Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association.

BACKGROUND: Sanjad Sakati syndrome (SSS) is a rare autosomal recessive genetic disorder caused by mutation in TBCE (tubulin folding cofactor E) gene. Reported cases were almost exclusively of Middle-Eastern and Arabian children of consanguineous parents. We report the clinical manifestations, outcome, and an observed new association of sleep-disordered breathing (SDB) among children with Sanjad Sakati syndrome. METHODS: Clinical and routine laboratory data of SSS cases attending Sultan Qaboos University Hospital, Oman, were collected from the electronic patient records or through direct clinic interviews. In-lab polysomnography (PSG) and echocardiography were carried out for all the cases. SDB diagnosis was based on the guidelines of the American Academy of Sleep Medicine. RESULTS: Of 12 patients with SSS, 5 males (42%), all of them (100%) had obstructive sleep apnea (OSA) and 4 of them (33%) had additional significant central apnea and sleep-related hypoventilation. Eight patients (67%) had severe SDB with mean apnea-hypopnea index (AHI) of 26.5 events/h. Age at time of diagnosis with SDB ranged from 2 to 17 years with mean of 8.9 [Formula: see text] Two patients had severe pulmonary hypertension as a complication of severe SDB and died from type 2 respiratory failure. CONCLUSIONS: Sleep-disordered breathing is prevalent among children with SSS, especially OSA. This is the first study to report SDB in a large cohort of patients with this extremely rare syndrome. The study results encourage the importance of screening affected patients with SSS for sleep-disordered breathing early before developing severe morbidities such as pulmonary hypertension that further compromise their quality of life.

Pupillary block glaucoma due to anterior migration of nonemulsified silicone oil in a phakic patient: A case report and review of literature.

This report describes a case of acute pupillary block glaucoma related to migration of nonemulsified silicone oil into the anterior chamber (AC) in a young phakic patient. A 24-year-old male diabetic patient underwent uneventful left eye pars plana vitrectomy (PPV) with silicon oil endotamponade for diabetic macula-off tractional retinal detachment. Two weeks after discharge, he presented with severe left eye pain. Examination revealed hand motion vision, high intraocular pressure (IOP) of 67 mmHg with ciliary injection, corneal edema, and two large nonemulsified silicone oil bubbles in the AC at the pupillary margin. Medical management with topical antiglaucoma medications (AGMs) and intravenous acetazolamide and mannitol failed to reduce the IOP. The patient underwent left eye PPV, silicone oil removal, and AC wash. IOP was eventually controlled after the operation without AGM. Pupillary block glaucoma after silicone oil injection is well recognized in aphakic patients, but ophthalmologists should be aware that it can occur in phakic and pseudophakic patients, particularly in complicated cases and patients with a weakness of the iris-lens diaphragm.

A case report on letrozole-related maculopathy.

Letrozole is an oral aromatase inhibitor used in the treatment of hormone receptor-positive breast cancers in postmenopausal women. It acts by inhibiting the conversion of androgens to estrogen thereby lowering the estrogen synthesis in the body. We report a case of bilateral cystoid macular edema (CME) in a postmenopausal woman on letrozole for breast cancer. A 62-year-old female presented with painless gradually progressive bilateral diminution of vision for the past 6 months. Her previous ocular history is unremarkable. Her medical history is known for carcinoma of the breast for which she underwent chemotherapy followed by mastectomy, adjuvant hormonal therapy, and radiotherapy. The patient had been on letrozole for the past 4½ years. At presentation, the best corrected visual acuity in the right eye was 0.4 and 0.5 in the left eye. Fundus examination revealed significant bilateral CME. Optical coherence tomography and fundus fluorescein angiography confirmed the diagnosis. After discussing the possibility of letrozole-related maculopathy with the treating oncologist, letrozole was discontinued and the patient was reassessed. Reduction of macular edema and mild visual improvement was observed when letrozole was subsequently stopped. Although ocular side effects are rare with letrozole, a comprehensive ophthalmic evaluation is recommended for patients who present with visual disturbances for prompt intervention.

Acute postoperative infectious endophthalmitis caused by Gram-negative organisms.

Endophthalmitis is a rare but potentially sight-threatening ophthalmic condition characterized by marked inflammation of intraocular tissues and fluids. Bacteria is the most common cause of postoperative acute infectious endophthalmitis of which Gram-positive (GP) bacteria is the predominant isolate which constituted 47% of all positive vitreous cultures in endophthalmitis vitrectomy study. On the other hand, Gram-negative bacteria constituted 11.5% with poor visual outcomes compared to GP cases due to the fulminant and destructive nature of such pathogens despite prompt and appropriate treatment initiation. In this report, we would like to share the three cases of acute postoperative infectious endophthalmitis caused by Gram-negative organisms and highlight the challenges that might be faced when dealing with such presentations.

