Otávio de Azevedo Magalhães

Universidade Federal de São Paulo

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Co-Authors

Luiza Birck Klein

Hospital Mãe de Deus

Diane Ruschel Marinho

Hospital de Clínicas de Porto Alegre

Claudia L. Kronbauer

Hospital de Clínicas de Porto Alegre

Marcelo Blochtein Golbert

Hospital Mãe de Deus

Lavínia Schüler‐Faccini

Universidade Federal do Rio Grande do Sul

Ricardo Mörschbächer

Hospital Mãe de Deus

Maurício Coelho Lima

Universidade Estadual de Campinas (UNICAMP)

Jarbas Caiado de Castro Neto

Universidade de São Paulo

JÁ

José Álvaro Pereira Gomes

Universidade Federal de São Paulo

José Antônio de Azevedo Magalhães

Hospital de Clínicas de Porto Alegre

Cooperative Institutions

Hospital de Clínicas de Porto Alegre

Universidade Federal do Rio Grande do Sul

Universidade Federal de São Paulo

National Institute on Population Medical Genetics

Hospital de Clínicas

Universidade de São Paulo

University of California, Los Angeles

Doheny Eye Institute

Universidade Federal do Rio Grande

Services Hospital

Author Statistics

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Corneal Perforation associated with “Silent Brain Syndrome”

Arquivos Brasileiros de Oftalmologia (2023)

Otávio de Azevedo Magalhães Maurício Coelho Lima Marcelo Blochtein Golbert Luiza Birck Klein Ricardo Mörschbächer

This case report describes the clinical characteristics and ophthalmic management of a patient who developed corneal perforation due to severe enophthalmos consistent with "silent brain syndrome." A 27-year-old man with a history of congenital hydrocephalus and ventriculoperitoneal shunt was referred with complaints of "sinking of the eyeballs" and progressively decreasing vision in the left eye. Examination revealed severe bilateral enophthalmos in addition to superonasal corneal perforation with iris prolapse in the left eye. The patient underwent therapeutic keratoplasty the next day. Orbital reconstruction with costochondral graft and shunt revision of the intracranial hypotension were performed the next month to prevent further progression.

Enophthalmos

Corneal perforation

Perforation

10.5935/0004-2749.20230004

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Citations (1)

Whole-exome sequencing in familial keratoconus: the challenges of a genetically complex disorder

Arquivos Brasileiros de Oftalmologia (2019)

Otávio de Azevedo Magalhães Thayne Woycinck Kowalski Gabriela Elis Wachholz Lavínia Schüler‐Faccini

The underlying genetic causes of keratoconus are essentially unknown. Here, we conducted whole-exome sequencing in 2 Brazilian families with keratoconus.Whole-exome sequencing was performed on 6 keratoconus-affected individuals of 2 unrelated pedigrees from Southern Brazil. Pathogenic variants were identified in a modified Trio analysis (1 parent and 2 children) using candidate gene filtering. All the affected subjects underwent detailed corneal tomographic evaluation. Clinically relevant variants that were present in affected individuals at minor allele frequencies <1% were examined in the 1000 Genomes Project single nucleotide polymorphism ABraOM and transcription gene (RefSeq and Ensembl) databases.In family 1, a sequence variant in chromosome 1 (q21.3) was observed within the filaggrin gene. All the tested family members shared a heterozygous missense pathogenic variant in the c.4678C>T position. In family 2, exome analysis demonstrated a sequence variant in chromosome 16 (q24.2) within the gene encoding zinc finger protein 469 (ZNF469). Members of family 2 shared a heterozygous missense variant in the c.1489G>A position. In addition, the exomes of the 2 families were examined for shared genetic variants among all affected individuals. Filtering criteria did not identify any rare sequence variants in a single gene segregated in both families.Our findings show that a complete genotype-phenotype correlation could not be identified, suggesting that keratoconus is a genetically heterogeneous disease. In addition, we believe that whole-exome sequencing-based segregation analysis is probably not the best strategy for identifying variants in families with isolated keratoconus.

Exome

Candidate gene

10.5935/0004-2749.20190087

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Citations (11)

Corneal ectasia associated with posterior lamellar opacification

Ophthalmic Genetics (2021)

Madeline Yung Angela C. Chen Doug D. Chung Alice Barrington Junwei Zhang

Concomitant corneal ectasia and posterior lamellar corneal opacification is rare, and the genetic relationship between these two conditions is unclear. We report the genetic and clinical characterization of this phenotype in three unrelated individuals.One previously reported affected individual and two unreported, unrelated, affected individuals were recruited for the study. Subjects and unaffected relatives underwent slit lamp examination, refraction, and multi-modal imaging. Saliva samples were obtained from two of the three affected individuals, from which DNA was extracted. Sanger sequencing was performed to identify mutations in genes associated with posterior amorphous corneal dystrophy (PACD), brittle cornea syndrome (BCS), and posterior polymorphous corneal dystrophy (PPCD), while copy number variation (CNV) analysis was used to identify CNV in the PACD locus.Affected individuals demonstrated bilateral corneal steepening, stromal thinning and lamellar posterior corneal opacification. Corneal topography and tomography revealed conical or globular corneal steepening and decreased thickness. Anterior segment optical coherence tomography demonstrated hyperreflectivity of the posterior stroma in each of the affected individuals. Genetic testing did not detect a heterozygous deletion involving the PACD locus on chromosome 12 or a pathogenic mutation in the genes associated with BCS or PPCD.Corneal ectasia may be associated with posterior lamellar stromal opacification that appears consistent with PACD. However, genetic testing for PACD as well as BCS and PPCD in affected individuals fails to reveal pathogenic deletions or mutations, indicating that other genetic factors are involved.

Ectasia

Corneal dystrophy

10.1080/13816810.2021.1923034

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Citations (3)

OP06.18: Prenatal diagnosis of non‐immune hydrops fetalis

Ultrasound in Obstetrics and Gynecology (2006)

José Antônio de Azevedo Magalhães Otávio de Azevedo Magalhães Ricardo Palma Dias Alessandra Fritsch Rejane Gus

This study aims to describe the etiologies of non-immune hydrops fetalis (NIHF) cases seen at Hospital de Clínicas de Porto Alegre (HCPA), Brazil. 73 pregnant women with live singletons fetuses that where referred to our Fetal medicine unit after sonographic findings of NIHF between March/1992 and March/2006. Patients underwent detailed fetal anomaly scan, amniocentesis (for fetal karyotype, inborn errors of metabolism, PCR for infectious diseases and analysies for hemoglobinopathies), fetal echocardiography and fetal authopsy when necessary. Table 1. 73 cases of NIHF The most common causes of NIHF in our hospital were chromosomal and cardiovascular disorders. We observed a greater prevalence of congenital infections compared to those reported in the literature. We didn't find any case of hematologic etiology. The prenatal diagnosis of NIHF should always prompt a referral to a tertiary fetal medicine unit. Despite considerable advances in understanding and diagnostic techniques, many cases remain undiagnosed and unexplained.

Hydrops fetalis

Amniocentesis

Etiology

Fetal echocardiography

10.1002/uog.3196

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Citations (0)

Literature review and suggested protocol for prevention and treatment of corneal graft rejection

Eye (2019)

Otávio de Azevedo Magalhães Ahmed Shalaby Bardan Mehran Zarei-Ghanavati Christopher Liu

Corneal Transplant

Graft rejection

Treatment protocol

10.1038/s41433-019-0517-9

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Citations (31)

Collagen I Defect Corneal Profiles in Osteogenesis Imperfecta

Cornea (2018)

Otávio de Azevedo Magalhães Helena C. Rohenkohl Liliane Todeschini de Souza Lavínia Schüler‐Faccini Têmis Maria Félix

Purpose: The goal of this study was to evaluate corneal profiles of patients with osteogenesis imperfecta (OI) due to a collagen I gene mutation. Methods: This was a cross-sectional comparative study. There were 84 eyes from 42 patients with OI types I, III, and IV who were recruited from the OI Clinic at the Clinical Hospital of Porto Alegre, Brazil. All cases presented either COL1A1 or A2 gene mutations. Controls were matched by sex, age, and refractive error. Corneal Scheimpflug tomography was used to determine curvature and thickness parameters in both groups. Results: Quantitative collagen mutations were found only in OI type I. Qualitative mutations were responsible for all mutations observed in type III and IV patients. Each OI type presented significantly lower pachymetric values at the thinnest point compared with controls (443.7–505.1 vs. 541.9–548.5 μm; P < 0.001). In addition, significantly lower pachymetric values were observed in patients with OI compared with controls in all positions between the central and corneal periphery (581.4–657.0 vs. 704.5–720.7 μm at an 8.0-mm-diameter circle; P < 0.001). Differences in anterior and posterior radii of curvatures, respectively, between patients with OI and controls were not statistically significant (7.64–7.80 vs. 7.65–7.69 mm; P > 0.05) except for a lower anterior radii of curvatures in type III (7.33 vs. 7.72 mm; P < 0.01). Conclusions: Although patients with OI have homogenously thinner corneas compared with controls, we observed that a collagen I chain mutation was not responsible for corneal curvature alterations in OI.

Scheimpflug principle

Type I collagen

10.1097/ico.0000000000001764

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Citations (13)

Prevalence of Keratoconus Among High School Students in Southern Brazil: A Community-Based Study

Eye & Contact Lens Science & Clinical Practice (2024)

Otávio de Azevedo Magalhães Bruna Nunes Pagano Luana Veber Grellmann Victor Sanchez Zago Claudia L. Kronbauer

This study aimed to determine the prevalence of keratoconus (KC) in teenagers who live in Southern Brazil and detect any possible associated factors.

10.1097/icl.0000000000001066

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Citations (3)

Imaginologia do sistema nervoso central por ultra-sonografia e ressonância magnética fetal : ensaio iconográfico

José Antônio de Azevedo Magalhães Otávio de Azevedo Magalhães José Carlos Soares de Fraga Ana P. Pertence

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Under pressure: keratoconus and intraocular pressure elevation evidence

Expert Review of Ophthalmology (2023)

Otávio de Azevedo Magalhães

Elevation (ballistics)

10.1080/17469899.2023.2216931

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Topical 0.03% tacrolimus preventing rejection in high-risk corneal transplantation: a cohort study

British Journal of Ophthalmology (2013)

Otávio de Azevedo Magalhães Diane Ruschel Marinho Sérgio Kwitko

Background/aims

The present study aims to identify the rate of rejection and safety of 0.03% tacrolimus eye drops associated with 1% prednisolone in a topical formulation, comparing them with the use of 1% prednisolone eye drops alone in patients with high-risk corneal transplantation.

Methods

Retrospective cohort study with 72 patients (72 eyes) who underwent more than one penetrating keratoplasty (PK) in the same eye or had severe chemical burn between 2004 and 2011 in the department of cornea and external disease of the Clinical Hospital of Porto Alegre, Brazil. We compared the records of 36 patients that performed unilateral PK and received only 1% prednisolone eye drops between May 2004 and July 2008, with 36 patients that received 0.03% tacrolimus eye drops in addition to 1% prednisolone between August 2008 and August 2011.

Results

The mean follow-up of the group exposed to tacrolimus was 23.1 months and 24.0 in the prednisolone alone group. The demographics, intraoperative and initial indications for first PK were similar between groups, as well as the number of regrafts performed. Intraocular pressure (IOP) was not statistically different among groups. Regarding irreversible rejections, topical tacrolimus showed greater protection: only seven grafts (19.4%) lost transparency against 16 (44.4%) in the 1% prednisolone alone group (p <0.05).

Conclusions

Topical 0.03% tacrolimus was effective in preventing irreversible rejection in patients with high-risk corneal transplantation without increasing IOP.

Graft rejection

10.1136/bjophthalmol-2013-303639

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Citations (59)