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.

No abstract

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.

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.

Background: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.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.

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.

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.

SUPV3L1 encodes a helicase that is mainly localized in the mitochondria. It has been shown in vitro to possess both double-stranded RNA and DNA unwinding activity that is ATP-dependent. Here we report the first two patients for this gene who presented with a homozygous preliminary stop codon resulting in a C-terminal truncation of the SUPV3L1 protein. They presented with a characteristic phenotype of neurodegenerative nature with progressive spastic paraparesis, growth restriction, hypopigmentation, and predisposition to autoimmune disease. Ophthalmological examination showed severe photophobia with corneal erosions, optic atrophy, and pigmentary retinopathy, while neuroimaging showed atrophy of the optic chiasm and the pons with calcification of putamina, with intermittent and mild elevation of lactate. We show that the amino acids that are eliminated by the preliminary stop codon are highly conserved and are predicted to form an amphipathic helix. To investigate if the mutation causes mitochondrial dysfunction, we examined fibroblasts of the proband. We observed very low expression of the truncated protein, a reduction in the mature ND6 mRNA species as well as the accumulation of double-stranded RNA.Lentiviral complementation with the full-length SUPV3L1 cDNA partly restored the observed RNA phenotypes, supporting that the SUPV3L1 mutation in these patients is pathogenic and the cause of the disease.