctival scar. A tarsal keloid].

The clinicopathologic case of a 53-year-old female patient with an abnormal tumor growing on the mucous part of the superior right eyelid is reported. The patient was operated on for ten years ago and a whitish mass slowly developed on the conjunctival face of the eyelid disturbing the use of corneal lenses. It was hard, painless and had the shape of a flat mushroom. The removal was performed under local anesthesia and allowed us to resect a hard and fibrous lesion. Histopathology showed that the lesion was made of a fibrous tissue organized like a hypertrophic scar. Surgical treatment of chalazion is frequent and rarely gives rise to abnormal scarring.

Cicatrix↗
PubMed2003

[Lymphoma revealed by isolated obliquus inferior muscle involvement in exophthalmia].

Orbital lymphomas account for 4% of nontraumatic orbital disorders. We report the case of a 54-year-old patient who presented with binocular diplopia associated with right exophthalmia with an isolated obliquus inferior localization. This lymphomatous localization was unexpected, as lymphomas are described more often in the rectus superior and inferior muscles. Pathological examination found a low-grade non-Hodgkin's MALT lymphoma. This case is the basis of a review of the various diagnoses and the necessity of a biopsy prior to surgical tumor ablation that may damage an oculomotor muscle. Treatment should be medical: first-intention surgery would have abolished obliquus inferior function.

Biopsy↗
PubMed2002

[Phototherapeutic keratectomy for the treatment of Cogan's microcystic dystrophy].

PURPOSE: This retrospective study was designed to investigate the therapeutic potential of phototherapeutic keratectomy (PTK) for the treatment of map-dot-fingerprint corneal dystrophy (MDFCD). PATIENTS AND METHODS: PTK was performed with the Excimed UV 200 and with the Nidek EC5000 on 38 patients (55 eyes). Mean patient age was 51 years (range, 28-86 years). The mean follow-up period was 19 months (range, 8-54 months). The treatment goal for each patient was to improve vision (17 eyes), to heal recurrent corneal erosions (28 eyes) or both (10 eyes). RESULTS: In 13 of 17 eyes (76.47%) with reduction in visual acuity, best corrected visual acuity (BCVA) improved by two lines or more. In 36 eyes of 38 (94.7%) with recurrent corneal erosions, there was no recurrence during the follow-up period. No decreased BCVA was noted. No recurrence of corneal dystrophic changes was seen in the ablation zone at the final follow-up. The mean hyperopic shift caused by tissue ablation was +O.55+/-1.35 after 1 year. CONCLUSION: Excimer laser PTK is a safe and effective outpatient treatment and should be used as initial treatment for MDFCD.

Corneal Dystrophies, Hereditary↗
PubMed2002

[Nevus mimicking a basal cell carcinoma of the eyelid].

A clinicopathologic case of a 41-year-old female patient exhibited a single cutaneous tumor at the inner part of the free margin of the inferior left eyelid. It was a pink, fleshy, and nodular well-circumscribed exophytic mass with thin vessels on its surface. Experienced already for 20 years, this lesion had been observed 6 years before and has not exhibited much change since then. However, its clinical appearance argued for a possible small basal cell carcinoma, which had grown over the inferior left lachrymal duct. After surgical removal, histopathology showed that the tumor was an amelanotic dermal nevus. No disturbance of lachrymal drainage was observed after surgery. This case shows that nodular amelanotic tumors of the eyelid, even when located on the inner segment of the eyelid, may be a nevus.

Adult↗
PubMed2002

[Followup of chicken pox keratitis. Anatomic-clinical case report].

Chicken pox is a very common infectious disease in children. Its corneal involvement is less serious than with measles, which may lead to blindness in numerous developing countries. However, with occasional cases occur. A case of a 59-year-old male patient whose left cornea was involved during a chicken pox infection at the age of 7 is reported. More recently, the vision of the right eye was normal at 20/20 and reduced to visual perception in the affected left eye. Corneal sensitivity was maintained in the left eye, which, however exhibited a central epithelial defect. A central round opacity of the left corneal stroma was believed to be the scar resulting from a previous disciform keratitis. The left central cornea was thinned and there was neither an anterior chamber flare nor new corneal vessels. This corneal condition required a corneal allograft, performed quickly because of the potential risk of perforation. Histopathological study of the corneal button showed a central corneal thinning with an increase in epithelial thickness. The corneal stroma was disorganized, with irregular collagen bundles. No inflammatory cells could be observed, however. All the histopathological changes observed were those of a corneal scar.

