Sana Al-Zuhaibi

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.

Macular cysts in retinal dystrophy

Purpose of review To describe the entity of macular cysts in retinal dystrophy, differentiate it from cystoid macular edema (CME), and review the role of carbonic anhydrase inhibitors in management. Recent findings Macular cysts in retinal dystrophy are seen in retinopathies caused by mutations in the NR2E3 gene, juvenile X-linked retinoschisis (XLRS), and some other retinal dystrophies. These must be distinguished from CME. Optical coherence tomography can clearly demonstrate intraretinal cysts which may not be clinically detectable. Intravenous fluorescein angiography (IVFA) does not show macular hyperfluorescence (i.e. leakage). Molecular genetic testing aids in the diagnosis and elucidation of pathophysiology. Carbonic anhydrase inhibitors may promote resolution of the cysts resulting in visual improvement. Summary Non-CME macular cysts in retinal dystrophies can be differentiated from CME by a combination of clinical examination, IVFA, and molecular genetic testing to identify causative phenotype. Carbonic anhydrase inhibitors may be effective in promoting resolution.

Compliance of amblyopic patients with occlusion therapy: A pilot study.

Background: Increasing evidence shows that good compliance with occlusion therapy is paramount for successful amblyopia therapy. Purpose: To study the degree of compliance and explore factors affecting compliance in patients undergoing occlusion therapy for amblyopia in our practice. Design: Nonrandomized clinical intervention study. Materials and Methods: A total of 31 families with a child (aged 2-12 years), undergoing unilateral amblyopia treatment at the pediatric ophthalmology clinic of Sultan Qaboos University Hospital, Oman, were recruited for this one month study. Parents were interviewed and completed a closed-ended questionnaire. Clinical data including, visual acuity, refraction, diagnosis and treatment, for each patient was collected from the hospital chart and was entered in a data collection sheet. Compliance with occlusion therapy was assessed by self-report accounts of parents and was graded into good, partial, or poor. Association between various factors and degree of compliance was studied using logistic regression modeling. Results: Only 14 (45%) patients showed good compliance to occlusion therapy. 17 (55%) patients were noncompliant. Improvement in visual acuity strongly correlated with compliance to patching (P = 0.008). Other variables that were studied included, age at onset of therapy; gender; degree of amblyopia; type of amblyopia; use of glasses; and compliance with glasses. These did not emerge as significant predictors of compliance. All but one family with poor compliance stated that the main challenge in following the recommendation to patch for requisite hours was in getting their child to cooperate. Only in one instance, the family cited nonavailability of patches as the main hindrance to compliance. 10/31 (32%) families expressed a desire for more information and 18/31 (58%) parents did not understand that amblyopia meant decreased vision. Conclusion: Poor compliance is a barrier to successful amblyopia therapy in our practice. Improvement in visual acuity is associated with better compliance with patching. Parents find it difficult to comprehend and retain verbal explanations of various components regarding occlusion therapy for amblyopia. Future study with a larger sample of patients is recommended to investigate the factors affecting compliance with amblyopia therapy and determine predictors for poor compliance.

Lymphocytic infundibulo-neurohypophysitis: An unusual cause of recurrent optic neuropathy in a child

Lymphocytic infundibulo-neurohypophysitis (LINH), a rare autoimmune disease, is distinct from lymphocytic hypophysitis and is characterized by lymphocytic and plasma cell infiltration of the posterior lobe of the pituitary and the pituitary stalk.(1) We report the case of a young boy who presented with recurrent, steroid-responsive optic nerve dysfunction and diabetes insipidus. T1-weighted magnetic resonance imaging scans of the brain showed an isointense soft tissue mass within the sella turcica and a thickened pituitary stalk. Tissue specimen resected at transsphenoidal surgery revealed chronic inflammation with infiltration of lymphocytes and no granulomatosis or necrosis, establishing the diagnosis of LINH.(2) This is the first report of optic neuropathy in association with LINH in a child.

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

EPT1 encodes an enzyme involved in the Kennedy pathway of phospholipid biosynthesis, important for cell membrane integrity. Ahmed et al. identify an EPT1 mutation that impairs enzyme activity and causes complex motor neuron degenerative disease. This is the first human disorder shown to arise through Kennedy pathway dysfunction.

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.

Visual rehabilitation by scleral fixation of posterior chamber intraocular lenses in Omani children with aphakia

BACKGROUND AND OBJECTIVE To report indications and outcomes of scleral-fixated posterior chamber intraocular lenses (PC IOLs) in Omani children with aphakia. PATIENTS AND METHODS Patients with aphakia who were younger than 16 years, unsuitable for spectacle or contact lens correction, and without capsular support underwent an anterior vitrectomy and 10-0 polypropylene inside-out scleral fixation ofa PC IOL. RESULTS Scleral-fixated PC IOLs were implanted in 28 eyes of 24 patients. Group A comprised 10 (36%) eyes with congenital cataract and 3 (11%) eyes with ectopia lentis and group B comprised 15 (53%) eyes with traumatic cataract. The mean age at implantation was higher in group A (10.5 years) than in group B (7.3 years). Visual acuity improved in 17 of 28 (61%) eyes and remained at the preoperative levels in 11 of 28 (39%) eyes. Mean postoperative refraction was within +/- 2.0 diopters of the predicted refraction in 19 of 28 (68%) eyes. Complications included temporary intraocular pressure increase, vitreous hemorrhage, and iris capture with lens malposition. CONCLUSION Scleral-fixated PC IOLs are beneficial for children with aphakia without posterior capsular support who are lacking other means for visual rehabilitation. Patients with traumatic cataract and lens dislocation are more likely to experience an improvement in visual acuity postoperatively than patients with congenital cataract. However, this procedure is technically more difficult than routine PC IOL implantation and potentially carries greater risks.

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.

Visual rehabilitation by scleral fixation of posterior chamber intraocular lenses in amblyopic aphakic children

Background/Aims: To report on the outcome of scleral fixated posterior chamber intraocular lens (S-IOL) implantation in aphakic amblyopic children after 1 year. Methods: Amblyopic children with aphakia after traumatic and congenital cataract surgery unsuitable for spectacle or contact lens correction were operated with an anterior vitrectomy and inside-out double thread scleral fixation of an Alcon CZ70BD pcIOL. Refraction and vision was compared after 12 months. Results: From 2001-2006, 23 S-IOLs were implanted in 16 children (19 unilateral, 4 bilateral) aged 2-16 years: 10 eyes with traumatic [Group A], and 13 eyes with congenital cataracts including 3 eyes with ectopia lentis [Group B]. Preoperative UCVA compared to postoperative UCVA improved in 9/10 eyes in group A and 12/13 eyes in group B. Preoperative BCVA compared to postoperative UCVA improved in 9/10 eyes (90 percent) in group A and 4/13 eyes (31 percent) in group B. Mean age at surgery in group A was 6.8 years (1.5-16yrs) and in group B 10.5 years (4-16 years). More than one year elapsed in 2/10 eyes of group A and 8/13 eyes in group B. Postoperative refraction was within 2.0D of target in 17/23 eyes. Complications included temporary IOP rise in 2, vitreous hemorrhage in 1, and iris capture in 3 eyes. Two eyes required revision surgery. Conclusion: S-IOL implantation may be beneficial for aphakic children lacking other means for visual rehabilitation to improve vision. Amblyopia may be improved in most trauma, but only few congenital cataract eyes.