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Background: Open globe injuries (OGIs) are a leading cause of monocular blindness worldwide and require prompt intervention to prevent proliferative vitreoretinopathy (PVR) and endophthalmitis when serious intraocular damage occurs. The management of OGIs involves initial wound closure within 24 hours, followed by vitrectomy as a secondary surgery. However, there is a lack of consensus regarding the optimal timing of vitrectomy for maximizing visual outcomes. This meta-analysis aimed to investigate whether early or delayed vitrectomy leads to better outcomes in patients with OGIs. Methods: This review was conducted based on PRISMA guidelines. The Medline, Embase, Scopus, Cochrane Central Register of Controlled Trials, and ClinicalTrials.gov databases were searched (October 23, 2023). Clinical studies that used vitrectomy to manage OGIs as early (within 7 days) or delayed (8-14 days) interventions were included. Randomized controlled trials (RCTs) and non-RCTs were appraised using the Cochrane risk of bias and JBI tools, respectively. Results: Eleven studies met the inclusion criteria and were included in the quantitative analyses. There were 235 patients with OGIs who received early intervention and 211 patients who received delayed intervention. The retina was reattached in 91% and 76% of the patients after early and delayed intervention, respectively. Traumatic PVR was present in 9% and 41% of the patients in the early and delayed groups, respectively. The odds of retinal reattachment after vitrectomy were greater in the early group (OR = 3.42, p = 0.010, 95% CI=1.34-8.72), and the odds of visual acuity ≥ 5/200 were 2.4 times greater in the early group. The incidence of PVR was significantly greater in the delayed surgery group (OR = 0.16, p < 0.0001; 95% CI=0.06-0.39), which also required more than one vitrectomy surgery. Conclusion: Early vitrectomy results in better postoperative visual acuity, a greater proportion of retinal reattachment, and a decreased incidence of PVR.
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Macular holes (MHs), including atraumatic idiopathic and refractory MHs, affect central vision acuity due to full-thickness defects in the retinal tissue. The existing controversy regarding the pathophysiology and management of MHs has significantly improved with the implementation of internal limiting membrane (ILM) surgical techniques and improved MH closure rates. Thus, to determine the effect of ILM techniques on large idiopathic and refractory MH management, the present study systematically reviewed 5910 original research articles extracted from online literature databases, including PubMed, Cochrane, Google Scholar, and Embase, following the PRISMA guidelines. The primary outcome measures were MH closure rate and postoperative visual acuity. A total of 23 randomized controlled trials (RCTs) with adequate patient information and information on the effect of ILM peeling, inverted ILM flaps, autologous retinal transplantation (ART), and ILM insertion techniques on large idiopathic and refractory MH patients were retrieved and analyzed using RevMan software (version 5.3) provided by the Cochrane Collaboration. Statistical risk of bias analysis was also conducted on the selected sources using RoB2, which showed a low risk of bias in the included studies. A meta-analysis indicated that the inverted ILM flap technique had a significantly greater MH closure rate for primary MH than the other treatment methods (OR = 3. 22, 95% CI 1.34-7.43; p = 0.01). Furthermore, the findings showed that the inverted ILM flap group had significantly better postoperative visual acuity than did the other treatment options for patients with idiopathic MH (WMD = - 0.13; 95% CI = 0.22-0.09; p = 0.0002). The ILM peeling technique had the second highest statistical significance for MH closure rates in patients with idiopathic MH (OR = 2. 72, 95% CI: 1.26-6.32; p = 0.016). In refractory MHs, autologous retinal transplant (ART) and multilayer ILM plug (MIP) techniques improve the closure rate and visual function; human amniotic membrane grafting (hAMG) provides a high degree of anatomical outcomes but disappointing visual results. This study demonstrated the reliability and effectiveness of ILM techniques in improving the functional and anatomical outcomes of large idiopathic and refractory MH surgery. These findings will help clinicians choose the appropriate treatment technique for patients with idiopathic and refractory MH.
