Diffuse retinal pigment epithelium atrophy following pars plana vitrectomy for high myopic macular hole assisted by Brilliant Blue G: A case report.

Purpose: To describe a case of diffuse retinal pigment epithelium (RPE) disturbance following 23-gauge pars plana vitrectomy (PPV) with the inverted internal limiting membrane (ILM) technique and Brilliant Blue staining for a high myopic macular hole (MH).

Observations: A 53-year-old pseudophakic high myopic female was referred to the Vitreoretinal Department with a diagnosis of a full thickness myopic MH of her right eye. Her initial visual acuity was 20/40 of her right eye and 20/20 in the left eye.

Identification of a novel homozygous mutation as the second cause of Usher syndrome type 4.

Purpose: Usher syndrome is a genetic disease characterized by combined sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia, with 15 known causative genes. Depending on the severity and onset of the symptoms, 3 different subtypes of the pathology have been classically established, although an increasing number of rare cases are being accumulated as atypical forms. The present work aims to discover the genetic cause in a patient with atypical Usher syndrome, by performing whole exome sequencing in several family members.

Relationship between Aflibercept Efficacy and Genetic Variants of Genes Associated with Neovascular Age-Related Macular Degeneration: The BIOIMAGE Trial.

Purpose: To identify the genetic variants of the vascular endothelial growth factor (VEGF) pathway genes and other genes associated with neovascular age-related macular degeneration (nAMD) as possible predictive biomarkers of a favorable treatment response to aflibercept.

Design: A 52-week (with extension phase: 104-week), prospective, open-label, single-arm, multicenter, phase IV trial was conducted in Spain.

Participants: Patients with nAMD were enrolled.

Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations.

Cone-rod dystrophies (CRD) are a group of Inherited Retinal Dystrophies (IRD) characterized by the primary involvement of cone photoreceptors, resulting in the degeneration of the central retina, or macula. Although there are more than 55 CRD genes, a considerable percentage of cases remain unsolved. In this context, the present study aimed to describe and characterize the phenoptype and the genetic cause of 3 CRD families from a cohort of IRD cases.

Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene.

Retinitis pigmentosa (RP) is an inherited retinal dystrophy characterized by the progressive degeneration of photoreceptors. In the present study, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with a dominant mutation in the RHO gene, responsible for the synthesis of rhodopsin. The reprogramming of these iPSCs was performed from skin fibroblasts by the Sendai-virus based approach.

Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations.

Recessive Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene, which plays a role as a retinaldehyde flippase in the photoreceptor outer segments. In this work, two human induced pluripotent stem cell (iPSC) lines were generated from STGD1 patients carrying compound heterozygous mutations in ABCA4. Skin fibroblasts were reprogrammed with the Yamanaka factors using a non-integrating, Sendai virus-based approach.

Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.

Inherited retinal dystrophies (IRD) comprise a wide group of clinically and genetically complex diseases that progressively affect the retina. Over recent years, the development of next-generation sequencing (NGS) methods has transformed our ability to diagnose heterogeneous diseases. In this work, we have evaluated the implementation of whole exome sequencing (WES) for the molecular diagnosis of IRD.

MACULAR BUCKLING WITH ANDO PLOMBE MAY INCREASE CHOROIDAL THICKNESS AND MIMIC SEROUS RETINAL DETACHMENT SEEN IN THE TILTED DISK SYNDROME.

Purpose: Serous subfoveal detachment has been described in the literature as a complication that appears at the border of the staphyloma. Macular buckling induces a postoperative inward bulge that resembles the ridge of a staphyloma. We describe three patients who developed a serous subfoveal detachment after uneventful macular buckling.

Effect of intravitreal injection of dexamethasone 0.7 mg (Ozurdex®) on intraocular pressure in patients with macular edema.

Background: To evaluate the effect of Ozurdex® on intraocular pressure in patients with macular edema alone (group 1) or associated with glaucoma or ocular hypertension (group 2).

Methods: A clinical, retrospective, observational, comparative study included 92 eyes with macular edema treated with a single injection of Ozurdex®; 27 eyes were previously diagnosed with glaucoma or ocular hypertension.

Results: The mean intraocular pressure (group 1 vs.

Myopic traction maculopathy.

Myopic traction maculopathy is a high myopia-related complication caused by several mechanisms with traction as a common pathway. Macular hole-related retinal detachment is considered to be the final stage of progressive foveoschisis. In this setting, release of all vitreous and epiretinal tractions is essential in order to achieve surgical success.

Surgical outcomes of macular buckling techniques for macular retinoschisis in highly myopic eyes.

Purpose: To report the anatomic and visual results following macular buckling for patients with macular retinoschisis related to high myopia.

Methods: Thirty-nine highly myopic eyes (mean refractive error -16.7 D; range, -9 to -24 D) of 36 patients (mean age 59 years; range, 35-79 years) presenting with macular retinoschisis associated with a posterior staphyloma, who underwent combined vitrectomy and macular buckling were evaluated.

