A novel case of bilateral high myopia, cataract, and total retinal detachment associated with interstitial 11q deletion.
OBJECTIVE
Jacobsen syndrome, also known as 11q deletion syndrome, is a rare condition characterized by multiple anomalies, including developmental delay, cardiac abnormalities, blood dyscrasias, distal limb abnormalities, craniofacial anomalies, and variable ophthalmic manifestations. The syndrome's phenotype is due to a terminal deletion and is usually severely debilitating, frequently associated with fatality. Interstitial deletions, not involving the terminal end, have been associated with a more variable and less severe phenotype.


METHODS
Herein, we describe a case of interstitial 11q deletion in a 16 year-old female with associated systemic and craniofacial abnormalities as well as a novel combination of ocular findings, specifically strabismus, high myopia, bilateral cataracts, and bilateral total retinal detachments.


RESULTS
This case report highlights the necessity for a detailed ophthalmic examination of patients with both interstitial and terminal deletions of the long arm of chromosome 11.
Sachdeva
Reecha
R
Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.
Sears
Jonathan E
JE
Rychwalski
Paul J
PJ
D000293:Adolescent; D002386:Cataract / Q000235:genetics*; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D007839:Functional Laterality; D006801:Humans; D009216:Myopia / Q000235:genetics*; D010641:Phenotype; D012163:Retinal Detachment / Q000235:genetics*; D013285:Strabismus / Q000235:genetics