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BACKGROUND: Rhegmatogenous retinal detachment (RRD) is a serious condition that occurs when the retina detaches from its underlying retinal pigment epithelium. RRDs associated with giant retinal tears (GRTs) are caused by retinal tears at least 90° or one-quarter of the circumferential extent. This scoping review systematically identifies and summarizes clinical studies evaluating surgical techniques for the management of GRT-related RRDs, discusses functional and visual outcomes and the risk factors affecting treatment outcomes. METHODS: This study was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. PubMed, Scopus, Google Scholar, and Springer Link databases were searched for relevant papers (from January 2001 to March 2023). Studies that were published in the English language and reported the risk factors, management, and treatment outcomes of GRT-related RRDs were included in the review. The outcome measures included anatomic success rates, changes in BCVA (logMAR) from baseline to the final follow-up, and adverse events. RESULTS: A total of 11,982 articles were identified. After the title and abstract review, 71 studies were deemed eligible for full-text review. Thirty-six studies that met the eligibility criteria were included in the final review. Four surgical techniques were identified: pars plana vitrectomy (PPV), combined PPV and scleral buckling, scleral buckling alone, and pneumatic retinopexy. Various types of tamponades, including gas, silicone oil, and air, have been used. PPV was the most commonly used surgical technique in 33.1-100% of patients. Among the 20 studies that used PPV alone, 17 were associated with preoperative PVR. In addition, scleral buckling alone or in combination with PPV was reported as a treatment option in 10 studies, with 2-100% of patients experiencing scleral buckling alone and 13.6-100% experiencing combined PPV and complementary scleral buckling. Primary anatomic success (PAS) was achieved with retinal reattachment via a single operation with no residual tamponade, whereas final anatomic success (FAS) was achieved via more than one operation with no residual tamponade. Reported single surgery anatomic success (SSAS) rates range from 65.51 to 100%. The preoperative best-corrected visual acuity (BCVA) ranged from 0.067 to 2.47 logMAR, whereas the postoperative BCVA ranged from 0.08 to 2.3 logMAR. An improvement in visual acuity was observed in 29 studies. Cataracts (3.9-28.3%) were the most common postoperative complication, followed by high IOP (0.01-51.2%) and PVR (0.8-31.57%). CONCLUSION: PPV is the most common surgical technique, and currently microincision vitrectomy surgery (MIVS) systems are commonly employed. Silicone oil is the most frequently used tamponade in RRD repair. Risk factors for GRT-related RRD include age, sex, lens status, high myopia status, proliferative vitreoretinopathy (PVR), presenting visual acuity, the extent of the GRT and retinal detachment, and macular involvement. Future research areas include guidelines to reduce variability in the reporting of surgical methodology, choice of tamponades, and reporting of functional and visual outcomes to inform the best therapeutic interventions in GRT-related RRD.
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BACKGROUND: Myopic traction maculopathy (MTM) is a complication of pathological myopia and encompasses various pathological conditions caused by tractional changes in the eye. These changes include retinoschisis, foveal retinal detachment, and lamellar or full-thickness macular holes (FTMHs). This meta-analysis evaluated the safety and efficacy of novel surgical for treating MTM. METHODS: To compare the outcomes of different surgical approaches for MTM, multiple databases, including Web of Science, PubMed, Scopus, ClinicalTrials.gov, the Cochrane Central Register of Controlled Trials, Ovid MEDLINE, Embase, and the Meta-Register of Controlled Trials, were comprehensively searched. The meta-analysis was performed using RevMan 5.1. RESULTS: Nine comparative studies involving 350 eyes were included in this meta-analysis. There were significant differences between fovea-sparing internal limiting membrane peeling (FSIP) and standard internal limiting membrane peeling (ILMP). Preoperative best-corrected visual acuity BCVA (standard mean difference (SMD): -0.10, 95% CI: -0.32 to 0.12) and central foveal thickness CFT (SMD: 0.05, 95% CI: -0.22 to 0.33) were not significantly different (p = 0.39 and p = 0.71, respectively). However, the postoperative BCVA improved significantly (SMD = - 0.47, 95% CI: - 0.80, - 0.14, p = 0.006) in the FSIP group compared to the standard ILMP group. Postoperative CFT did not differ significantly between the two groups (p = 0.62). The FSIP group had a greater anatomical success rate than the other groups, although the difference was not statistically significant (p = 0.26). The incidence of postoperative macular hole formation was significantly lower (OR = 0.19, 95% CI = 0.07-0.54; p = 0.05) in the FSIP group than in the standard ILMP group. The unique characteristics of highly myopic eyes, such as increased axial length and structural changes, may have contributed to the greater incidence of FTMH in the ILMP group. CONCLUSION: Based on the findings of this meta-analysis, FSIP is the initial surgical approach for early-stage MTM and has shown promising outcomes. However, to establish the safest and most efficient surgical technique for treating different MTM stages, further comparative studies, specifically those focusing on ILMP and FSIP, are necessary. TRIAL REGISTRATION: Retrospectively registered.
