Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2.

ABSTRACT:

Introduction

Congenital fibrosis of the extraocular muscles type 2 (CFEOM2) is a distinct non-syndromic form of congenital incomitant strabismus secondary to orbital dysinnervation from recessive mutations in the gene PHOX2A. The phenotype includes bilateral ptosis, very large angle exotropia, ophthalmoplegia, and poorly-reactive pupils. Other than amblyopia, afferent visual dysfunction has not been considered part of CFEOM2; however, we have repeatedly observed non-amblyopic subnormal vision in affected patients. The purpose of this study was to document this recurrent feature of the phenotype.

Methods

A retrospective case series (2002-2012).

Results

Eighteen patients (four families) were identified; all affected individuals had confirmed homozygous recessive PHOX2A

SUBMITTER: Khan AO 

PROVIDER: S-EPMC4270951 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature