84 INTRODUCTION Jacobsen syndrome, also known as 11q deletion syn- drome, is a rare condition characterized by multiple anomalies. These anomalies include developmental delay, cardiac abnormalities, blood dyscrasias, dis- tal limb abnormalities and craniofacial anomalies including trigonocephaly, depressed nasal bridge and micrognathia. 1–8 Jacobsen first described a contigu- ous gene deletion disorder caused by a translocation between chromosomes 11 and 21. 4 While the original description involved the (11;21) translocation, more recent data has attributed the syndrome’s pheno- type to deletion of the terminal end of the long arm of chromosome 11. 9–12 Involvement of 11q24.1 is the critical deletion required for the Jacobsen syndrome phenotype. 9–12 The fragile point at which many dele- tions take place has been identified at 11q23.3. 13,14 When this terminal end is involved, the resultant phenotype is severely debilitating and associated with fatality in the first 2 years of life in 25% of affected individuals, usually secondary to cardiac anomalies. 8,15 Other interstitial deletions of 11q aris- ing between 11q14 and 11q23 have additionally been reported. Interstitial deletions, not involving 11q24.1, have been associated with a more variable and less severe phenotype. 15–17 Lee reported a series of 10 new cases of Jacobsen syndrome and reviewed 63 previously reported cases to further describe the ophthalmic manifesta- tions of this syndrome. They found that strabismus and refractive error were quite widespread among patients. Facial dysmorphism was additionally com- monly observed, specifically ptosis, hypertelorism, epicanthal folds, and up-slanting or down-slanting palpebral fissures. 1–4,7,15,18–20 Specifically, hypertelorism has been observed in deletions involving the 11q24.1 critical region, and ptosis has been associated with involvement of 11q23. 7,8,12 The ptosis can be variable, Ophthalmic Genetics, 31(2), 84–88, 2010 Copyright © 2010 Informa Healthcare USA, Inc. ISSN: 1381-6810 print/ 1744-5094 online DOI: 10.3109/13816811003628833 CASE REPORT A Novel Case of Bilateral High Myopia, Cataract, and Total Retinal Detachment Associated with Interstitial 11q Deletion Reecha Sachdeva, Jonathan E. Sears, and Paul J. Rychwalski Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA ABSTRACT Purpose: 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 associ- ated 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. KEYWORDS: Interstitial 11q deletion; Jacobsen Syndrome; Chromosome 11; Retinal detachment; Cataract; High myopia Received 21 October 2009; revised 10 January 2010; accepted 16 January 2010 Correspondence: Paul Rychwalski, MD, Cole Eye Institute, Cleveland Clinic, 9500 Euclid Ave, i32, Cleveland, OH 44195. E-mail: rychwap@ccf.org