Ocular manifestations in Wolf-Hirschhorn syndrome

J AAPOS. 2009 Jun;13(3):264-7. doi: 10.1016/j.jaapos.2009.02.011.


Introduction: Wolf-Hirschhorn syndrome (WHS) multiple congenital anomalies/mental retardation is caused by partial deletion of the short arm of chromosome 4 and can be considered a contiguous gene syndrome, characterized by typical facial appearance, mental retardation, growth delay, and seizures.

Methods: We investigated the ocular defects in a population of 10 patients with WHS and analyzed the relationship between ocular findings and the extent of deletion on chromosome 4.

Results: The ocular abnormalities found included hypertelorism, strabismus, refractive errors, epicanthal folds, proptosis, downslanting palpebral fissures, microphthalmos, microcornea, iris coloboma, optic nerve coloboma, ocular cyst, ptosis, glaucoma, and nystagmus. Different breakpoints of the chromosomal rearrangement were observed in individual patients, ranging from 4p15.1 to 4p16.3, and the size of chromosomal deletion ranged from 2.6 to 26 million base pairs.

Conclusions: Congenital glaucoma and colobomatous ocular cysts have rarely been described in WHS patients that were previously reported. In all cases exhibiting strabismus, an exodeviation was present. Comparing genotype with ocular phenotype, a relationship between the size of deletion and the severity of the ocular involvement was observed in all cases but one.

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 4
  • Coloboma / genetics
  • Coloboma / pathology
  • Exophthalmos / genetics
  • Exophthalmos / pathology
  • Eye Diseases / genetics*
  • Eye Diseases / pathology*
  • Female
  • Genotype
  • Glaucoma / genetics
  • Glaucoma / pathology
  • Humans
  • Hypertelorism / genetics
  • Hypertelorism / pathology
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology
  • Male
  • Phenotype
  • Refractive Errors / genetics
  • Refractive Errors / pathology
  • Severity of Illness Index
  • Strabismus / genetics
  • Strabismus / pathology
  • Wolf-Hirschhorn Syndrome / genetics*
  • Wolf-Hirschhorn Syndrome / pathology*