Antero-Medialisation of the Tibial Tubercle for Patellar Instability

We reviewed 19 patients (24 knees) with patellofemoral instability treated surgically with antero-medialisation of the tibial tubercle and lateral retinacular release. Twenty-two knees had recurrent patellar dislocation and two patellar subluxation. Lateral retinacular release was performed arthroscopically in 15 knees. Average follow-up was 52 (16-86) months. There was one postoperative haemarthrosis and one failed fixation, which needed surgical revision. The average Lysholm score improved from 63.3 to 98 and only one knee had persistent patello-femoral pain postoperatively. The patellar tilt angle improved from 9.4 degrees to 5.5 degrees . There were no redislocations. We find that the surgical technique produces a consistent correction of patellar instability, but long-term studies are needed to confirm whether it can prevent arthritic degeneration.

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-Related Phenotypes

Leber Congenital Amaurosis (LCA), the most severe inherited retinal dystrophy, is genetically heterogeneous, with 14 genes accounting for 70% of patients. Here, 91 LCA probands underwent LCA chip analysis and subsequent sequencing of 6 genes (CEP290, CRB1, RPE65, GUCY2D, AIPL1and CRX), revealing mutations in 69% of the cohort, with major involvement of CEP290 (30%). In addition, 11 patients with early-onset retinal dystrophy (EORD) and 13 patients with Senior-Loken syndrome (SLS), LCA-Joubert syndrome (LCA-JS) or cerebello-oculo-renal syndrome (CORS) were included. Exhaustive re-inspection of the overall phenotypes in our LCA cohort revealed novel insights mainly regarding the CEP290-related phenotype. The AHI1 gene was screened as a candidate modifier gene in three patients with the same CEP290 genotype but different neurological involvement. Interestingly, a heterozygous novel AHI1 mutation, p.Asn811Lys, was found in the most severely affected patient. Moreover, AHI1 screening in five other patients with CEP290-related disease and neurological involvement revealed a second novel missense variant, p.His758Pro, in one LCA patient with mild mental retardation and autism. These two AHI1 mutations might thus represent neurological modifiers of CEP290-related disease.