Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants.

Purpose: Description of retinal phenotype by structural and functional testing, ornithine plasma levels and mutational data of OAT gene in patients with Gyrate Atrophy (GA).

Methods: Ophthalmologic examination, fundus photography (CFP), autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), Goldmann perimetry (GP), full-field electroretinogram (ffERG) and chromatic perimetry (CP) testing were performed. Ornithine plasma levels were measured.

Delayed manifestation of proliferative retinopathy associated with chronic myeloid leukemia.

Purpose: This report highlights a rare case of delayed manifestation of proliferative retinopathy associated with chronic myeloid leukemia (CML) during remission.

Observations: Case report and review of the literature; In this case report, we outline the delayed manifestation and clinical progression of proliferative retinopathy in a 52-year-old male patient with a history of CML diagnosed in 2001. Initially, the patient presented with a white blood cell count (WBC) of 402,200/μl, and the leukocytosis persisted until 2005.

Postoperative Multimodal Analysis in Successful Gas Displacement of a Submacular Hemorrhage.

In this report, we describe a case of timely gas vitrectomy to displace a moderate submacular hemorrhage from the submacular space without tPA, release vitreoretinal traction along the borders of a posterior retinal tear, and analyze postoperative multimodal imaging findings in a 34-year-old male patient whose right eye was injured by a stone. The patient underwent a successful nontissue plasminogen activator gas vitrectomy 3 days after the accident. A multimodal evaluation with spectral-domain optical coherence tomography (SD-OCT), 10-2 and 30-2 campimetry, microperimetry, multifocal electroretinography (mfERG), and visual evoked potentials was performed 6 months after the accident.

Pediatric rhegmatogenous retinal detachment: predictors of anatomic and functional success.

Purpose: This study describes presenting clinical features and surgical techniques associated with successful repair of pediatric rhegmatogenous retinal detachment (RRD).

Methods: This is a retrospective case series which involved 242 cases younger than 18 years with new-onset RRD with descriptive statistics for the full group. Further exclusion established 168 cases that underwent surgery with minimum 3-month follow-up.

Partial Central Retinal Artery Occlusion: An Underrecognized Entity.

Background: The objective of this publication is to report a case of an atypical partial central retinal artery occlusion (CRAO) with substantial visual recovery without treatment.

Case Presentation: An 83-year-old woman without significant medical history with sudden unilateral visual loss presented with no known significant ophthalmological or medical history besides systemic arterial hypertension. Examination showed multiple cotton-wool spots in a peripapillary distribution, as well as a heterogenous pattern of grey translucency in the macula resulting in an indistinct cherry-red spot.

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Background: Retinal dystrophies (RDs) are one of the most genetically heterogeneous monogenic disorders with ~270 associated loci identified by early 2019. The recent application of next-generation sequencing (NGS) has greatly improved the molecular diagnosis of RD patients. Genetic characterization of RD cohorts from different ethnic groups is justified, as it would improve the knowledge of molecular basis of the disease.

Indocyanine green angiography for identifying telangiectatic capillaries in diabetic macular oedema.

Aims: During diabetic macular oedema (DME), a spectrum of capillary abnormalities is commonly observed, ranging from microaneurysms to large microvascular abnormalities. Clinical evidence suggests that targeted photocoagulation of large microvascular abnormalities may be beneficial, but their detection is not done in a routine fashion. It was reported that they are better identified by indocyanine green angiography (ICGA) than by fluorescein angiography.

Preoperative Bevacizumab for Tractional Retinal Detachment in Proliferative Diabetic Retinopathy: A Prospective Randomized Clinical Trial.

Purpose: To assess the effectiveness and safety of an intravitreal injection of 1.25 mg bevacizumab (IVB) as a preoperative adjunct to small-gauge pars plana vitrectomy (PPV) compared with PPV alone in eyes with tractional retinal detachment secondary to proliferative diabetic retinopathy.

Methods: This prospective, double-masked, randomized, multicenter, active-controlled clinical trial enrolled 224 eyes of 224 patients between November 2013 and July 2015.

Susceptibility to advanced age-related macular degeneration and alleles of complement factor H, complement factor B, complement component 2, complement component 3, and age-related maculopathy susceptibility 2 genes in a Mexican population.

Purpose: To investigate the association of age-related macular degeneration (AMD)-high risk alleles of the complement factor H (CFH), complement factor B (CFB), complement component 2 (C2), complement component 3 (C3), and age-related maculopathy susceptibility 2 (ARMS2) genes in a Mexican population for the first time.

Methods: Genotyping was performed for the Y402H variant of CFH, for the L9H, R32Q, and K565E variants of CFB, the E318D variant of C2, the A69S variant of ARMS2, and the R102G variant of C3 in 159 Mexican mestizo patients at advanced stages of AMD, i.e.

Presumed idiopathic central serous chorioretinopathy in a 12-year-old girl.

Idiopathic central serous chorioretinopathy (CSC) typically affects middle-aged males. To date, only one case of idiopathic CSC in a prepubertal subject has been reported. Atypical idiopathic CSC presentation may be challenging to diagnose.

Endophthalmitis after pars plana vitrectomy: results of the Pan American Collaborative Retina Study Group.

Purpose: To determine the incidence of endophthalmitis after 20-, 23-, and 25-gauge pars plana vitrectomies (PPVs).

Methods: Retrospective comparative case series of consecutive patients who underwent 20-, 23-, or 25-gauge PPV at 11 centers from Latin America between 2005 to 2009. Pars plana vitrectomy cases were identified through a search of the billing records of each institution.

Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa.

Objective: Autosomal dominant (AD) inheritance accounts for 15-20% of retinitis pigmentosa (RP) familial cases. The characterization of AD RP-related mutations remains essential because it provides both accurate diagnosis and clinically important prognostic information. Rhodopsin (RHO) and peripherin/RDS are the two most common mutated genes in AD RP in several series.

Radial optic neurotomy for central retinal vein occlusion: results of the Pan-American Collaborative Retina Study Group (PACORES).

Objective: To evaluate the complications after radial optic neurotomy (RON) for central retinal vein occlusion (CRVO).

Methods: Seventy-three consecutive patients (73 eyes) with CRVO who were treated with RON participated in a retrospective, uncontrolled, interventional, multicenter case series at 7 institutions from 6 countries.

Results: In the ischemic CRVO group (n = 53), 32% of eyes had an improvement in best-corrected visual acuity (BCVA) (mean, 5.

Novel CYP4V2 gene mutation in a Mexican patient with Bietti's crystalline corneoretinal dystrophy.

Purpose: To report the clinical and genetic analysis of a Mexican female patient with a sporadic Bietti's crystalline corneoretinal dystrophy.

Methods: Ophthalmological examination included best-corrected visual acuity, slit lamp examination, applanation tonometry, fundus photography, fluorescein retinal angiography, Goldmann kinetic perimetry, corneal rotating Scheimpflug imaging, and anterior segment optical coherence tomography (Visante OCT). Genetic analysis included PCR amplification and direct nucleotide sequencing of the entire CYP4V2 gene in DNA from the propositus and her relatives.

Optical coherence tomography characteristics of group 2A idiopathic parafoveal telangiectasis.

Purpose: To describe the optical coherence tomography (OCT) characteristics of patients with group 2A idiopathic parafoveal telangiectasis (IPFT) and to correlate them with biomicroscopic and fluorescein angiographic (FA) findings based on Gass and Blodi staging classification for group 2A IPFT.

Methods: Fifty-two eyes of 26 consecutive patients with IPFT underwent biomicroscopic fundus examination, color fundus photography, FA, and OCT. Main outcome measures were OCT characteristics and their correlation with biomicroscopy and FA.

A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.

Purpose: To describe the clinical and genetic characteristics of a new ophthalmic syndrome, which consists of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen, that segregates as an autosomal recessive trait in a family with four affected siblings. The membrane-type frizzled-related protein (MFRP) and CEH10 homeodomain-containing homolog (CHX10) genes, previously implicated in autosomal recessive forms of nanophthalmos/microphthalmos, were analyzed as candidate genes for this novel disease.

Methods: Complete ophthalmologic examinations were performed in four affected siblings and their parents.