Rana Al-Senawi

Orbital Infarction in Sickle Cell Disease

PURPOSE To determine the role of hematological and genetic factors in the development of orbital infarction in sickle cell disease. DESIGN Retrospective, noncomparative case series. METHODS Fourteen sickle cell disease patients were diagnosed with orbital infarction during a vaso-occlusive crisis. Clinical and radiological findings were reviewed retrospectively. Sickle cell disease patients without orbital infarction were recruited as controls after matching for disease severity. Sickle haplotypes were determined for all patients. Differences between groups were evaluated statistically. RESULTS Patients with orbital infarction in sickle cell disease presented with acute periorbital pain and swelling with or without proptosis, ophthalmoplegia, and visual impairment during a vaso-occlusive crisis. Radiological findings included orbital soft tissue swelling (100%), hematoma (orbital, 36%; intracranial, 21%), and abnormal bone marrow intensities. Severity of orbital involvement was unrelated to that of the systemic disease (Pearson correlation coefficient, -0.1567). Affected patients predominantly had the Benin haplotype (P < .00782). CONCLUSIONS Orbital infarction is a potential threat to vision in sickle cell disease patients. Magnetic resonance imaging is more specific than computed tomography or nuclear scintigraphy in the evaluation of orbital changes. The degree of severity of the orbital manifestations appears unrelated to the severity of sickle cell disease. Patients with the Benin haplotype are more likely to develop orbital infarction during vaso-occlusive crises.

Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children

Background: Septo-optic dysplasia (SOD), also known as de-Morsiers syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia (ONH), pituitary gland hypoplasia, and midline abnormalities of the brain including absence of septum pellucidum and corpus callosum dysgenesis. It is typically diagnosed in infancy and has a variable presentation that includes visual, neurologic, and/or hypothalamic-pituitary endocrine deficits. Purpose: To demonstrate the ophthalmic, endocrine, and neurologic spectrum of SOD in five Omani children and address the crucial role of high-resolution neuroimaging for its early and accurate diagnosis. Materials and Methods: A retrospective chart review was performed in 2010 of all children in the pediatric ophthalmology database of Sultan Qaboos University Hospital (SQUH) who were diagnosed to have ONH. All relevantdemographic, ophthalmic, neurologic, endocrine, and neuro-radiological manifestations were recorded in a data collection form. All previous neuroimaging results were reviewed by a neuro-radiologist. Results: Five patients (four males, one female) with the diagnosis of ONH were included in the study. They presented during the period 1998-2008. All patients were born at term, with normal birth weights to healthy mothers with insignificant antenatal history. Age at presentation ranged from three months to one year. Manifestations at presentation included severe visual impairment (5/5), neonatal hypoglycemia (3/5), seizure disorder (2/5), and failure to thrive (4/5). ONH was bilateral in 3/5 patients and unilateral in (2/5). Brain and orbit imaging revealed varying anomalies in all patients. These included absent septum pellucidum (3/5), severe corpus callosum agenesis (1/5), ectopic pituitary (5/5), falx cerebri deficiency (1/5), optic nerve hypoplasia (5/5), optic chiasmal hypoplasia (5/5), and olfactory tract hypoplasia (1/5). Endocrine deficits were detected in 4/5 patients (3 with panhypopituitarism, and 1 with growth hormone deficiency) and necessitated replacement therapy. Conclusion: SOD is a clinically heterogeneous disorder with a wide spectrum of ophthalmic, endocrine, and neurologic manifestations. All features might not be present in a single patient. A high consanguinity rate and lack of history of alcohol and drug use were observed in our cohort. Most affected children present first to the pediatrician with failure to thrive. Radiological confirmation of ONH necessitates high-resolution imaging and interpretation by an experienced neuro-radiologist. In our cohort, all patients with ONH had associated optic chiasmal hypoplasia. Early detection and treatment reduces disease-related morbidity, and can be life saving.

Congenital fibrosis of the extraocular muscles

Background: Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear (CN 4) nerves, and/or the muscles these nerves innervate. Aim: To describe the clinical and neuro-radiological findings in three patients with CFEOM and review literature with respect to clinical features, genetics and management of this condition. Materials and Methods: A retrospective chart review was performed of three Omani patients who had been diagnosed with CFEOM in our institution. All patients had undergone standardized orthoptic and ocular evaluations and magnetic resonance imaging (MRI) of the orbits and brain. Results: The three patients (age range nine months - 10 years) presented a history of congenital strabismus. All patients had severe bilateral ptosis and mild to moderate visual impairment secondary to the ptosis and astigmatism. Two of three patients demonstrated a positive jaw-winking phenomenon. A moderate to large angle exotropia with varying amount of hypotropia and limitations of almost all the extra ocular muscles was noted. Patient 3 was also developmentally delayed. MRI brain and orbit showed abnormalities of the extraocular muscles in two patients and brain malformation in one patient. Conclusions: CFEOM is a rare, congenital, and non-progressive disorder with multiple extra ocular muscle restrictions. CFEOM can be associated with neuro-radiological abnormalities; its diagnosis and classification is defined by clinical characteristics and genetics. Options for treatment are limited and difficult.

Cyanoacrylate-induced pseudo-tarsorrhaphy of the eye

Cyanoacrylate, also known as superglue, is a polymer which forms a strong bond at room temperature with a variety of materials including metal, glass, plastic, rubber, skin, mucous membranes and other epithelial tissues as well. We hereby present a 22-year-old female who had an accidental instillation of the glue in her eye, with an uneventful outcome.

Visual loss at presentation in children with pseudotumor cerebri

Purpose: To describe visual loss at presentation in children with pseudotumor cerebri (PTC), and discuss mechanisms of visual loss and distinguishing features of pediatric PTC. Materials and Methods: Two children with papilledema and visual complaints were referred for ophthalmic evaluation. Both patients underwent a detailed ophthalmic work-up. Results: Patient 1, an 8-year-old girl, presented with a 2-week history of headache, vomiting, and visual impairment in both eyes. The child had no previous medical history. Patient 2, a 9-year-old boy, experienced sudden loss of vision in both eyes one week prior to presentation, along with severe headache and vomiting. He had undergone a renal transplantation one year back, and his current medications included cyclosporine A (CsA) and oral prednisolone. Extensive disc swelling, lipid exudation and retinal thickening in the posterior pole were observed in both patients. Lumbar puncture in both showed elevated cerebrospinal fluid pressure. Both were treated with oral acetazolamide. Patient 1 additionally received intravenous methylprednisolone followed by an oral taper. CsA was stopped in patient 2. PTC and papilledema resolved with above measures in both patients, with partial recovery of visual function. Conclusions: PTC in children may have atypical manifestations. Visual acuity may be compromised acutely due to several factors. Patients with PTC and severe visual loss at presentation mandate an aggressive management approach. Use of intravenous steroids may be considered along with acetazolamide. Despite resolution of PTC, sequelae such as optic atrophy or macular scarring may impede eventual visual recovery. Physicians following patients on CsA need to be aware of the possible neuro-ophthalmic complications of the drug.