A rare simultaneous presentation of combined occlusion and optic neuritis in a lupus erythematosus patient with anti-phospholipid antibody syndrome.

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.

Surgical Outcomes of Early Versus Late Onset Glaucoma Associated With Sturge-Weber Syndrome.

PRCIS: Long-term intraocular pressure control can be difficult to achieve in eyes with Sturge-Weber syndrome glaucoma. The most commonly performed primary surgery was trabeculotomyin early onset disease and tube shunt implantation in late onset disease. PURPOSE: To compare long-term surgical outcomes of glaucoma associated with Sturge-Weber syndrome (SWS) in eyes with early and late-onset disease. METHODS: Medical records of children with glaucoma associated with SWS who underwent surgical treatment between January 1990 and December 2018 were reviewed. Those diagnosed ≤2 years of age were categorized as early onset while those who were diagnosed >2 years of age were late onset. Failure was defined as intraocular pressure (IOP) >21 mm Hg or reduced <20% below baseline on 2 consecutive follow-up visits after 3 months, IOP ≤5 mm Hg on 2 consecutive follow-up visits, reoperation for glaucoma or a complication, or loss of light perception. RESULTS: Forty-three eyes of 36 children were studied, including 26 eyes in the early-onset group and 17 eyes in the late-onset group. The early-onset group more frequently presented with buphthalmos, corneal edema, and Haab striae, while late-onset group had higher baseline IOP, larger cup-to-disc ratio, and longer axial length. The most commonly performed primary surgery was trabeculotomy (50%) in early-onset group and tube shunt implantation (71%) in late-onset group. The cumulative probability of failure after 5 years follow-up was 50.6% in early-onset group and 50.9% in the late-onset group ( P =0.56). Postoperative complications occurred in 3 eyes (12%) in early-onset group and 11 eyes (65%) in late-onset group ( P <0.001). CONCLUSIONS: Early and late-onset SWS glaucoma may represent 2 entities with different pathogenetic mechanisms, clinical presentations, primary surgical choices, and outcomes, though this needs corroboration in future studies.

A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital Glaucoma.

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.