Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene deletion syndrome on chromosome 15q26.3. Genome-wide SNP-genotyping revealed a homozygous region in all affected individuals, including the same microdeletion that partially affects two coding genes (ADAMTS17, CERS3) and abolishes a sequence for a long non-coding RNA (FLJ42289). Whereas mutations in ADAMTS17 have recently been identified in autosomal recessive Weill-Marchesani-like syndrome in humans and dogs presenting with ophthalmologic, cardiac, and skeletal abnormalities, no disease associations have been described for CERS3 (ceramide synthase 3) and FLJ42289 so far. However, analysis of additional patients with non-syndromic ARCI revealed a splice site mutation in CERS3 indicating that a defect in ceramide synthesis is causative for the present skin phenotype of our patients. Functional analysis of patient skin and in vitro differentiated keratinocytes demonstrated that mutations in CERS3 lead to a disturbed sphingolipid profile with reduced levels of epidermis-specific very long-chain ceramides that interferes with epidermal differentiation. Taken together, these data present a novel pathway involved in ARCI development and, moreover, provide the first evidence that CERS3 plays an essential role in human sphingolipid metabolism for the maintenance of epidermal lipid homeostasis.

[Ocular manifestations of pseudoxanthoma elasticum]. / Atteinte oculaire au cours du pseudoxanthome élastique.

BACKGROUND: Pseudoxanthoma elasticum (PXE) is a hereditary disease characterized by skin, ocular, and cardiovascular lesions. Its prognosis depends mainly on the ocular and vascular lesions. METHODS: This study included 11 patients with PXE. All patients had an ophthalmologic examination. RESULTS: All patients had ocular lesions. Seven (63%) had angioid streaks and two, macular lesions. One patient had bilateral intrapapillary drusen (of the optic nerve head). CONCLUSION: Ocular lesions in PXE had substantial diagnostic value. Ocular complications affect functional prognosis. These patients must undergo routine ophthalmologic examinations to look for ocular manifestations and their complications.

[Retrobulbar anesthesia during keratolplasty]. / Anesthesie locoregionale dans la keratoplastie.

AIM: A restrospective study was carried in order to evaluate the efficacy and safety of retrobulbar anaesthesia during keratoplasty. METHODS: Of 250 consecutive keratoplasty, 30 (12%) were performed under retrobulbar anaesthesia. Patients received a mean volume of 12 ml, composed of etidocaine (2/3), bupicaine (1/3) and hyaluronidase. Ocular compression duration was at least 20 minutes. RESULTS: Surgery was found painless by 90% of patients. Akinesia was complete in 80% of cases. CONCLUSION: Theses results demonstrate that retrobulbar anaesthesia may be recommended to this type of surgery.

[Peribulbar anaesthesia for strabismus surgery]. / Anesthesie locale pour la chirurgie de strabisme.

BACKGROUND: Strabismus surgery is underwent with general anaesthesia since it's a paediatric surgery in the majority of cases. The aim of our study is to analyse the safety and tolerance of peribulbar anaesthesia for strabismus surgery. PATIENTS AND METHODS: sixty two patients underwent strabismus surgery with a peribulbar anaesthesia. All patients had premedication the evening before and two hours bef6re the surgery. All patients were examined to evaluate the efficacy and the safety of such anaesthesia. RESULTS: The main age was 31,5 years. Forty patients were female and twenty two were male. None had report pain. Three patients report just incomfort during surgery. Orthoptic results were acceptable. CONCLUSION: Peribulbar anaesthesia has shown to be an effective alternative for general anaesthesia for strabismus surgery in an attempt to reduce the morbidity and mortality. It take importance particularly in patients of high-risk characteristics and in monocular surgery.

[Watering of the eyes in infants: how to treat it?]. / Larmoiement du nourrisson: que faire?

The congenital impermeability of see lacrymal is frequent affection of new born. Whimpering is the master symptom. We propose a retrospective study with 492 cases of congenital imperforations treated in our ophthalmology department in Sfax, between 1990 and 2000. We showed the clinical characteristics of our study and therapeutic result. For these children, various therapeutic methods were used: the washing of the lacrymal ways with or without pressure. A survey is undertaken on first, second and third time if necessary; in the event of failure we do lacrymal pathway intubation or the dacryocystorhinostomy at a more advanced age. The naso-lacrymal repermeability is obtained in 92.9% (457 cases), spontaneous repermeabilisation in 112 cases; 84 cases by washing and 293 cases by single or multiple survey. This study is encouraging collaboration between pediatrics and ophthalmologists to consult early when whimpering is noted.