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Biomedical subjects

B Arnaud

Publications and source records attributed to B Arnaud.

At least 109 records · Page 6Linked to original sources
PubMedDate not supplied

Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.

Retinal dystrophies are a complex set of hereditary diseases of the retina that result in the degeneration of photoreceptors. Recent studies have shown that mutations in RPE65, a gene that codes for a retinal pigment epithelium (RPE)-specific protein thought to be involved in the 11-cis-retinoid metabolism, a key process in vision, cause severe, early onset retinal dystrophy. We describe two novel missense RPE65 mutations, L22P and H68Y, in a compound heterozygote with autosomal recessive retinal dystrophy. The relatively mild phenotype associated with these mutations suggests a possible link between the severity of the disease and the type of mutations in the RPE65 gene.

Amino Acid Sequence↗
PubMedDate not supplied

A comparison of topical mequitazine and disodium cromoglycate in allergic conjunctivitis induced by a specific conjunctival provocation test.

PURPOSE: Twenty-two people with a history of grass pollen allergic conjunctivitis were enrolled outside the pollen season in this study to compare the efficacy of 0.05% mequitazine eyedrops with topical 2% disodium cromoglycate. METHODS: This randomized, double-blind study compared right and left eyes. Subjects received 2% disodium cromoglycate eyedrops in one eye and mequitazine vehicle in the fellow eye 4 times daily for 4 days. For the last instillation, mequitazine vehicle was replaced by one drop of 0.05% mequitazine and 15 min later a conjunctival provocation test (CPT) with grass pollen was performed. RESULTS: The sum of the scores for hyperemia and itching, and total composite score were lower after 0.05% mequitazine than after 2% disodium cromoglycate (p < 0.0001 in each case). The allergen threshold dose which elicited a positive allergic response was higher in the mequitazine group (p < 0.001). Both treatments showed good tolerance upon instillation. No adverse events related to study treatment occurred. CONCLUSIONS: These results demonstrate the superior efficacy of a single drop of 0.05% mequitazine 15 min before CPT compared with 2% disodium cromoglycate 4 times daily for 4 days.

Administration, Topical↗
PubMedDate not supplied

Keratectasia induced by laser in situ keratomileusis in keratoconus.

PURPOSE: Corneal thinning disorders weaken the mechanical strength of affected corneas, suggesting that photorefractive procedures may be contraindicated in keratoconus. Few cases have been reported to confirm this hypothesis. METHODS: A 45-year-old man had two laser in situ keratomileusis (LASIK) procedures and one photorefractive keratectomy (PRK) performed on his left eye, and three LASIK procedures on his right eye. After these surgeries, a dramatic corneal ectasia and grade III haze occurred in both eyes, with a clinical diagnosis of keratoconus. The changes in his corneas were followed with videokeratography and slit-lamp microscopy. RESULTS: Preoperative videokeratograph of both eyes suggested keratoconus. After multiple refractive procedures, the best spectacle-corrected visual acuity was as low as 20/1200 bilaterally. Both eyes displayed dramatic corneal protrusion with corneal scarring. CONCLUSIONS: This case emphasizes the need for preoperative corneal thickness measurement and detailed analysis of videokeratographs. Thinning corneal disorders such as keratoconus, keratoconus suspects, or pellucid marginal degeneration are a contraindication for excimer laser ablative refractive procedures.

Cornea↗
PubMedDate not supplied

[Chorioretinopathy of the Birdshot type. Apropos of a case].

Authors relate a case of Birdshot retinochoroidopathy and describe the complete clinic study of this pathology pointing out the pathognomomic signs which permit the diagnosis and the strong association with the Antigen HLA A 29.

Chorioretinitis↗
PubMedDate not supplied

[Palpebral Merkel cell tumors apropos of 3 cases].

The Merkel-cell tumor is a recently individualized (1972) malignant skin tumor. The diagnosis is made on the pathology. It consists of an intra-dermal proliferation of small regular cells with large nucleus and reduced cytoplasm. The evidence of neurosecretory granules and paranuclear intermediate filaments by electron microscopy is suggestive of a Merkel-cell tumor. Following a review of the literature and 3 personal observations the authors have detailed the clinical, anatomopathologic and evolutional characteristics of palpebral localizations.

Aged↗
PubMedDate not supplied

[Oculomotor nerve paralysis secondary to dural carotido-cavernous sinus fistula].

Carotid-cavernous sinus fistulas are an uncommon cause of oculomotor nerve palsies. These fistulas are fed by meningeal branches of the internal carotid and/or external carotid arteries. They occur spontaneously, and have symptoms less severe than those of direct carotid-cavernous sinus fistulas. The authors report 5 observations of oculomotor nerve palsy consecutive to these fistulas; diagnostic, physiopathogenic and therapeutic problems are discussed.

Aged↗