Highlights of Ophthalmology

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2021 | February | Volume 49 | Issue 1ENG

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María Ana Redal, Ariana González, Gabriel Marsango, Maria Florencia Trevisani, María Angélica Moussalli

Pharmacogenomic Implications of the Exome Study in Ophthalmology. Case Report

[Year:2021] [Month:February] [Volume:49] [Number:1ENG] [Pages:6] [Pages No:4 - 9]

   DOI: 10.5005/hoe-10101-49101  |  (Buy Now)  |  How to cite  | 

Abstract

Axenfeld Rieger Syndrome type 3 (RIEG3) is an autosomal dominant pathology of incomplete penetrance, which is characterized by presenting alterations of the anterior segment of the eye, it can also be accompanied by extraocular manifestations. About 50% of patients could develop glaucoma. RIEG3 is characterized by mutations in the FOXC1 gene (6p25), which codes for the prostaglandin receptor EP3 (PTGER3). Mutations in this gene cause the receptors to malfunction. On the other hand, primary congenital glaucoma is an autosomal recessive disorder, associated with mutations in the CYP1B1 gene, these mutations show altered kinetics for estradiol hydroxylation. In this pathology, glaucoma occurs due to trabeculodysgenesis, there is a defective drainage of the aqueous humor due to an abnormal development of the angle of the anterior chamber, which produces an increase in intraocular pressure (IOP). For the reduction of IOP in both pathologies, prostaglandins (such as, for example, Latanoprost) are used as treatment. The case of a 13-year-old girl is presented, treated for primary congenital glaucoma with Travoprost and previously with Latanoprost, with a paternal history of RIEG. Exome Sequencing is performed, with the SureSelectXT Human All Exon V5 capture method (Agilent Technologies), clonal amplification and sequencing of the selected regions on the Illumina HiSeq platform following the paired-ends strategy with subsequent bioinformatic study of the sequence. DNA obtained by comparison with the reference nucleotide sequence (GRCh38). A “Probably Pathogenic” mutation, not previously reported, was detected in the FOXC1 gene (NM_001453.2): c.365G> A (p. Trp122Ter), which generates a premature STOP codon. This variant is of “loss of function” of the FOXC1 gene and is associated with a lack of response to treatment with prostaglandins.

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Unsatisfactory Visual Outcome after Premium Cataract Surgery

[Year:2021] [Month:February] [Volume:49] [Number:1ENG] [Pages:5] [Pages No:10 - 14]

   DOI: 10.5005/hoe-10101-49102  |  (Buy Now)  |  How to cite  | 

Abstract

Objective: to present a “model case” of a patient who is dissatisfied with the outcome of the Premium IOL implant. Case description: with 3 weeks of postoperative, unsatisfied patient with the quality of vision. The objective causes responsible for the unsatisfaction are diagnosed and treated, with satisfactory results. Conclusion: a review of the possible objective causes and treatment stages is made. Clinical importance: how to prevent and treat this situation.

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Naon Kim, Paz Rodríguez Ausín

Squamous Eye Surface Neoplasia

[Year:2021] [Month:February] [Volume:49] [Number:1ENG] [Pages:12] [Pages No:15 - 26]

   DOI: 10.5005/hoe-10101-49103  |  (Buy Now)  |  How to cite  | 

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