- Magrabi ICO Cameroon Eye Institute, Yaoundé, Cameroon: Ophthalmology Subspecialty Patient Care and Training Center in Central Africa. [Journal Article]
- AJAm J Ophthalmol 2018 Sep 18
- CONCLUSIONS: Through ophthalmology subspecialty patient care and the training of ophthalmologists and allied personnel, Magrabi ICO Cameroon Eye Institute is acting to enhance vision and the quality of life for individuals and families in all segments of society.
- Causes Of Visual Impairment And Blindness In The 2006 And 2014 Nine-Province Surveys In Rural China. [Journal Article]
- AJAm J Ophthalmol 2018 Sep 18
- CONCLUSIONS: Uncorrected refractive error and unoperated cataract are the two primary causes of mild, moderate and severe visual impairment in rural China, with unoperated cataract and retinal diseases primary causes for blindness. An effective public health strategy to increase service delivery for these causes would lead to substantial reduction in vision impairment and blindness.
- Diagnosis, clinical presentations and outcomes of Nocardia endophthalmitis. [Journal Article]
- AJAm J Ophthalmol 2018 Sep 18
- CONCLUSIONS: The visual outcome in Nocardia endophthalmitis is very guarded when presenting vision is poor. On diagnostic confirmation or high index of suspicion intravitreal amikacin is preferred.
- GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay. [Journal Article]
- HMHum Mol Genet 2018 Sep 18
- Loss-of-function mutations in glutaminase (GLS), the enzyme converting glutamine into glutamate, and the counteracting enzyme glutamine synthetase (GS) cause disturbed glutamate homeostasis and sever...
Loss-of-function mutations in glutaminase (GLS), the enzyme converting glutamine into glutamate, and the counteracting enzyme glutamine synthetase (GS) cause disturbed glutamate homeostasis and severe neonatal encephalopathy. We report a de novo Ser482Cys gain-of-function variant in GLS encoding glutaminase associated with profound developmental delay and infantile cataract. Functional analysis demonstrated that this variant causes hyperactivity and compensatory downregulation of GLS expression combined with upregulation of the counteracting enzyme GS, supporting pathogenicity. Ser482Cys-GLS likely improves the electrostatic environment of the GLS catalytic site, thereby intrinsically inducing hyperactivity. Alignment of +/-12.000 GLS protein sequences from >1000 genera, revealed extreme conservation of Ser482, to the same degree as catalytic residues. Together with the hyperactivity, this indicates that Ser482 is evolutionarily preserved to achieve optimal -but submaximal- GLS activity. In line with GLS hyperactivity, increased glutamate and decreased glutamine concentrations were measured in urine and fibroblasts. In the brain (both grey and white matter), glutamate was also extremely high and glutamine almost undetectable, using ultra-high field magnetic resonance spectroscopic imaging. Considering the neurotoxicity of glutamate when present in excess, the strikingly high glutamate concentrations measured in the brain provide an explanation for the developmental delay. Cataract, a known consequence of oxidative stress, was evoked in zebrafish expressing the hypermorphic Ser482Cys-GLS and could be alleviated by inhibition of GLS. The capacity to detoxify reactive oxygen species was reduced upon Ser482Cys-GLS expression, providing an explanation for cataract formation. In conclusion, we describe an inborn error of glutamate metabolism caused by a GLS hyperactivity variant, illustrating the importance of balanced GLS activity.
- Efficacy of Intravitreal Dexamethasone Implant in Patients of Uveitis Undergoing Cataract Surgery. [Journal Article]
- OIOcul Immunol Inflamm 2018 Sep 21; :1-9
- CONCLUSIONS: Intraoperative intravitreal dexamethasone implant is a safe and effective option for preventing and managing the postoperative inflammation in uveitic cataract.
