Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma.

Abstract

PURPOSE:

To report the association of Duane syndrome with nystagmus and a patterned hyperpigmentation of the retinal pigment epithelium, developmental delay, micro- and pachygyria and craniopharyngioma.

CASE REPORT:

We describe a 12-year old girl with developmental delay, hearing loss, cortical micro- and pachygyria, and a cystic craniopharyngioma; her ocular features include unilateral Duane syndrome, monocular nystagmus under binocular conditions, and a patterned hyperpigmentation of the retinal pigment epithelium. Her mother had similar retinal pigment epithelial abnormalities.

CONCLUSIONS:

The combination of two neuronal migrational disorders, the unusual retinal pigment epithelial abnormalities in the proband and her mother, and evidence that each feature may be genetic and are suggestive of a genetic basis for this constellation of features.

• Authors: Savino D'Amelio, Natalie Lassen, Vasilis Vasiliou, J Bronwyn Bateman
• Journal: Ophthalmic genetics (Ophthalmic Genet) Vol. 30 Issue 1 Pg. 7-12 (Mar 2009) ISSN: 1744-5094 [Electronic] England
• PMID: 19172504 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple
• Child
• Craniopharyngioma (genetics, pathology)
• Developmental Disabilities (genetics, pathology)
• Duane Retraction Syndrome (genetics, pathology)
• Epiretinal Membrane (genetics, pathology)
• Eye Abnormalities (genetics, pathology)
• Female
• Hearing Loss, Sensorineural (genetics, pathology)
• Humans
• Lissencephaly (genetics, pathology)
• Magnetic Resonance Imaging
• Nystagmus, Pathologic (genetics, pathology)
• Pituitary Neoplasms (genetics, pathology)
• Retinal Diseases (genetics, pathology)
• Retinal Pigment Epithelium (pathology)