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Case report: 49, XXXXY syndrome and high myopia.
Ophthalmic Physiol Opt 2007; 27(5):500-1OP

Abstract

49, XXXXY karyotype syndrome has been thought of as a variant of Klinefelter's syndrome. It has an incidence of between 1/85 000 to 1/100 000 live births. Typical clinical features include coarse faces, skeletal abnormalities, hypogenitalism and severe learning difficulties. Common ocular features include hypertelorism, epicanthic folds and up-slanting palpebral apertures. Here we report a case of high myopia and its successful correction leading to a positive personality change in one such patient. We advocate full ophthalmic examination, under anaesthesia if necessary, and a trial of refractive correction, even in children thought unlikely to tolerate such.

Authors+Show Affiliations

Department of Ophthalmology, Worcester Royal Infirmary, Charles Hastings Way, Worcester, UK. farhanqureshi101@hotmail.comNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17718889

Citation

Qureshi, Farhan, and Geetha Thurairajan. "Case Report: 49, XXXXY Syndrome and High Myopia." Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (Optometrists), vol. 27, no. 5, 2007, pp. 500-1.
Qureshi F, Thurairajan G. Case report: 49, XXXXY syndrome and high myopia. Ophthalmic Physiol Opt. 2007;27(5):500-1.
Qureshi, F., & Thurairajan, G. (2007). Case report: 49, XXXXY syndrome and high myopia. Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (Optometrists), 27(5), pp. 500-1.
Qureshi F, Thurairajan G. Case Report: 49, XXXXY Syndrome and High Myopia. Ophthalmic Physiol Opt. 2007;27(5):500-1. PubMed PMID: 17718889.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Case report: 49, XXXXY syndrome and high myopia. AU - Qureshi,Farhan, AU - Thurairajan,Geetha, PY - 2007/8/28/pubmed PY - 2008/3/15/medline PY - 2007/8/28/entrez SP - 500 EP - 1 JF - Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) JO - Ophthalmic Physiol Opt VL - 27 IS - 5 N2 - 49, XXXXY karyotype syndrome has been thought of as a variant of Klinefelter's syndrome. It has an incidence of between 1/85 000 to 1/100 000 live births. Typical clinical features include coarse faces, skeletal abnormalities, hypogenitalism and severe learning difficulties. Common ocular features include hypertelorism, epicanthic folds and up-slanting palpebral apertures. Here we report a case of high myopia and its successful correction leading to a positive personality change in one such patient. We advocate full ophthalmic examination, under anaesthesia if necessary, and a trial of refractive correction, even in children thought unlikely to tolerate such. SN - 0275-5408 UR - https://www.unboundmedicine.com/medline/citation/17718889/Case_report:_49_XXXXY_syndrome_and_high_myopia_ L2 - https://doi.org/10.1111/j.1475-1313.2007.00502.x DB - PRIME DP - Unbound Medicine ER -