Purpose: To characterize a novel and distinct hereditary clinical syndrome of microcornea, myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears.
Methods: 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.
Results: 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).
Conclusions: 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.