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

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

Septo-optic dysplasia [SOD], also known as de-Morsier's 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. 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. 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. 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. 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

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. 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. 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. 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. 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

Compliance of amblyopic patients with occlusion therapy: a pilot study

Increasing evidence shows that good compliance with occlusion therapy is paramount for successful amblyopia therapy. To study the degree of compliance and explore factors affecting compliance in patients undergoing occlusion therapy for amblyopia in our practice. Nonrandomized clinical intervention study. 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. 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. 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

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

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

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