Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism,...

A series of 23 patients with thalamic hemorrhage with computed tomography confirmation is reported. Nine of these died, all had hematomas larger than 3.3 cm. The value of the syndrome of downward and convergent ocular deviation is stressed, and its possible mechanisms are analyzed. The characteristics and mechanisms of the pupillary abnormalities are reported, as well as the speech abnormalitie...

Eyes from cardiomyopathic hamsters (UM-X7.1 strain) were examined histologically for evidence of ocular defects. Changes observed included microphthalmia, scleral ectasia, scleral rupture, keratoconus, retinal detachment, retinal dysplasia, retinal fragmentation, retinal thinning, fibrosis of iris and ciliary body, ectopia lentis, and cataract formation. Lesions characteristic of cardiomyopathi...

*This report presented in 36th National Congress of Turk Ophthalmology Society in October 2002, Ankara, Turkey. This study presents a report on a 14-year-old male with Goldenhar syndrome featuring bilateral epibulbar mass, right hemifacial microsomia, deafness, and right scoliozis. Cardiac disorders including systolic murmur, sinusoidal arrhythmia, and prolapse of mitral valve were detected in ...

Uveal coloboma is a potentially blinding congenital ocular malformation caused by failure of the optic fissure to close during development. Although mutations in numerous genes have been described, these account for a minority of cases, complicating molecular diagnosis and genetic counseling. Here we describe a key role of aldh7a1 as a gene necessary for normal eye development. We show that mor...