RESUMO
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. Thereafter, the patient remained in remission for over 15 years without any visual complaints until 2022. At that time, the patient sought medical attention due to a ten-day history of left eye visual impairment, leading to the discovery of peripheral neovascularization in both eyes and vitreous hemorrhage in the left eye during fundus examination. The WBC count at the time of presentation to the Emergency Department was 10,460/µl. The patient was treated with fluorescein angiography guided panretinal photocoagulation to the areas of ischemic retina. Subsequent follow-up after eight months demonstrated regression of neovascularization. Conclusions and Importance: Our findings highlight the occurrence of proliferative retinopathy in the context of CML, uniquely manifesting during remission. This case emphasizes the importance of ophthalmological assessments not only at the time of CML diagnosis but also during subsequent follow-ups, recognizing the potential for delayed presentation of ocular complications.
RESUMO
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.
RESUMO
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.
Assuntos
Descolamento Retiniano , Idoso , Criança , Humanos , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/cirurgia , Estudos Retrospectivos , Recurvamento da Esclera , Resultado do Tratamento , Acuidade Visual , VitrectomiaRESUMO
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.
RESUMO
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).
Assuntos
Capilares/patologia , Corantes/administração & dosagem , Retinopatia Diabética/diagnóstico , Verde de Indocianina/administração & dosagem , Edema Macular/diagnóstico , Telangiectasia Retiniana/diagnóstico , Vasos Retinianos/patologia , Idoso , Capilares/diagnóstico por imagem , Feminino , Angiofluoresceinografia , Humanos , Masculino , Pessoa de Meia-Idade , Vasos Retinianos/diagnóstico por imagem , Tomografia de Coerência Óptica , Acuidade VisualRESUMO
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.
Assuntos
Heterogeneidade Genética , Mutação , Distrofias Retinianas/genética , Fatores de Ribosilação do ADP/genética , Transportadores de Cassetes de Ligação de ATP/genética , Proteínas da Matriz Extracelular/genética , Proteínas do Olho/genética , Frequência do Gene , Genótipo , Humanos , Isocitrato Desidrogenase/genética , Proteínas de Membrana/genética , México , Proteínas do Tecido Nervoso/genética , Distrofias Retinianas/patologia , cis-trans-Isomerases/genéticaRESUMO
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.
Assuntos
Fator B do Complemento/genética , Fator H do Complemento/genética , Etnicidade , Degeneração Macular/etnologia , Degeneração Macular/genética , Proteínas/genética , Idoso , Idoso de 80 Anos ou mais , Alelos , Estudos de Casos e Controles , Complemento C2/genética , Complemento C3/genética , Feminino , Frequência do Gene , Haplótipos , Humanos , Masculino , México/epidemiologia , Análise de Sequência de DNARESUMO
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.
Assuntos
Bactérias/isolamento & purificação , Endoftalmite/microbiologia , Infecções Oculares Bacterianas/microbiologia , Microcirurgia/efeitos adversos , Complicações Pós-Operatórias , Vitrectomia/efeitos adversos , Adulto , Idoso de 80 Anos ou mais , Antibacterianos/administração & dosagem , Endoftalmite/tratamento farmacológico , Endoftalmite/fisiopatologia , Infecções Oculares Bacterianas/tratamento farmacológico , Infecções Oculares Bacterianas/fisiopatologia , Feminino , Humanos , Incidência , Injeções Intravítreas , Masculino , Pessoa de Meia-Idade , Organização Pan-Americana da Saúde , Estudos Retrospectivos , Acuidade Visual/fisiologia , Corpo Vítreo/microbiologia , Adulto JovemRESUMO
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.