Augmented inferior rectus transposition with medial rectus recession in treatment of chronic unilateral sixth nerve palsy.

BACKGROUND: to report the results of augmented inferior rectus muscle transposition (IRT) in management of chronic sixth nerve palsy. METHODS: a retrospective review of medical records of patients with chronic complete sixth nerve palsy who were treated by augmented full thickness IRT to the lateral border of the paralyzed lateral rectus muscle. Patients were selected for IRT if there was more limitation of abduction in inferior gaze associated with V- pattern esotropia. Medial rectus recession (MRRc) was performed in case of positive intraoperative forced duction. Effect on primary position esotropia, face turn, amount of V-pattern and limitation of ocular ductions were reported and analyzed. RESULTS: the review revealed 11 patients (7 males) with chronic unilateral sixth nerve palsy who were treated by simultaneous augmented IRT and MRRc. Causes of sixth nerve palsy were trauma (6 cases), vascular (3 cases), inflammation and congenital (one case each). Mean age of the patients at the time of surgery was 35.6 years (range; 11-63) and mean follow up was 8.6 months (range; 6-13). Postoperatively, average correction of esotropia, V-pattern, face turn and limited abduction were 35.9 PD, 11.4 PD, 25.9° and 2.2 unit, respectively (p < .00). Postoperative complications in the form anterior segment ischemia, symptomatic induced vertical deviations were not found. CONCLUSIONS: In cases of chronic unilateral sixth nerve palsy associated with more limitation of abduction in downgaze and V-pattern esotropia, augmented IRT could be considered as an effective and safe modality.

LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.

Stickler syndrome is a collagenopathy that is typically inherited as autosomal dominant disease caused by monoallelic mutations in COL2A1, COL11A2, and COL11A1. Rarely, biallelic mutations in COL9A1, COL9A2, and COL9A3 cause an autosomal recessive Stickler syndrome. One previous report described two siblings with Stickler syndrome and a homozygous mutation in LOXL3, suggesting that biallelic mutations in LOXL3 can also cause autosomal recessive Stickler syndrome. LOXL3 is a member of the lysyl oxidase family of genes which encode enzymes oxidizing the side chain of peptidyl lysine permitting the covalent crosslinking of collagen and elastin chains. Therefore, LOXL3 deficiency is expected to result in collagen defect. Furthermore, Loxl3 deficient mouse model demonstrated features overlapping with Stickler syndrome. In this report, we describe a child and his father who had clinical features consistent with Stickler syndrome and found to have a homozygous novel mutation c.1036C>T (p.Arg346Trp) in LOXL3. This report not only supports that biallelic LOXL3 mutations cause autosomal recessive Stickler syndrome, but also further delineates the phenotype associated with LOXL3 mutations. In addition, the family described here shows an interesting example for pseudodominance, which can be observed in recessive diseases when one parent is affected and the other is heterozygous carrier.