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. The multimodal imaging tests yielded abnormal foveal SD-OCT patterns, with a fibrous sealed tear in the retinal pigment epithelium. Campimetry showed low levels of retinal sensitivity; microperimetry and mfERG revealed a subnormal retinal response and a reduction in the N1 and P1 wave amplitudes. The visual evoked potential responses were normal. Multidisciplinary examination at 6 months postoperatively revealed a structurally and functionally abnormal macula. The retina remained attached. Our functional findings indicate that submacular hemorrhage should be treated in a timely manner to minimize photoreceptor damage.

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. Comparison of features associated with successful outcomes was analyzed using Chi-squared tests, logistic regression and univariate generalized equation models. RESULTS: We measured proportion of patients with BCVA ≤ 1.0 logMAR and/or an increase in final BCVA of 0.3 logMAR with respect to baseline and complete reattachment at final visit; 104 eyes (62%) achieved total reattachment, and 91 eyes (54%) achieved visual success. Absence of macular involvement, subtotal RRD and older age group (13-18) were associated with both success measures. There were higher visual and anatomic success rates with primary scleral buckling (SB, 66% and 79%; OR 9.26 and 11.09) and combined SB plus pars plana vitrectomy (PPV, 54% and 58%; OR 5.67 and 3.94) compared with PPV alone (26% and 17%). CONCLUSION: A majority of patients achieved anatomical success with repair. Trauma and myopia were the most common etiologic associations, with myopic cases having better outcomes. Success was more likely in patients with subtotal RRD or uninvolved macula at presentation; previous intraocular surgery was a risk factor for failure. Younger patients had a higher likelihood of worse outcomes. Initial PPV showed a lower rate of success than either SB or combined SB/PPV.

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. Fluorescein angiography showed normal choroidal filling and an important delay of dye transit through the retinal circulation. Carotid Doppler echography showed a small endothelial atherosclerotic plaque without hemodynamic repercussion. A detailed history and further examination revealed no other systemic diseases except for moderate hypercholesterolemia. The patient was referred for management of her hypertension but otherwise did not undergo specific therapy for CRAO because of the delayed presentation. Four weeks after the initial visual loss, the patient showed resolution of the retinal findings and a surprising improvement to 20/50 visual acuity. CONCLUSION: This case highlights a rare subtype of central retinal artery occlusion. In this disease, partial occlusion reveals atypical signs including large cotton-wool spots as the predominant finding, making the initial diagnosis difficult. Visual recovery may be significant in partial CRAO, even without treatment.

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. Here, we investigated the prevalence and ICGA and optical coherence tomography (OCT) features of retinal microvascular abnormalities in a group of patients with DME. METHODS: Observational study. The fundus photographs, ICGA and structural and angiographic OCT charts of 35 eyes from 25 consecutive patients with DME were reviewed. RESULTS: 22 eyes (63%) had at least one focal area of microvascular abnormalities showing prolonged indocyanine green (ICG) staining (ie, beyond 10 mins after injection). In particular, all eyes (n=9) with circinate hard exudates showed foci of late ICG staining. These areas were either isolated globular capillary ecstasies or a cluster of ill-defined capillary abnormalities. They were located at a median distance of 2708 µm from the fovea (range: 1064-4583 µm). Their diameter ranged from 153 to 307 µm. During ICGA, 91% showed increased their contrast and apparent size in late frames, whereas 79% of microaneurysms showed reduced contrast on late frames. OCT angiography was not contributive for the detection of these lesions. CONCLUSION: Late ICG staining revealing large microvascular abnormalities is commonly observed during DME. Because of their specific angiographic and OCT features relative to microaneurysms, we propose to name them telangiectatic capillaries (TelCaps).

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. Here, we present the results of genetic analysis in a large cohort of 143 unrelated Mexican subjects with a variety of RDs. METHODS: A targeted NGS approach covering 199 RD genes was employed for molecular screening of 143 unrelated patients. In addition to probands, 258 relatives were genotyped by Sanger sequencing for familial segregation of pathogenic variants. RESULTS: A solving rate of 66% (95/143) was achieved, with evidence of extensive loci (44 genes) and allelic (110 pathogenic variants) heterogeneity. Forty-eight percent of the identified pathogenic variants were novel while ABCA4, CRB1, USH2A, and RPE65 carried the greatest number of alterations. Novel deleterious variants in IDH3B and ARL6 were identified, supporting their involvement in RD. Familial segregation of causal variants allowed the recognition of 124 autosomal or X-linked carriers. CONCLUSION: Our results illustrate the utility of NGS for genetic diagnosis of RDs of different populations for a better knowledge of the mutational landscape associated with the disease.

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. All eyes underwent a baseline examination including best-corrected visual acuity, color photos, optical coherence tomography, and fluorescein angiography. Data were collected on intraoperative bleeding, total surgical time, early (<1 month) postoperative vitreous hemorrhage, and mean change in best-corrected visual acuity at 12 months. P < .05 was considered statistically significant. RESULTS: A total of 214 patients (214 eyes) were randomized in a 1:1 ratio to PPV plus IVB ([study group] 102 eyes) or PPV plus sham ([control] 112 eyes). Iatrogenic retinal breaks were noted intraoperatively in 35 eyes (34.3%) in the study group, and 66 eyes (58.9%) in the control group (P = .001). Grade 2 intraoperative bleeding was noted in 32 (31.3%) eyes in the study group and 58 (51.7 %) eyes in the control group (P = .001). Endodiathermy was necessary in 28 (27.4 %) eyes in the study group, compared with 75 (66.9%) eyes in the control group (P = .0001). Mean surgical time was 71.3 ± 32.1 minutes in the study group and 83.6 ± 38.7 minutes in the control group (P = .061). CONCLUSION: Preoperative IVB seems to reduce intraoperative bleeding, improving surgical field visualization, and reducing intraoperative and postoperative complications. NOTE: Publication of this article is sponsored by the American Ophthalmological Society.

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., CARMS (Clinical Age-Related Maculopathy Staging System) grade 4 or 5. The frequency of these variants was also investigated in a group of 152 control subjects without AMD. Genomic DNA was extracted from blood leukocytes, and genotyping was performed using PCR followed by direct sequencing. Allele-specific restriction enzyme digestion was used to detect the R102G polymorphism in C3. RESULTS: There were significant differences in the allelic distribution between the two groups for CFH Y402H (p=1×10(-5)), ARMS A69S (p=4×10(-7)), and CFB R32Q (p=0.01). The odds ratios (95% confidence interval) obtained for the risk alleles of these three variants were 3.8 (2.4-5.9), 3.04 (2.2-4.3), and 2.5 (1.1-5.7), respectively. Haplotype analysis including the two most significantly associated alleles (CFH Y402H and ARMS A69S) indicated that the C-T combination conferred an odds ratio (95% confidence interval) of 6.9 (3.2-14.8). The exposed attributable risk for this particular haplotype was 85.5%. CONCLUSIONS: This is the first case-control investigation of AMD-high risk alleles in a Latino population. Our results support that CFH, ARMS2, and CFB AMD-risk alleles are consistently associated with the disease, even in ethnic groups with a complex admixture of ancestral populations such as Mexican mestizos.

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. Exclusion of secondary causes of serous retinal detachment (SRD) is warranted. We describe the atypical case of a 12-year-old female with a circumscribed SRD that resolved spontaneously and with fluorescein angiography (FA) findings that were compatible with idiopathic CSC. Optical coherence tomography (OCT) and systemic assessment were performed to exclude other etiologies. FA demonstrated multiple focal leaks in early phases, with subretinal leakage and pooling in late phases. OCT showed a localized circumscribed retinal detachment. Complete blood count was within normal limits. Serum cortisol was normal (22.1 µg/dl) and mean arterial blood pressure was 100/60 mm Hg, thereby excluding secondary causes of CSC. This is the second reported case of idiopathic CSC in a prepubertal female and the first one documented by FA and OCT, as well as other studies to exclude secondary causes. Albeit rare, idiopathic CSC should be considered in the differential diagnosis of SRD in this (prepubertal) age group, after excluding secondary ocular or systemic etiologies.

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. Cases of PPV performed in the management of trauma, endophthalmitis, and combined PPV phacoemulsification cases were excluded. Endophthalmitis was diagnosed by clinical criteria regardless of the microbiologic results. The incidence of post-PPV endophthalmitis was compared between 20-, 23-, and 25-gauge PPVs. RESULTS: A total of 35,427 cases of PPV were identified during the study period (n = 19,865 for 20 gauge, n = 10,845 for 23 gauge, and n = 4,717 for 25 gauge). The 5-year post-PPV endophthalmitis incidence rates were 0.020% (4 of 19,865), 0.028% (3 of 10,845), and 0.021% (1 of 4,717) for 20 gauge, 23 gauge, and 25 gauge, respectively (P = 0.9685). CONCLUSION: Small-gauge transconjunctival PPV does not appear to increase the rates of post-PPV endophthalmitis.

