PURPOSE.Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A. This study was conducted to determine the incidence of KIF21A and PHOX2A mutations among individuals with the third CFEOM phenotype, CFEOM3. METHODS. All pedigrees and sporadic individuals with CFEOM3 in the authors' database were identified, whether the pedigrees were linked or consistent with linkage to the FEOM1, FEOM2, and/or FEOM3 loci was determined, and the appropriate pedigrees and the sporadic individuals were screened for mutations in KIF21A and PHOX2A. RESULTS. Twelve CFEOM3 pedigrees and 10 CFEOM3 sporadic individuals were identified in the database. The structures of eight of the pedigrees permitted the generation of meaningful linkage data. KIF21A was screened in 17 probands, and mutations were identified in two CFEOM3 pedigrees. One pedigree harbored a novel mutation (2841G3 A, M947I) and one harbored the most common and recurrent of the CFEOM1 mutations identified previously (2860C3 T, R954W). None of CFEOM3 pedigrees or sporadic individuals harbored mutations in PHOX2A.CONCLUSIONS. The results demonstrate that KIF21A mutations are a rare cause of CFEOM3 and that KIF21A mutations can be nonpenetrant. Although KIF21A is the first gene to be associated with CFEOM3, the results imply that mutations in the unidentified FEOM3 gene are the more common cause of this phenotype. (Invest Ophthalmol Vis Sci.

The treatment of fully refractive accommodative esotropia with excimer laser was found effective and safe, even in young or adolescent patients. More studies are needed to increase the patient experience and extend the follow-up period in order to evaluate the stability of these results over time.

Botulinum toxin therapy for blepharospasm can provide long-lasting relief and reduction of spasms in the majority of patients. This therapy has the advantages of being safe, simple, and repeatable.

The treatment of medium to high unilateral myopia with PRK under local anesthesia was found effective and safe in pediatric and adolescent patients. This procedure may improve ocular alignment and stereopsis. Further studies are needed to increase the patient experience and extend follow-up time in order to assess the long-term stability of the RESULTS.

We report a case of bilateral Brown’s syndrome in a 4-year-old girl. Forced duction testing confirmed the clinical diagnosis. After 7 months we observed a spontaneous resolution in the right eye. The problem in her left eye did not show any significant change over 36 months of follow-up. Various spontaneous resolutions in bilateral cases are reviewed.