Neurofibrome palpébral chez une femme jeune [Eyelid neurofibroma affecting a young woman].

A 43-year-old female patient had an amelanotic single tumor thickening the upper right eyelid and observed since early childhood. Clinically, it appeared as a firm mass, without sharp margins, giving a thickened appearance to the superior eyelid. The ophthalmic clinical examination was normal but some subcutaneous nodules attested to the diffusion of the disease recognized as a limited form of neurofibromatosis 1. Although well tolerated, it gave rise to a cosmetic disturbance and the patient was willing to undergo an excision. A complete surgical excision was performed on the lesions and the pathological study disclosed a typical neurofibroma. Regular observation of the different cutaneous nodules was recommended.

Inflammation d'une pinguécula ectopique [Inflammation of an ectopic pinguecula].

An 80-year-old male patient experienced recently diagnosed swelling of the limbal conjunctiva. In his clinical history were found cataract surgery on the right eye 3 months before, chronic open angle glaucoma effectively treated by local eye drops, treated systemic hypertension and hypercholesterolemia. On ophthalmic examination, a conjunctival mass was present in the inferior lateral conjunctival quadrant next to the limbus, with numerous vessels visible at its top. Treatment with topical corticosteroids failed to obtain regression, but decreased the local inflammatory signs. The persistence of the mass led to its surgical excision under local anesthesia. Histopathology found a subepithelial accumulation of modified collagen bundles typical of elastotic degeneration. Capillary vessels were seen in the superficial subepithelial area, attesting to the high degree of vascularization observed clinically. The final diagnosis was a pinguecula, which was not exactly located on the horizontal meridian area as it is usual.

Adénome pléomorphe simulant une dacryoadénite [Pleomorphic adenoma mimicking dacryoadenitis].

A 56-year-old female patient displayed an increased volume of her left lacrimal gland with pain and inflammation. On CT scan, a hyperdense lacrimal mass was found in the left lacrimal fossa. Observation was the first course, for no steroid therapy could be applied because of evolving digestive ulcers. After 9 months of observation, the gland was surgically removed en bloc through a wide anterolateral approach. Pathological analysis of the gland showed a pleomorphic adenoma. This case illustrates the advantage of a wide surgical approach in treating lacrimal gland tumors, in order to avoid or limit the risk of recurrence.

Etude de Nkx5-3, un facteur de transcription impliqué dans le développement de l'oeil

Résumé :Une famille souffrant d'un nouveau syndrome oculo-auriculaire, appelé syndrome de Schorderet-Munier, a été identifiée. Ce syndrome est caractérisé par une déformation du lobe de l'oreille et des anomalies ophtalmiques, notamment une microphtalmie, une cataracte, un colobome et une dégénérescence rétinienne. Le gène impliqué dans ce syndrome est NKX5-3 codant un facteur de transcription contenant un homéodomaine. Chez les patient atteints, le gène comporte une délétion de 26 nucléotides provoquant probablement l'apparition d'un codon stop précoce. Ce gène n'est exprimé que dans certains organes dont les testicules et les ganglions cervicaux supérieurs, ainsi que dans les organes touchés par ce syndrome, à savoir le pavillon de l'oreille et l'oeil, surtout lors du développement embryonnaire. Au niveau de la rétine, NKX5-3 est présent dans la couche nucléaire interne et dans la couche dè cellules ganglionnaires et est exprimé de manière polarisée selon un axe temporal > nasal et ventral > dorsal. Son expression in vitro est régulée par Spl, un facteur de transcription exprimé durant le développement de l'oeil chez la souris. NKX5-3 semble lui-même provoquer une inhibition de l'expression de SHH et de EPHA6. Ces gènes sont tous les deux impliqués à leur manière dans le guidage des axones des cellules ganglionnaires de la rétine. Pris ensemble, ces résultats nous permettent donc d'émettre une hypothèse quant à un rôle potentiel de NKX5-3 dans ce processus.Abstract :A family with a new oculo-auricular syndrome, called syndrome of Schorderet-Munier, was identified. This disease is characterised by a deformation of the ear lobule and by several ophthalmic abnormalities, like microphthalmia, cataract, coloboma and a retinal degeneration. The gene, which causes this syndrome, is NKX5-3 coding for a transcription factor contaning a homeodomain. In the affectd patients, the defect consists of a deletion of 26 nucleotides probably producing a premature stop codon. This gene is only expressed in a few organs like testis and superior cervical ganglions, as well as in organs affected by this syndrome, namely the ear pinna and the eye, mainly during embryonic development. In the retina, NKX5-3 is present in the inner nuclear layer and in the ganglion cells layer. It is expressed along a gradient ranging from the temporal retina to nasal retina and from the ventral to the dorsal part. Its in vitro expression is regulated by Spl, a transcription factor expressed during the murine eye development. NKX5-3 seems to inhibit the expression of SHH and EPHA6. These genes are both implicated, in their own way, in the axon guidance of the retinal ganglion cells. Taken together, these results allow us to make an assumption about a potential role of NKX5-3 in this process.

Résultats anatomiques comparés à long terme de décollements de rétine avec prolifération vitréo-rétinienne opérés avec ou sans utilisation de perfluorocarbones liquides [Long-term comparative anatomic results of retinal detachment with vitreoretinal proliferation operated with or without using liquid perfluorocarbons].

PURPOSE: To investigate whether peroperative perfluorocarbon liquids (PFCL) improve the long term anatomical success of retinal detachment associated with severe proliferative vitreoretinopathy (PVR). PATIENTS AND METHODS: The charts of 62 successive patients operated on for retinal detachment associated with severe PVR were retrospectively analyzed. For one group of 39 patients PFCL were used intraoperatively to improve membrane dissection. The anatomical status of the two groups were compared one month after surgery and at least 6 months after silicone oil ablation. RESULTS: Anatomical success was observed in 84.6% in the group of patients operated with PFCL compared to 52% in the other group (P = 0.005). At the end of the follow up, anatomical success was observed in 64% of patients operated with PFCL compared to 61% in the control group (P = 0.8). However, recurrences were observed later in the group operated on with PFCL. CONCLUSION: Perfluorocarbons liquids significantly improve the initial reattachment of retinal detachment complicated with severe PVR, but they do not seem to improve their final anatomical status.