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

Mutations in genes involved in lipid metabolism have increasingly been associated with various subtypes of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative motor neuron disorders characterized by spastic paraparesis. Here, we report an unusual autosomal recessive neurodegenerative condition, best classified as a complicated form of hereditary spastic paraplegia, associated with mutation in the ethanolaminephosphotransferase 1 (EPT1) gene (now known as SELENOI), responsible for the final step in Kennedy pathway forming phosphatidylethanolamine from CDP-ethanolamine. Phosphatidylethanolamine is a glycerophospholipid that, together with phosphatidylcholine, constitutes more than half of the total phospholipids in eukaryotic cell membranes. We determined that the mutation defined dramatically reduces the enzymatic activity of EPT1, thereby hindering the final step in phosphatidylethanolamine synthesis. Additionally, due to central nervous system inaccessibility we undertook quantification of phosphatidylethanolamine levels and species in patient and control blood samples as an indication of liver phosphatidylethanolamine biosynthesis. Although this revealed alteration to levels of specific phosphatidylethanolamine fatty acyl species in patients, overall phosphatidylethanolamine levels were broadly unaffected indicating that in blood EPT1 inactivity may be compensated for, in part, via alternate biochemical pathways. These studies define the first human disorder arising due to defective CDP-ethanolamine biosynthesis and provide new insight into the role of Kennedy pathway components in human neurological function

Autogenous Dermis-Fat Orbital Impant for Anophthalmic Socket

To our knowledge, there is no report of dermis-fat graft (DFG) implant for orbital reconstruction from Oman. We hereby presented a case report of a 10-year-old boy with a blind and painful left eye secondary to penetrating eye injury presented with implant extrusion following evisceration with a polymethyl methacrylate implant. The evisceration procedure was converted to enucleation and a DFG orbital implant was then performed. Postoperatively, the graft was observed to be well integrated with the host orbital tissues and had good cosmetic and functional outcomes.

Autogenous Dermis-Fat Orbital Impant for Anophthalmic Socket

To our knowledge, there is no report of dermis-fat graft (DFG) implant for orbital reconstruction from Oman. We hereby presented a case report of a 10-year-old boy with a blind and painful left eye secondary to penetrating eye injury presented with implant extrusion following evisceration with a polymethyl methacrylate implant. The evisceration procedure was converted to enucleation and a DFG orbital implant was then performed. Postoperatively, the graft was observed to be well integrated with the host orbital tissues and had good cosmetic and functional outcomes

Intraorbital Foreign Body: Clinical Presentation, Radiological Appearance and Management

Intraorbital foreign bodies usually occur after a high velocity injury such as gunshot or industrial accidents; more rarely they occur following trivial trauma. A retained foreign body can give rise to serious complications, the most devastating of which is loss of the eye. This retrospective, interventional case report reviews the clinical features, radiological appearance and surgical management of two patients who presented at Sultan Qaboos University Hospital, Oman with intraorbital foreign bodies. Details of ocular history, preoperative ocular examination findings including visual acuity, surgical procedure and subsequent management were noted. The two patients, aged 10 years and 9 years old respectively, sustained orbital trauma with sharp objects. Both patients were found to have intraorbital foreign bodies that were documented clearly by computed tomography (CT) scans of the orbit. The first patient presented straight after injury, had no ocular involvement, underwent immediate surgical exploration and ended up with full recovery. The second patient presented to us after a delay of 4 days, and was found to have endophthalmitis. This patient ultimately lost all visual function in the affected eye. A CT scan is the modality of choice for orbital foreign body detection and localization. Early surgical exploration and foreign body extraction greatly influence the visual prognosis and final outcome

Intraorbital Foreign Body: Clinical Presentation, Radiological Appearance and Management

Intraorbital foreign bodies usually occur after a high velocity injury such as gunshot or industrial accidents; more rarely they occur following trivial trauma. A retained foreign body can give rise to serious complications, the most devastating of which is loss of the eye. This retrospective, interventional case report reviews the clinical features, radiological appearance and surgical management of two patients who presented at Sultan Qaboos University Hospital, Oman with intraorbital foreign bodies. Details of ocular history, preoperative ocular examination findings including visual acuity, surgical procedure and subsequent management were noted. The two patients, aged 10 years and 9 years old respectively, sustained orbital trauma with sharp objects. Both patients were found to have intraorbital foreign bodies that were documented clearly by computed tomography (CT) scans of the orbit. The first patient presented straight after injury, had no ocular involvement, underwent immediate surgical exploration and ended up with full recovery. The second patient presented to us after a delay of 4 days, and was found to have endophthalmitis. This patient ultimately lost all visual function in the affected eye. A CT scan is the modality of choice for orbital foreign body detection and localization. Early surgical exploration and foreign body extraction greatly influence the visual prognosis and final outcome

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

A Female Child with Skin Lesions and Seizures: Case report of Incontinentia Pigmenti

Incontinentia Pigmenti (IP), (OMIM # 308300), is a rare X-linked dominant condition. It is a multisystemic disease with neuroectodermal findings involving the skin, eyes, hair, nails, teeth, and central nervous system. It is usually lethal in males; the disease has variable expression in an affected female. We report the case of a 6 month old girl who presented at Sultan Qaboos University Hospital, Oman, with neonatal seizures and hypopigemented/hyperpigmented skin lesions. She had multiple ophthalmic abnormalities and neurological manifestations which are discussed in this report