Visual and anatomical outcome after macular buckling for macular hole with associated foveoschisis in highly myopic eyes.

Background: Macular hole (MH) with associated foveoschisis is very specific to highly myopic eyes with a pronounced posterior staphyloma. A high axial length increases the risk of foveoschisis, MH formation and retinal detachment secondary to a macular hole (MHRD). These highly myopic MH show poor surgical outcomes after vitrectomy and internal limiting membrane peeling compared with non-myopic MH.

Macular buckling for previously untreated and recurrent retinal detachment due to high myopic macular hole: a 12-month comparative study.

Purpose: To evaluate postoperative outcomes after macular buckling together with pars plana vitrectomy (PPV) in previously untreated and recurrent retinal detachment secondary to macular hole (MH) in highly myopic eyes.

Methods: In a retrospective cohort study, 42 eyes of 42 high myopic patients with retinal detachment due to MH were evaluated. Patients were divided into previously untreated retinal detachment (group 1, 21 eyes) and recurrent retinal detachment (group 2, 21 eyes).

Scleral fixation of dexamethasone intravitreal implant (OZURDEX®) in a case of angle-supported lens implantation.

OZURDEX(®) is a biodegradable drug delivery system which has been reported to be an effective treatment in cases of macular edema. However, migration of the implant into the anterior chamber with elevation of intraocular pressure and corneal decompensation might occur in some cases. We report a case of an 80-year-old male who underwent intravitreal scleral fixation of OZURDEX(®) due to postoperative macular edema secondary to complicated cataract surgery.

Assessment of OCT measurements as prognostic factors in myopic macular hole surgery without foveoschisis.

Background: To assess the role of Spectral Domain Optical Coherence Tomography (SD-OCT) measurements as prognostic factors in myopic macular hole (MMH) surgery.

Methods: In a retrospective cohort study, we evaluated 42 eyes of 42 patients (Spherical equivalent > -6.00 D) who underwent pars plana vitrectomy with internal limiting membrane peeling for MMH without foveoschisis.

Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families.

Purpose: To characterize the molecular basis of two novel BEST1 mutations causing autosomal recessive bestrophinopathy (ARB). Strong evidence argues in favor of the dominant negative effects of most autosomal dominantly inherited mutations, whereas there is only weak support for the molecular basis of the ARB phenotype.

Methods: Patients underwent ophthalmic examination, color and autofluorescence fundus imaging, optical coherence tomography (OCT), electrooculogram, and full-field electroretinogram (ERG).

Macular buckling for eyes with myopic foveoschisis secondary to posterior staphyloma.

Purpose: To determine the effectiveness of macular buckling in eyes with myopic foveoschisis and describe two methods of macular buckling: hard silicone implant and Ando plombe.

Methods: Sixteen eyes of 16 consecutive patients with myopic foveoschisis who underwent surgery with the macular buckling procedure were studied. Pars plana vitrectomy combined with macular buckling with hard silicone implant was used in 6 eyes, whereas the other 10 eyes underwent pars plana vitrectomy and macular buckling with the Ando macular plombe.

Radiation maculopathy after epimacular brachytherapy for the treatment of subfoveal choroidal neovascularization secondary to age-related macular degeneration.

Purpose: To describe a case of radiation maculopathy after a 24-Gy single-fraction epimacular brachytherapy delivered concomitantly with ranibizumab for the treatment of age-related macular degeneration.

Methods: Case report.

Results: An 82-year-old man with neovascular age-related macular degeneration was treated with epiretinal brachytherapy and 2 intraocular injections of ranibizumab with initial good response.

En face optical coherence tomography of inner retinal defects after internal limiting membrane peeling for idiopathic macular hole.

Purpose: To describe the appearance of inner retinal defects using en face spectral domain optical coherence tomography (SD-OCT) after idiopathic full-thickness macular hole (FTMH) surgery, referred to as concentric macular dark spots (CMDS).

Methods: In a retrospective cohort study, the authors evaluated 36 eyes of 36 patients with large idiopathic MH (>400 μm) who underwent standard three-port pars plana vitrectomy with internal limiting membrane (ILM) peeling. All patients were analyzed using B-scan and C-scan en face SD-OCT before and after surgery to determinate the OCT pattern of the retinal surface.

Orbital cellulitis and endogenous endophthalmitis secondary to Proteus mirabilis cholecystitis.

We report the first case of orbital cellulitis and endogenous endophthalmitis secondary to Proteus mirabilis bacteremia that resulted from a calculus cholecystitis. Despite resolution of the gallbladder infection with antimicrobial therapy, the patient required evisceration of the affected eye. The pathogenesis of hematogenous endophthalmitis due to Gram-negative bacilli is discussed.