New ocular associations in Sanjad-Sakati syndrome: case report from Oman

Sanjad-Sakati syndrome [SSS; Online Mendelian Inheritance in Man [OMIM] #241410], also known as hypoparathyroidism-retardation-dysmorphism [HRD] syndrome, is an autosomal recessive disorder in which prenatal-onset extreme growth retardation, congenital hypoparathyroidism and craniofacial dysmorphism result from mutations in the tubulin-specific chaperone E [TBCE] gene on chromosome 1q42-43. We report unique ophthalmic findings in a two-year-old child with molecularly confirmed SSS, who was admitted to Sultan Qaboos University Hospital in Oman at 11 weeks old with bilateral congenital corneal clouding. The ophthalmic findings in this patient were linked to faulty microtubule assembly in the brain, abnormal intracellular membrane transport and the resulting metabolic derangement seen in patients with SSS

Confoscan: an ideal therapeutic aid and screening tool in acanthamoeba keratitis

Although present worldwide, Acanthamoeba keratitis [AK] is a rare condition. It is a protozoal infection of the eye that is generally caused by wearing contaminated contact lenses or lens solutions. Confoscan and confocal scanning laser tomography [CSLT] are in vivo noninvasive diagnostic tools which provide high definition images of corneal microstructures. Laser in situ keratomileusis [LASIK] is a very common refractive surgery. We report a case series in which the first patient had contact lens induced Acanthamoeba keratitis with corneal epitheliopathy that was unresponsive to conservative treatment. Epithelial debridement was performed based on confoscan findings which confirmed the presence of Acanthamoeba cysts. Subsequently, the cornea re-epithelialized over two days. Another patient had CSLT prior to the LASIK which showed stromal cyst-like structures suggestive of Acanthamoeba keratitis. Four months after medical therapy, repeat CSLT was negative for Acanthamoeba cysts. Third patient was diagnosed with Acanthamoeba infection after undergoing lamellar keratoplasty. CSLT should be used as a screening procedure prior to any corneal refractive surgery to detect and treat protozoal and other infections preoperatively

Bevacizumab therapy for macular edema in central retinal vein occlusion: long-term results

There is no proven effective treatment for vision loss in central retinal vein occlusion [CRVO]. Bevacizumab has been reported in small series with limited follow-up, to have a positive effect in reducing cystoid macular edema [CME] and improving vision in CRVO. To report long-term results with the use of bevacizumab in CRVO. Prospective interventional case series included 15 patients, serially evaluated with best corrected visual acuity [BCVA], optical coherence tomography [OCT], fluorescein angiography, and tonometry. Results were statistically analyzed. Mean follow-up was 12 +/- 3.6 months [range, 6?18 months]; mean number of injections was 2.2 [range, 1?4] per patient. Statistically significant reduction of macular thickness [P < 0.001] was seen at six weeks [mean, 346 micro]; three months [mean, 353 micro]; six months [mean, 348 micro]; and final follow-up [mean, 342 micro]. Significant BCVA improvement was seen at six weeks [mean, 0.27 logMAR], three months [mean, 0.3 logMAR], three months [0.15 logMAR], and final follow-up [mean, 0.21 logMAR] [P = 0.009]. Also, 73.3% patients had BCVA improvement at the last follow-up. Intravitreal bevacizumab is an effective treatment option for CME in CRVO patients. Reinjections at appropriate timing, based on the OCT findings, are important for better visual outcome

Photodynamic therapy with verteporfin for chronic central serous choroidoretinopathy and idiopathic choroidal neovascularization- first report from the Sultanate of Oman

Central Serous Chorioretinopathy [CSCR] is characterized by accumulation of subretinal fluid, resulting in neurosensory retinal detachment. Interventional study. Five patients [CSCR-3; Idiopathic-2] with Choroidal Neovascularization [CNV] were selected for the study. All patients had Standardized refraction, color photographs, fluorescein angiography [FA], and Photodynamic Therapy [PDT] using verteporfin. Optical Coherence Tomography [OCT] was done wherever applicable. The main outcome measures were improvement or stability in Best Corrected Visual Acuity [BCVA] and FA identified closure of lesions. Followup period for the CSCR group ranged from 8 to 11 months and for the idiopathic group 12 to 23 months. BCVA improved in 67% eyes in the CSCR group [three eyes]. Amongst the idiopathic group [two eyes], one eye gained BCVA by two lines while the other lost one Snellen line from baseline VA. FA identified CNV lesions closed in 67% eyes in the CSCR group and all eyes in the idiopathic CNV group. Photodynamic therapy with Verteporfin can be an ideal mode of therapy in chronic CSCR with or without CNV, and idiopathic CNV in terms of improved or stabilized VA, and closure of the CNV lesions. A study involving a larger number of patients as a multicenter trial would add to the authenticity of our observation