Premium
Case Report: 49, XXXXY syndrome and high myopia
Author(s) -
Qureshi Farhan,
Thurairajan Geetha
Publication year - 2007
Publication title -
ophthalmic and physiological optics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.147
H-Index - 66
eISSN - 1475-1313
pISSN - 0275-5408
DOI - 10.1111/j.1475-1313.2007.00502.x
Subject(s) - hypertelorism , palpebral fissure , medicine , refractive error , incidence (geometry) , klinefelter syndrome , ophthalmology , pediatrics , optometry , eye disease , anatomy , optics , physics
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.