Frank Ter Haar syndrome (FTHS) is a rare autosomal recessive disorder with characteristic skeletal, cardiac, ocular, and craniofacial abnormalities. We report a sibling pair presenting with clinical features typical of FTHS, born to consanguineous parents, with a novel mutation in the SH3PXD2B gene on chromosome 5q35.1 that results in premature truncation of the protein encoded. The children presented with brachycephaly, multiple joint contractures, cardiac valvular defects, bilateral megalocornea, and congenital glaucoma. Trabeculotomy combined with trabeculectomy was performed in both siblings to control intraocular pressure. The characteristic clinical features with the underlying genetic defects confirmed the diagnosis of FTHS. Early diagnosis and treatment of congenital glaucoma preserved vision in the children.
Background A known case of Systemic Lupus Erythematosus (SLE) developed sudden loss of vision (no light perception) with relative afferent pupillary defect in her right eye (RE) and fundus examination revealed cherry red spot over tomato splash background with tortuous and dilated veins suggestive of combined central retinal arterial and vein occlusion. Analysis Left eye (LE) had 6/6 vision but posterior segment revealed a hyperemic disc. Fundus fluorescein angiography (FFA) revealed delayed arm to retina time and increased arterial to vein transit time in RE. LE showed pooling of dye around optic disc suggestive of SLE related Optic neuritis. Patient was re-evaluated and she tested positive for Lupus anticoagulant. Patient was diagnosed to have anti-phospholipid antibody syndrome (APS) occurring secondary to SLE. She was started on intra venous steroids, anti-coagulants and disease progression in left eye was controlled. Results We report a rare simultaneous presentation of complete combined occlusion of central retinal artery and vein (CCRAVO) in RE and Optic neuritis in LE which has not been reported in literature so far. Conclusion Ocular involvement may precede other systemic symptoms in SLE, so ophthalmologist should know about this rare simultaneous presentation. Ocular activity can correlate with systemic disease activity and starting early effective treatment can prevent other systemic lesion and can be life saving.
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