Spontaneously resolved severe retinopathy associated with aplastic anemia.

Aplastic anemia is a rare, usually autoimmune disorder of bone marrow stem cells leading to pancytopenia and hypoplastic marrow that presents with anemia, infection or bleeding which can be potentially sight and life-threatening. Patients with aplastic anemia may present with various ocular manifestations; lid and orbital hematoma, sub-conjunctival hemorrhage, sudden visual loss due to vitreous hemorrhage or retinopathy and optic disc edema. A young male patient had symptomatic sever bilateral hemorrhagic retinopathy secondary to aplastic anemia; succeeding systemic allogenic hematopoietic stem-cell transplantation showed almost complete spontaneous resolution of the retinopathy and significant improvement in vision over a period of 16 weeks.

Complications associated with the use of two types of silicone oil in vitreoretinal surgeries: A single tertiary center experience in Oman.

OBJECTIVES: The objective of this study is to describe complications associated with the use of two types of silicone oil (SO) (1000 centistokes [cs] and 5000 cs) in vitreoretinal surgery in Oman. MATERIALS AND METHODS: This is a retrospective descriptive study on all patients who underwent vitreoretinal surgeries in which SO injection or removal was done. The study was conducted at Sultan Qaboos University Hospital between January 1, 2010, and December 31, 2017. Demographic data, lens status of the eye at the time of SO injection, type of SO used (1000 cs or 5000 cs), and complications associated with SO were collected. RESULTS: A total of 107 eyes of 103 patients were included in the study. SO 1000 cs was used in 66 eyes and SO 5000 cs was used in 41 eyes. A total of 29 eyes (27%) developed SO-related complications, which included SO emulsification in 14 eyes (13.1%), raised intraocular pressure (IOP) >21 mmHg in 19 eyes (17.8%), and band keratopathy in 4 eyes (3.7%). SO emulsification was seen in eight eyes (12.1%) in whom SO 1000 cs was used and in five eyes (12.2%) in whom SO 5000 cs (P = 1.000). CONCLUSION: SO was found to be a relatively safe adjunct in vitreoretinal surgery. SO-related complications such as SO emulsification, raised IOP, and band keratopathy were observed in less than one-third of study eyes. No difference was noted in emulsification rate between SO 1000 cs and SO 5000 cs. Further studies with larger sample size and longer follow-up period are warranted.

Central Retinal Vein Occlusion in a Young Healthy COVID-19 Patient: A Case Report and Literature Review.

Coronavirus disease (COVID-19) has been declared by the World Health Organization as a pandemic on March 11, 2020. COVID-19 predispose patients to multisystem thromboembolic events, including pulmonary emboli and deep vein thrombosis. We report a 33-year-old previously healthy man, with previous history of COVID-19 infection presented with left eye central retinal vein occlusion (CRVO) with secondary macular edema. All possible risk factors for thromboembolic events were excluded. After a single dose of intravitreal injection of aflibercept (2 mg in 0.05 ml), gradual improvement in the clinical manifestation of CRVO with complete resolution of macular edema in the left eye was observed. To the best of our knowledge, this is the first report of CRVO post-COVID-19 in Oman.

Unusual case of endophthalmitis: Case report and literature review.

Endophthalmitis is an inflammation of both the anterior and posterior chamber. It is diagnosed clinically and involvement of retina and choroid has been documented. (1) Endophthalmitis is classified into infectious and no-infectious categories. Furthermore, the infectious categoery is classified into endogenous and exogenous (Postoperative, Posttraumatic, Bleb associated) which can be caused by either bacterial or fungal infection. Blurry of vision and pain are main symptoms and coagulase negative organisms (gram positive) are main causative of exogenous endophthalmitis. (2) We report a rare case of delayed-onset postoperative endophthalmitis secondary to a rare causative pathogen.

Endophthalmitis in Oman: A descriptive retrospective multi-center study.

PURPOSE: The aim of this study is to report the anatomical and functional outcome, microbiology profile and treatment used for endophthalmitis in Oman. DESIGN: The study design involves retrospective descriptive multicenter study. METHODS: Demographic and clinical data of patients diagnosed with endophthalmitis over a period of 9 years were collected in three tertiary hospitals in Oman. RESULTS: A total of 50 endophthalmitis cases were included in the study. Exogenous endophthalmitis was diagnosed in 48 cases, whereas 2 cases were endogenous endophthalmitis. Culture-positive cases constituted 16 cases (32%) out of these, 12 cases were Gram-positive, 3 cases were Gram-negative and one case had a positive fungal culture. Immediate first-line treatment was vitreous tap and inject in 33 eyes and vitrectomy in 13 eyes. In 45 eyes in which the visual acuity (VA) was recorded; VA after treatment improved in 22 eyes (49%), remained the same in 16 eyes (36%) and worsened in 7 eyes (16%). CONCLUSION: Although endophthalmitis is rare, it is a devastating ocular emergency. Early diagnosis and prompt intervention are crucial in management. Awareness among the patients undergoing intraocular surgeries about this rare condition is very crucial. Moreover, frontline health-care providers must be aware and critical if they encounter patients with suspicion of endophthalmitis as early recognition, prompt referral, and timely treatment are the key for better visual prognosis. Finally, establishing a National Endophthalmitis Registry is recommended as it will help analyze the incidence, treatment instituted and the outcome of this condition across Oman.

