Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome.

To characterize a novel and distinct hereditary clinical syndrome of microcornea, myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears. Retrospective series of patients referred to a pediatric ophthalmologist (2005-2010) and recognized to have microcornea (horizontal corneal diameter <=10.5 mm as measured by the IOLmaster [Carl Zeiss, Oberkochen, Germany]) and myopic chorioretinal atrophy. Five boys (4-10 years old) from four consanguineous and/or endogamous Saudi Arabian families were identified. Best-corrected visual acuity in the three children older than four years and was 20/60 or better; the two four-year-olds showed central, steady, and maintained fixation in either eye. Horizontal corneal diameters ranged from 9.8 to 10.5 mm but anterior chambers were not shallow (2.66-3.01 mm). In the three unrelated probands, myopic chorioretinal atrophy was severe and associated with a cycloplegic spherical equivalent at least -6.00 diopters (-6.00 to -13.75) and an axial length of at least 25.63 mm (25.63-26.84). In the two affected children who were siblings, myopic chorioretinal findings were milder and associated with less myopia (-0.50 to -2.50 diopters) and shorter axial lengths (22.42-23.69 mm). All five affected children had telecanthus and posteriorly-rotated ears, which were not present in unaffected relatives. In one family, the child's father was also affected (with both ocular and facial features). The recurrence of these ocular and facial features in four different inbred families suggests that taken together they represent a distinct clinical syndrome caused by recessive mutations in a gene involved in ocular and facial development.

Citation

Arif O Khan. Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome. Ophthalmic genetics. 2012 Dec;33(4):196-9

Mesh Tags

PMID: 22686506

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