Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome.

ABSTRACT:

Purpose

To describe phenotyping and linkage analysis results for available members from a consanguineous nuclear family with hereditary congenital strabismus.

Methods

Both parents and all 12 children underwent clinical examination. Available affected and several unaffected family members had venous blood sampling for DNA extraction and 10K single nucleotide polymorphism (SNP) genotyping (Affymetrix Gene Chip® Human). Multipoint logarithm of the odds (LOD) score calculations were performed assuming an autosomal recessive mode of inheritance with 100% penetrance and disease allele frequency of 0.01%.

Results

Three children had non-syndromic large-angle infantile esotropia without significant hyperopia. A fourth child had left esotropic Duane retraction syndrome. A fifth

SUBMITTER: Khan AO 

PROVIDER: S-EPMC3154136 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature