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


METHODS
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.
D'Amelio
Savino
S
Department of Pediatric Ophthalmology, Ophthalmic Hospital C. Sperino, Turin, Italy.
Lassen
Natalie
N
Vasiliou
Vasilis
V
Bateman
J Bronwyn
JB
D000015:Abnormalities, Multiple; D002648:Child; D003397:Craniopharyngioma / Q000235:genetics / Q000473:pathology*; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology*; D004370:Duane Retraction Syndrome / Q000235:genetics / Q000473:pathology; D019773:Epiretinal Membrane / Q000235:genetics / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics / Q000473:pathology*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000473:pathology*; D006801:Humans; D054082:Lissencephaly / Q000235:genetics / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D009759:Nystagmus, Pathologic / Q000235:genetics / Q000473:pathology; D010911:Pituitary Neoplasms / Q000235:genetics / Q000473:pathology*; D012164:Retinal Diseases / Q000235:genetics / Q000473:pathology; D055213:Retinal Pigment Epithelium / Q000473:pathology