Chickenpox↗
PubMed2002

[Bilateral keratoconus: a case report].

Among corneal dystrophies, the keratoconus is one of the most frequently observed among young adults. A clinico pathological case is reported in a 13-year-old-girl of African origin. The diagnosis of bilateral keratoconus was established based on the obvious changes of the corneal curvature and thickness. After an unsuccessful attempt to improve vision with contact lenses, a keratoplasty was finally performed on one side to remove the pathological cornea. Its histopathological study found the characteristic changes of keratoconus: breaks of Bowman's layer and corneal thinning.

Adolescent↗
PubMed2002

[Limbal stem cell deficiency associated with KID syndrome, about a case].

We report the case of a 30-year-old woman with KID (keratitis ichthyosis deafness) syndrome consulting for massive corneal neovascularization. She had already undergone two unsuccessful penetrating keratoplasties in her left eye. Visual acuity was limited to no more than light perception because of the opacity and neovascularization of the graft. In the light of this case of limbal cell deficiency, we discuss the ophthalmologic manifestations of KID syndrome as well as its clinical characteristics, physiopathology, and mode of transmission.

Adult↗
PubMed2001

Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene.

PURPOSE: To establish a phenotype-genotype correlation of various autosomal-dominant corneal dystrophies among French subjects. DESIGN: Retrospective molecular genetic study and clinicopathologic correlation. PARTICIPANTS: Forty-four subjects from 26 unrelated French families were included in this study, and 60 corneal buttons could be examined at the histologic and ultrastructural levels. METHODS: Light microscopy and transmission electron microscopy were performed on corneal specimens obtained during keratoplasty. Blood samples were collected for DNA analysis. MAIN OUTCOME MEASURES: After genomic DNA extraction from peripheral blood leukocytes of each family member, exons of the TGFBI gene were amplified by polymerase chain reaction (PCR), and the PCR products were directly sequenced on both strands. RESULTS: Four different mutations were found to be responsible for dystrophy of granular type (R555W, R124L, R124H, and R124L+delT125-delE126), three other different mutations produced a lattice type (R124C, H626R, and A546T), and the last mutation identified was associated with the honeycomb-shaped dystrophy (R555Q). Each subtype of dystrophy showed, histologically and ultrastructurally, specific characteristics that are easily recognizable. However, besides these stereotyped forms, differential histologic diagnosis of atypical forms remains difficult, and these forms could be misdiagnosed. CONCLUSIONS: The characteristic biomicroscopic appearance and histopathologic features of each "classic" dystrophy present a significant degree of specificity and generally provide an accurate diagnosis. However, atypical forms in which clinical and histologic data alone could be misleading, are unequivocally diagnosed after DNA analysis.

Cornea↗
PubMed2001

[Hyperkeratosis papilloma of the eyelid. An anatomic clinical case].

A clinicopathologic case of an 80-year-old male patient with a single cutaneous tumor on the upper part of the left eyelid is reported. It was a grayish and pigmented mass covered with a thick keratin layer, well circumscribed, and exophytic. After surgical removal, histopathology showed that the tumor had a papillomatous pattern and was growing under a thick layer of hyperkeratosis. It was a typical squamous cell papilloma. This tumor belongs to the benign eyelid tumor group and can be found on the eyelids of elderly people.

Aged↗
PubMed2001

[Limbal dermoid and Goldenhar syndrome. Report of an anatomoclinical study].

Dysembryoplastic neoplasm, the limbal dermoid is a benign congenital tumor involving the outer coat of the eye. This congenital tumor affected the right eye of a 6-year-old girl. The lesion was typically hemispheric, covered with pink skin, located in the inferior and temporal part of the cornea, and devoid of any major consequences except the cosmetic appearance of the eye. There were no other major abnormalities in the clinical examination but a single skin tag could be observed at the homolateral preauricular area without any visible cutaneous fistula next to it. This additional change allowed us to establish the diagnosis of a minor form of Goldenhar syndrome. This malformative syndrome typically includes several changes: dermoid and/or dermolipoma, preauricular tags and/or cutaneous fistulas in the same area, vertebral abnormalities etc. These findings may be limited to dermoid and cutaneous tags, as in our report. Such changes must be looked for in all limbal dermoids.

Child↗
PubMed2001

[Meibomian adenocarcinoma of the free palpebral edge. Report of a case].