Normal electro-oculography in a young Omani male with genetically confirmed best disease complicated by choroidal neovascularization.

Best vitelliform macular dystrophy (VMD) is an autosomal dominant macular dystrophy caused by heterozygous mutations in the bestrophin1 gene. Patients with this condition typically have an abnormal electrooculogram. We report a case of a 16-year-old male who presented with gradual progressive vision loss in the right eye. Ophthalmic assessment included funduscopy, optical coherence tomography (OCT), fluorescein angiography, electro-oculography, electroretinography, and genetic testing. Visual acuity was 20/500 and 20/20 in the right and left eyes, respectively. Ophthalmoscopy revealed round yellow lesions in both foveae similar to what is typically seen in Best disease. A subretinal hemorrhage surrounding the right foveal lesion was also noted. OCT demonstrated an elevated neurosensory retina with a subretinal lesion in the right macula. Fluorescein angiography of the right eye confirmed the presence of choroidal neovascularization. Genetic analysis of VMD2/BEST1 sequences confirmed the diagnosis of Best disease. However, contrary to what was expected, the patient's electro-oculography was normal. The findings of this case support a small number of previous reports demonstrating cases of Best disease with normal electro-oculography. While an abnormal electro-oculography along with the typical features of Best disease confirms the diagnosis, a normal result may not exclude the diagnosis. Genetic testing is probably the most important test for establishing the diagnosis of Best disease.

Outcome of rhegmatogenous retinal detachment repair: Experience of a tertiary center in Oman.

AIM: To study the outcome of repair of rhegmatogenous retinal detachment (RRD) in a tertiary center. MATERIALS AND METHODS: Review of electronic medical records within a period of 29 months of consecutive patients who underwent surgical repair for RRD in Sultan Qaboos University Hospital (SQUH). RESULTS: We included 33 consecutive patients (36 eyes). Males constituted 70% of them. The average age was 47 years. Seven eyes out of the 36 had macula-on RRD at presentation. The primary success rate with a single procedure was 86%. However, redetachment occurred in five eyes (14%). Visual acuity was either same as preoperative or better in 81% of the eyes. Giant retinal tear was found in three eyes (8%). The average follow-up period for all patients was 10.25 months (range: 3-25 months). CONCLUSION: Rhegmatogenous RD is not uncommon disorder. It occurs more frequently in males. However, it has a good prognosis if an intervention was performed in early stages.

Bilateral Ocular Ischaemic Syndrome-Rare Complication of Rhinocerebral Mucormycosis in an Omani Patient: Case report and literature review.

Ocular ischaemic syndrome (OIS) is a relatively uncommon condition. Simultaneous bilateral involvement is even less common and has been reported in only 22% of all cases of OIS. It has variable clinical presentations, of which visual loss and ocular pain are the most common. It is believed to occur when there is a 90% or greater carotid artery obstruction. This syndrome is often associated with a number of systemic diseases including diabetes mellitus, hypertension, coronary artery disease, and cerebrovascular disease. Only occasionally has it been described as a complication of rhinocerebral mucormycosis. We report an unusual case of bilateral OIS secondary to bilateral internal carotid artery thrombosis as a complication of invasive rhinocerebral mucormycosis. In addition, a review of clinical presentation, diagnostic work-up and treatment options for OIS is provided.

Restoration of vision after surgical removal of an intraocular needlefish jaw.

PURPOSE: To describe the case of a globe-penetrating intraocular needlefish injury. METHODS: Clinicopathologic case report. RESULTS: A 38-year-old man had a globe-penetrating injury while swimming without eye protection in the Caribbean Sea. The foreign body was impaled in the nasal retina. After surgical removal, retinal repair, and subsequent cataract surgery, the best-corrected visual acuity was 20/20 in the affected eye. Histopathologic examination of the foreign body was consistent with a needlefish jaw. CONCLUSION: This is the first reported case of a successful visual outcome after the surgical removal of an intraocular needlefish jaw. Furthermore, we advise that ophthalmologists should be recommending eye protection to people swimming in waters endemic to this dangerous fish.