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. However, the genetic characterization of patients from distinct ethnic groups will help to define the relative contribution of particular AD RP-related genes. In the present study, a search for causal mutations in RHO and peripherin/RDS in a group of 28 Mexican RP probands with AD inheritance was performed. METHODS: Methods included complete ophthalmologic examination as well as fluorangiographic and electroretinographic assessment. Molecular analysis included Polymerase (PCR) amplification and direct nucleotide sequencing of the coding exons of RHO and peripherin/RDS in DNA from affected subjects. Mutation-carrying exons were analyzed in a total of 29 first-degree relatives from some of these families. RESULTS: Five RHO mutations, including two novel ones and three previously reported, were demonstrated in this RP sample. Novel mutations were c.365A>G in exon 2 (Glu122Gly), and c.233A> in exon 1 (Asn78Ile). The other three RHO mutations were Phe45Leu, Arg135Trp, and Ser186Trp. No peripherin/RDS gene mutations were demonstrated in the remaining 23 probands. CONCLUSION: Our study adds to the mutational spectrum of adRP by identifying two novel RHO mutations. RHO mutations were responsible of 17% of AD RP Mexican cases, a figure slightly lower to that found in other ethnic groups. Peripherin/RDS mutations are apparently an uncommon cause of AD RP in this population.

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, 5.5 lines), 35.8% had worse BCVA (mean, 6.4 lines), and 32% had BCVA that remained the same after RON. In the nonischemic CRVO group (n = 20), 50% of eyes had an improvement in BCVA (mean, 6.5 lines), 15% had worse BCVA (mean, 4.3 lines), and 35% had BCVA that remained the same after RON. Complications occurred in 71.2% of cases, including cataract in 17 eyes (23.2%), vitreous hemorrhage in 16 eyes (20.5%), persistent macular edema in 15 eyes (20.5%), neovascular glaucoma in 7 eyes (9.5%), anterior segment neovascularization in 5 eyes (6.8%), retinal detachment in 3 eyes (4.1%), and phthisis bulbi, choroidovitreal neovascularization, central retinal artery perforation, and optic nerve atrophy in 1 eye (1.3%) each. CONCLUSIONS: RON may improve visual acuity in some eyes with CRVO, but complications are common. In our series, surgery by itself did not seem to improve the outcome of CRVO when compared with its natural history.

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. RESULTS: A late-stage retinal dystrophy was established in the patient. No retinal or corneal crystalline deposits were evident during clinical evaluation. Retrospective analysis of fundus imaging disclosed the presence of retinal crystalline deposits, suggesting the diagnosis of Bietti's crystalline corneoretinal dystrophy. Molecular analysis of the CYP4V2 gene revealed the presence of a novel C to T mutation at nucleotide position 974 (exon 7), predicting a threonine to isoleucine replacement at amino acid position 325. Corneal deposits were not seen by biomicroscopy, corneal OCT, or specular microscopy but were evidenced by means of the corneal rotating Scheimpflug imaging. CONCLUSION: Our results expand the allelic heterogeneity of Bietti's crystalline corneoretinal dystrophy. This is the first patient of Latin-American origin in which a molecular analysis of the disease has been performed. Our results suggest that the use of corneal rotating Scheimpflug imaging can evidence corneal deposits that are not apparent by other methods.