- Comparison of optical biometry versus ultrasound biometry in cases with borderline signal-to-noise ratio. [Journal Article]
- COClin Ophthalmol 2018; 12:1757-1762
- CONCLUSIONS: Our study suggests that, in cases of borderline quality data, IOL power and AL measurements with optical biometry are still useful in surgical planning and that additional US measurements may be used more as a corroborative tool.
- Biochemical characterization of the PHARC associated serine hydrolase ABHD12 reveals its preference for very long chain lipids. [Journal Article]
- JBJ Biol Chem 2018 Sep 20
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a rare genetic human neurological disorder caused by null mutations to the Abhd12 gene, which encodes the integral ...
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a rare genetic human neurological disorder caused by null mutations to the Abhd12 gene, which encodes the integral membrane serine hydrolase enzyme ABHD12. While the role that ABHD12 plays in PHARC is understood, the thorough biochemical characterization of ABHD12 is lacking. Here, we report the facile synthesis of mono-1-(fatty)acyl-glycerol lipids of varying chain lengths and unsaturation, and use this lipid substrate library, to biochemically characterize recombinant mammalian ABHD12. The substrate profiling study for ABHD12 suggested that this enzyme requires glycosylation for optimal activity, and that is has a strong preference for very long chain lipid substrates. We further validated this substrate profile against brain membrane lysates generated from wild type and ABHD12 knockout mice. Finally, using cellular organelle fractionation and immunofluorescence assays, we show that mammalian ABHD12 is enriched on the endoplasmic reticulum membrane, where most of the very long chain fatty acids are biosynthesized in cells. Taken together, our findings provide a biochemical explanation for why very long chain lipids (such as lysophosphatidylserine lipids) accumulate in the brains of ABHD12 knockout mice, which is a murine model of PHARC.
- Use of the crystalline lens equatorial plane (LEP) as a new parameter for predicting postoperative IOL position. [Journal Article]
- AJAm J Ophthalmol 2018 Sep 17
- CONCLUSIONS: LEP is a promising measure from preoperative crystalline lens geometry and could serve as a new parameter to improve refractive outcomes in cataract surgery.
- Changes of intraocular pressure after cataract surgery in myopic and emmetropic patients. [Journal Article]
- MMedicine (Baltimore) 2018; 97(38):e12023
- To investigate the intraocular pressure (IOP) changes after cataract surgery, and its relationship with refractive conditions.IOP after phacoemulsification with intraocular lens (IOL) implantation wa...
To investigate the intraocular pressure (IOP) changes after cataract surgery, and its relationship with refractive conditions.IOP after phacoemulsification with intraocular lens (IOL) implantation was retrospectively reviewed. Patients were classified into 3 groups by refractive conditions: emmetropia, mild to moderate myopia, and high myopia. Basic information was collected including age, sex, place of IOL, and operating surgeon, with IOP and refractive conditions measured before surgery, and 1, 7, 30, and 90 days after surgery.The study comprised 353 eyes from 353 patients, of which 175 were emmetropia, 130 were mild to moderate myopia, and 48 were high myopia. A lower IOP than baseline was observed at 7, 30, and 90 days after surgery in emmetropic and mild to moderate myopia, while in high myopia, IOP was instable from 1 to 30 days, and reduced only in 90 days after surgery. Changes of IOP was more significant from 1 to 7 days in emmetropic and mild to moderate myopic patients, but from 30 to 90 days in high myopia. Patients over 75 showed a lower IOP at each follow-up than patients younger and female showed a higher baseline IOP than male. Different surgeons might influence the IOP fluctuation at first 90 days but not the final IOP.All patients with different refractive conditions showed a remarkably lower IOP at 90 days after cataract surgery. However, high myopia lowered the speed of IOP reduction, which might be explained by the anatomical changes of eye structure.
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- Comparison of success rates in eye drop instillation between sitting position and supine position. [Journal Article]
- PlosPLoS One 2018; 13(9):e0204363
- CONCLUSIONS: In the present study, the success rate of eye drop instillation was significantly higher when applied in the supine position than in the sitting position.