13 research outputs found
Diagnosis of posttraumatic "endophthalmitis" - management of a 17x7x7mm copper-zinc intraocular gunshell in a child
Pediatric visual rehabilitation by scleral-fixated posterior chamber intraocular lenses in a developing country
Impact of Dietary Patterns and Nutritional Status on the Academic Performance of Omani School Students
In a cross-sectional study, we determined the dietary patterns and nutritional status of Omani school students (12-15 years), and their association with student’s academic performance. A study questionnaire, including a semi-quantitative food frequency questionnaire, was used to collect data. Results indicated that 36% of Omani school students regularly consumed breakfast, whereas only 21.7% had daily 3 meals. Similarly, 30.5% of students consumed fruits ≥ 2 serving/day, 26.6% consumed vegetables ≥ 3 serving/day, and 49.8% consumed fish ≥ 2 serving/week. Significant differences were observed regarding breakfast consumption among genders, regular intake of daily 3 meals, fruits, fish, avoiding soft drinks, nutritional knowledge, total energy and macronutrient intake. Based on BMI, 12.3 % of students were overweight, and 26.1% were obese. The students did not have enough nutritional knowledge and showed unhealthy dietary patterns indicated by their mediocre Omani Diet Scores. Daily energy and macronutrient intakes in males were significantly higher than females. Only fish intake, avoiding soft drinks, waist to height ratio (WHtR), and nutritional knowledge score showed significant associations with student’s academic performance. Healthy dietary patterns and improved nutritional status of school students showed a positive association with their academic performance, suggesting that more focus should be placed in developing healthy dietary patterns
Leukocyte adhesion deficiency type 1 associated with a neonatal necrotizing pseudomonas aeruginosa infection of the ocular adnexa
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
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome
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
Visual Rehabilitation by Scleral Fixation of Posterior Chamber Intraocular Lenses in Amblyopic Aphakic Children
Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib
CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.
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50306.pdf (publisher's version ) (Closed access)PURPOSE: To test human CRB1 heterozygotes for possible clinical or functional retinal changes and to evaluate whether a patient with Leber congenital amaurosis (LCA) with CRB1 mutations not consistent with previously described CRB1 phenotypes carried a modifier allele in another LCA gene. METHODS: Seven unrelated heterozygous carriers of CRB1 mutations underwent phenotyping by full eye examinations (indirect ophthalmoscopy and slit lamp biomicroscopy) and functional testing (standard full-field electroretinography [ERG] and multifocal ERG). For genotyping of the LCA patients and their parents, denaturing high-performance liquid chromatography (dHPLC) analyses were performed, followed by sequence analysis of CRB1, followed by sequence analysis of the AIPL1 and CRX genes to identify a putative modifier effect in a patient with an atypical CRB1 phenotype. RESULTS: Reduced full-field ERG b-wave amplitudes were observed with scotopic -2 dB flash (140 microV; P < 0.05), normal full-field cone ERGs, and significant regional retinal dysfunction on mfERG in five of seven carriers of CRB1 mutations. A known AIPL1 mutation (p. R302L) was identified as a potential modifier allele in a patient with LCA carrying two CRB1 mutations and with a prominent maculopathy. CONCLUSIONS: In human heterozygotes of CRB1 mutations (parents of offspring with LCA), distinctive regional retinal dysfunctions were found by multifocal ERG measurements that were consistent with the focal histologic abnormalities reported for the two CRB1 knockout mice models. This phenotypic finding may identify CRB1 carriers and point to the causal gene defect in affected LCA offspring, significantly facilitating the molecular diagnostic process. Evidence suggests a modifier allele in AIPL1 in a patient with LCA with prominent atrophic macular lesions and homozygous defects in CRB1