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. RESULTS: The most common OCT findings that help differentiate between stages in group 2A IPFT are 1) highly reflective dots in the inner retina that correspond with microvessels seen by FA in Stage 1 (5 eyes [62.5%]); 2) the presence of hyporeflective intraretinal spaces in the absence of retinal thickening and highly reflective dots in the retina in Stage 2 (9 [81.8%] and 10 eyes [90.9%], respectively); 3) in Stage 3, both outer and inner retina exhibit areas of similar high reflectivity. In addition, the retinal pigment epithelium (RPE)/choriocapillaris complex is thickened or disrupted as evidenced by an area of high reflectivity (13 eyes [81.2%]); 4) a highly reflective area nasal or temporal to the fovea in the inner or outer retinal layers in Stage 4 suggesting RPE proliferation and migration (13 eyes [100%]); and 5) a fusiform thickening and duplication of the highly reflective RPE/choriocapillaris complex corresponding to choroidal neovascularization in Stage 5 (4 eyes [100%]). Our OCT characteristics correlated well with biomicroscopic and FA findings for Stages 4 and 5. However, the hyporeflective spaces that are evident on OCT could not be seen clinically at the slit lamp or on FA. In addition, our OCT findings on eyes with group 2A IPFT Stage 3 have not, to our knowledge, been previously described. CONCLUSIONS: Optical coherence tomography findings in group 2A IPFT were characteristic for each stage and may be helpful in making the diagnosis as well as defining the anatomical staging proposed by Gass and Blodi. Optical coherence tomography complements biomicroscopic and FA findings in the evaluation of group 2A IPFT.

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. Ophthalmologic manifestations, fundus photographs, ultrasonographic (US) assessment, electroretinography (ERG), fluorescein retinal angiography (FA), Goldmann kinetic perimetry (GKP), and optical coherence tomography (OCT), as well as mutational status of MFRP and CHX10 genes in genomic DNA. RESULTS: In all affected siblings, ophthalmologic examination demonstrated normal horizontal corneal diameters and high hyperopia; funduscopy, ERG, and FA evidenced a progressive retinal dystrophy compatible with retinitis pigmentosa; A- and B-mode ultrasonography revealed decreased axial eye length and optic disc drusen; OCT showed localized macular retinoschisis. MFRP molecular analysis disclosed a one base pair insertion in exon 5 (c.498_499insC) in all affected individuals, a mutation that predicts a truncated protein (P165fsX198). Both parents were heterozygous for this mutation. CONCLUSIONS: A distinct autosomal recessive ophthalmic syndrome characterized by microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is described. We demonstrated that this clinical association is caused by a mutation in MFRP, a gene previously implicated in isolated nanophthalmos. Our data indicate that defects in MFRP could be responsible for syndromic forms of microphthalmos/retinal degeneration and that this gene is necessary for photoreceptor maintenance.

Abordaje quirúrgico del cristalino luxado a cavidad vítrea / Surgical technique for lens luxation to the vitreous cavity

El objetivo de este trabajo es revisar la técnica quirúrgica, resultados y complicaciones de la luxación del cristalino a cavidad vítrea. Es un estudio retrospectivo donde se analizan 29 pacientes sometidos a vitrectomía posterior por cristalino luxado. El 68.9 por ciento de los cristalinos luxados correspondió a complicaciones de facoemulsificación, el 20.68 por ciento a traumatismo y el 10.34 por ciento a síndrome de Marfan. En el 62.06 por ciento, la capacidad visual final después del procedimiento quirúrgico fue 20/200 o mejor. Las complicaciones transoperatorias incluyeron desgarros retinianos y hemorragia vítrea (10.34 por ciento), y las postoperatorias edema macular quístico (10.34 por ciento). Concluyendo se puede decir que el manejo actual del cristalino luxado debe realizarse con técnicas bimanuales de cirugía vitreorretiniana complementada, cuando esté indicado, con la manipulación cinética de la retina mediante el uso de líquidos perfluorocarbonados.

Enfermedad de Coats: resultados del tratamiento / Coats disease: three case reports

Objetivo: Evaluar la efectividad de los diferentes tipos de tratamiento descritos en casos de enfermedad de Coats en población infantil. Método: Se incluyeron de manera prospectiva a todos los pacientes con diagnóstico de enfermedad de Coats menores de 12 años de edad, entre 1994 y 1996. Fueron seleccionados para recibir algún tipo de tratamiento con base en la agudeza visual y severidad del caso: fotocoagulación (diodo), crioterapia, vitrectomía. Resultados: 7 pacientes, 6 masculinos (86 por ciento), con edad promedio de 6.2 años, con cuadro unilateral (100 por ciento), fueron incluidos: 2 recibieron fotocoagulación, 2 crioterapia y 1 vitrectomía. Dos pacientes formaron el grupo control. No hubo diferencia estadística (p>0.05) entre todos los grupos al compararlos entre el inicio y final del seguimiento, que tuvo un promedio de 14.7 meses. Conclusión: Aun con distintos tratamientos y cierta mejoría clínica, la agudeza visual no mejora cuando el polo posterior ha sido crónicamente afectado.