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1.
Clin Ophthalmol ; 17: 837-842, 2023.
Article in English | MEDLINE | ID: mdl-36960323

ABSTRACT

Purpose: To analyze visual outcomes and accuracy of intraocular lens (IOL) calculation formulas in predicting postoperative outcomes in patients undergoing flanged intrascleral IOL fixation. Design: Case Series. Subjects: Twenty-three patients who had undergone secondary IOL placement using flanged intrascleral fixation technique. Methods: Retrospective chart review. Main Outcome Measures: Corrected distance visual acuity (CDVA) and postoperative spherical equivalent based on manifest refraction. Results: Visual acuity improved from 20/577 to 20/58. Overall, the actual refraction was 0.06 D more myopic than predicted. Holladay 2, Sanders Retzlaff Kraff/Theoretical (SRK/T) and Barrett Universal II resulted in mild myopic surprise (-0.55, -0.18 and -0.20 D). Haigis and Hill-RBF (Radial Basis Function) resulted in mild hyperopic surprise (+0.28 and +0.28 D). Hoffer Q and Holladay 1 were the most accurate (-0.02D and -0.08 D). Conclusion: Flanged intrascleral IOL fixation improved vision even in patients with other posterior segment pathologies. The effective lens positioning is likely similar to in-the-bag positioning. Hoffer Q and Holladay 1 formulas with in-the-bag calculations were the most accurate.

2.
Neuroophthalmology ; 40(3): 130-132, 2016 Jun.
Article in English | MEDLINE | ID: mdl-27928396

ABSTRACT

Horner syndrome can be caused by a wide range of pathologies along the sympathetic nerve chain, from the hypothalamus to the orbit. Imaging workup of Horner syndrome is necessary given the potential for deadly lesions, especially in a patient with a previous cancer history. The authors report a case of a woman who presented with a preganglionic Horner syndrome secondary to vertebral metastasis from previously diagnosed breast cancer that involved the neural foramina at T1 and T2.

3.
Am J Hum Genet ; 92(4): 614-20, 2013 Apr 04.
Article in English | MEDLINE | ID: mdl-23541342

ABSTRACT

The genetic causes of premature ovarian failure (POF) are highly heterogeneous, and causative mutations have been identified in more than ten genes so far. In two families affected by POF accompanied by hearing loss (together, these symptoms compose Perrault syndrome), exome sequencing revealed mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase: homozygous c.1565C>A (p.Thr522Asn) in a consanguineous Palestinian family and compound heterozygous c.1077delT and c.1886C>T (p.Thr629Met) in a nonconsanguineous Slovenian family. LARS2 c.1077delT leads to a frameshift at codon 360 of the 901 residue protein. LARS2 p.Thr522Asn occurs in the LARS2 catalytic domain at a site conserved from bacteria through mammals. LARS2 p.Thr629Met occurs in the LARS2 leucine-specific domain, which is adjacent to a catalytic loop critical in all species but for which primary sequence is not well conserved. A recently developed method of detecting remote homologies revealed threonine at this site in consensus sequences derived from multiple-species alignments seeded by human and E. coli residues at this region. Yeast complementation indicated that LARS2 c.1077delT is nonfunctional and that LARS2 p.Thr522Asn is partially functional. LARS2 p.Thr629Met was functional in this assay but might be insufficient as a heterozygote with the fully nonfunctional LARS2 c.1077delT allele. A known C. elegans strain with the protein-truncating alteration LARS-2 p.Trp247Ter was confirmed to be sterile. After HARS2, LARS2 is the second gene encoding mitochondrial tRNA synthetase to be found to harbor mutations leading to Perrault syndrome, further supporting a critical role for mitochondria in the maintenance of ovarian function and hearing.


Subject(s)
Amino Acyl-tRNA Synthetases/genetics , Gonadal Dysgenesis, 46,XX/genetics , Hearing Loss, Sensorineural/genetics , Hearing Loss/etiology , Leucine-tRNA Ligase/genetics , Mitochondria/enzymology , Mutation/genetics , Primary Ovarian Insufficiency/etiology , Adolescent , Amino Acid Sequence , Amino Acyl-tRNA Synthetases/chemistry , Amino Acyl-tRNA Synthetases/metabolism , Child , Exome/genetics , Female , Gonadal Dysgenesis, 46,XX/complications , Hearing Loss, Sensorineural/complications , Homozygote , Humans , Male , Mitochondria/genetics , Molecular Sequence Data , Pedigree , Phenotype , Protein Conformation , Sequence Homology, Amino Acid
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