Manifestations Ophtalmologiques Au Cours Du Syndrome D\'apert : A Propos D\'un Cas

Introduction : Parmi les crâniosténoses, le syndrome d\'Apert demande la collaboration de plusieurs spécialistes, pour sauver ce qui peut l\'être de la fonction visuelle des patients et permettre un développement cérébral le plus proche de la normale. Observation : Nous présentons le cas d\'une jeune suivie et traitée depuis son jeune âge pour un syndrome d\'Apert. Elle a subi plusieurs interventions successives pour garder à un âge assez avancé une fonction visuelle appréciable à 3/10.Les modifications anatomiques ont inéluctablement influé sur l\'état visuel de la patiente avec une myopie forte,un astigmatisme relativement important et une atrophie papillaire partielle. Discussion : D\'origine génétique, le syndrome d\'Apert est dû à une mutation allélique du récepteur 2 d\'un facteur fibroblastique. Les signes de souffrance cérébrale sont inévitables, et l\'atrophie optique relative représente la séquelle fonctionnelle principale. Conclusion : Une prise en charge de longue haleine est nécessaire dans le syndrome d\'Apert pour espérer sauver une fonction visuelle utile.Introduction : Several craniosynostotic syndromes are described such as Apert syndrome in which collaboration between different specialists is necessary to preserve visual function and to allow normal cerebral development. Case-report : It\'s a case note of a girl with Apert syndrome. She underwent since her infancy several surgical operations. Anatomic modifications affected her visual status with a best visual acuity of 3/1O, high myopia, astigmatism and partial optic atrophy. Discussion : Apert syndrome is a genetic disorder due to a mutation in fibroblast receptor growth factor genes. Optic atrophy attributed to optic neuropathy represents the major functional sequella and the major cause of visual loss. Conclusion : Apert syndrome, like all craniosynostotic syndromes, requires a correct management in order to preserve the visual function. Keywords: craniosynostosis, Apert syndrome, decompression surgery, optic atrophy. Journal Tunisien d\'ORL et de chirurgie cervico-faciale Vol. 18 2007: pp. 46-4

Phenotype of two Consanguineous Autosomic Recessive Retinitis Pigmentosa Families Caused by PDE6A and PDE6B Mutations

Purpose: To assess the clinical phenotype in two consanguineous Tunisian families with non syndromic autosomic recessive retinitis Pigmentosa (RP) caused by a PDE6A and PDE6B mutations.Methods: All accessible familiy members were included. Affected members from each family underwent full ophthalmic examination with best corrected Snellen visual acuity, fundus photography, optical coherence tomography and full field electroretinography. Haplotype analyses were used to test linkage in the family to 20 arRP loci, including ABCA4, LRAT, USH2A, RP29, CERKL, CNGA1, CNGB1, CRB1, EYS, RP28, MERTK, NR2E3, PDE6A, PDE6B, RGR, RHO, RLBP1, TULP1. All exons and intron-exon junctions of candidate genes not excluded by haplotype analysis were PCR amplified and directly sequenced.Results: Two family members were clinically affected with arRP in each pedigree. Age range at baseline was 43 to 54 years (mean age at baseline was 48 years). For all affected members, night blindness appeared since early childhood (at 4-5 years old) without nystagmus but with a severe progression and mild to severe loss of central vision at the second decade. Visual acuity at baseline ranged from 20/500 to 20/63. Kinetic visual field was severely constricted for one patient and unrealizable for the others. Funduscopic examination revealed bone spicule-shaped pigment deposits in the mid periphery along with atrophy of the retina, narrowing of the vessels and waxy optic discs. Tomograms showed macular atrophy in both cases of family A, and macular edema in the patients of family B. ERG showed a loss of both rod and cone responses. Haplotype analysis revealed homozygosity for microsatellites markers flanking PDE6A and PDE6B in family A and B, respectively. Sequencing of PDE6A in family A showed a homozygous R102S mutation. In family B, sequencing identified a D600N homozygous mutation. Both mutations cosegregated within each respective pedigree.Conclusions: For these families, affected members developed a severe form of non syndromic arRP. The two reported mutations have already been described. Our data further contribute to our understanding of genotype-phenotype correlations