A case of meibomian carcinoma of the left eyelid is reported in a 72-year-old female patient. The tumor had been present on the left eyelid for months. Clinically, the tumor appeared as a reddish mass implanted on the external part of the free margin of the left superior eyelid. An excisional biopsy disclosed meibomian carcinoma. A total resection of the left superior eyelid was followed by plastic surgery. Results after a one-month follow-up were very satisfactory. This case is emphasizes the importance of an early diagnosis which enabled us to perform a rather conservative treatment limited to the removal of the affected eyelid. The diagnosis of meibomian carcinoma is infrequent but it must be kept in mind in cases of tumor without the typical clinical characteristics of a basal cell or squamous cell carcinoma. Complete removal surgery may bring a curative effect and histopathology has a key role in the diagnosis of meibomian carcinoma.

Adenocarcinoma↗
PubMed2000

A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126.

OBJECTIVE: To characterize the molecular defect in the TGFBI gene in a French family affected with an atypical granular corneal dystrophy. PATIENTS: This family comprises 9 affected individuals across 3 generations without consanguineous marriage. METHODS: Light and electron microscopy were used to examine corneal buttons from patients. Exons of the TGFBI gene were amplified by polymerase chain reaction and sequenced directly using an automated method. Restriction digestion analysis and heteroduplex screening were performed to confirm that the mutations identified were not polymorphisms. RESULTS: Round or snow-flakes-like deposits that stained red with Masson trichrome and appeared as dense, rod-shaped structures were observed in the most anterior layers of the central stroma. All patients were heterozygous for the R124L mutation and a novel mutation predicting the deletion of 2 amino acid residues-threonine (T) and glutamic acid (E)-at codons 125 and 126. CONCLUSIONS: This French family is affected with a novel variant of granular dystrophy that is caused by a molecular defect in the TGFBI gene, reported here for the first time. CLINICAL RELEVANCE: These 2 mutations cause a novel variant of granular dystrophy that is intermediate in severity between the classical and superficial variant forms. Arch Ophthalmol. 2000;118:814-818

Adult↗
PubMed2000

Acyclovir-resistant bilateral keratitis associated with mutations in the HSV-1 thymidine kinase gene.

PURPOSE: To evaluate the contribution of molecular methods for the diagnosis of an acyclovir-resistant HSV-1 bilateral keratitis in an AIDS patient and to report a new point mutation in the nucleotide sequence of the thymidine kinase (tk) gene involved. METHODS: A 31 year old HIV-positive female presented with severe, active, bilateral and sight-threatening keratitis of 6 months duration, which was treated unsuccessfully with acyclovir. After corneal biopsy, samples were analysed by standard virological procedures, in situ hybridization, and PCR. The tk gene was cloned and subsequently sequenced. RESULTS: Conventional virological methods remained inconclusive. However, in situ hybridization and PCR rapidly confirmed the diagnosis of HSV-1 keratitis. The tk gene sequence revealed the presence of five variations previously described in two reference strains, but also a new point mutation at nucleotide position 431 which leads to an amino-acid change at position 144 that supported the hypothesis of a putatively altered functional form of the enzyme. Intravenous foscarnet treatment in an induction regimen was effective and cicatrization occurred within 3 weeks. CONCLUSIONS: PCR and in situ hybridization are effective and powerful techniques when other virological procedures are non-contributive, particularly in immunocompromised patients previously treated with antiviral drugs. The new point mutation identified in the tk gene may be associated with resistance to acyclovir.

AIDS-Related Opportunistic Infections↗
PubMed2000

A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA.

PURPOSE: To characterize the betaig-h3 gene defect in a French family affected with lattice corneal dystrophy type IIIA (LCDIIIA). METHODS: Histologic examination was performed from corneal buttons of two patients. Genomic DNA was extracted from leukocytes, and exons of the betaig-h3 gene were amplified by polymerase chain reaction to be directly sequenced. RESULTS: Numerous deposits were evident in the stroma and beneath the Bowman membrane, which had all the features of amyloid deposits. Analysis of exon 12 revealed a heterozygous G to A transition on codon 546. CONCLUSION: In contrast to Japanese patients, these French patients affected with LCDIIIA carry a distinct mutation of the betaig-h3 gene (A546T instead of P501T). Therefore, it is unclear whether different mutations could result in the same dystrophy or whether we are dealing with clinical heterogeneity of LCDIIIA.

Adult↗