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Degeneración Macular , Miopía Degenerativa , Desprendimiento de Retina , Perforaciones de la Retina , Humanos , Fóvea Central , Miopía Degenerativa/complicaciones , Miopía Degenerativa/cirugía , Perforaciones de la Retina/cirugíaRESUMEN
BACKGROUND: The choroidal vasculature supplies the outer retina and is altered in many retinal diseases, including myopic traction maculopathy (MTM). Choroid health is typically assessed by measuring the choroidal thickness; however, this method has substantial limitations. The choroidal vascularity index (CVI) was recently introduced to provide quantitative information on the vascular flow in the choroid. This index has been evaluated in a wide range of diseases but has not been extensively used to characterize MTM. AIM: This study aimed to investigate the CVI across different stages of MTM and the influence of macular surgery on choroidal perfusion markers in different surgically resolved MTM stages. METHODS: Eighteen healthy myopic eyes in the control group and forty-six MTM eyes in the surgical group were evaluated using enhanced optical coherence tomography (OCT) imaging. Binarized OCT images were processed to obtain the luminal choroidal area (LCA) and stromal choroidal area (SCA), which were used to calculate CVI in the form of a percentage ratio. CVI data were collected at baseline, one and four months postoperatively, and at the final clinical visit. MTM eyes were divided into four stages based on disease severity. The choriocapillaris flow area (CFA) and central subfield thickness (CSFT) were measured along side the CVI. RESULTS: No significant differences were observed between the two groups at baseline, except for visual acuity (p < 0.0001). Surgery significantly improved vision at all postoperative time points (p < 0.0001). At baseline, there were no significant differences in CVI, CFA, or CSFT scores between the control and surgical groups. However, all three measurements were lower at the final visit in the surgical group (p ≤0.0001). No significant differences were found in any of the parameters among the four stages of MTM (p > 0.05). Ultimately, correlation and multivariate linear regression analyses did not reveal any significant association between CVI and visual acuity. CONCLUSIONS: This study did not find significant preoperative differences in CVI between healthy myopic eyes and eyes with MTM. However, the postoperative CVI and CFA values were significantly lower than those of the control eyes. Thus, CVI may not be a good biomarker for surgical outcomes, as the correlation between CVI and visual acuity was not statistically significant.The CVI and CFA decreased after surgery, providing evidence of choroidal changes after surgical management.
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Degeneración Macular , Miopía , Humanos , Vitrectomía/métodos , Tracción , Coroides/irrigación sanguínea , Tomografía de Coherencia Óptica/métodos , Perfusión , Estudios RetrospectivosRESUMEN
BACKGROUND: The epiretinal membrane (ERM) is a nonvascular fibrocellular tissue formed by cellular metaplasia and proliferation at the vitreoretinal surface and is generally treated by pars plana vitrectomy (PPV) with or without internal limiting membrane (ILM) peeling. This network meta-analysis aimed to compare the efficacy of all available ERM removal interventions and assessed the use and efficacy of surgical dyes in managing idiopathic ERMs. METHODS: MEDLINE, EMBASE, Cochrane CENTRAL, and the US National Library of Medicine were searched (June 28, 2023). Clinical studies that included patients with ERMs were included. Randomized controlled trials (RCTs) were also appraised using Cochrane risk of bias (ROB). RESULTS: Ten RCTs and ten non-RCTs were included in this study. A pairwise meta-analysis between ERM removal and combined ERM and ILM removal showed no significant difference in visual outcome (change in BCVA) 1 year postintervention (MD = - 0.0034, SE = 0.16, p = 0.832). Similarly, there was no significant difference in the central macular thickness postoperatively between the two groups (MD = - 4.95, SE = 11.11, p = 0.656) (Q = 4.85, df = 3, p = 0.182, I2 = 41.21%). The difference in ERM recurrence between the groups was also not statistically significant (OR = 4.64, p = 0.062, I2 = 0). In a network meta-analysis, there was no significant difference in visual outcomes between ERM removal only and other treatment modalities: combined ILM and ERM removal (MD = 0.039, p = 0.837) or watchful waiting (MD = 0.020, p = 0.550). In a network meta-analysis, there was no significant difference in the visual outcomes between ERM removal alone and dye-stained combined ERM and ILM peeling (MD = 0.122, p = 0.742 for brilliant blue G; BBG and MD = 0.00, p = 1.00 for membrane blue-dual; MBD). The probability of being a better surgical dye for better visual outcomes was 0.539 for the MBD group and 0.396 for the BBG group. The recurrence of ERM was not significantly different when the ILM was stained with any of the dyes. No study was judged on ROB assessment as having low ROB in all seven domains. CONCLUSION: The two types of surgical modalities provided comparable efficacy, with no significant differences between the outcomes. Among the dye-assisted ILM peeling methods, the membrane blue-dual dye was the most effective in providing better structural and functional outcomes.
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PURPOSE: Choroidal vascularity index (CVI) and choriocapillaris flow area (CFA) are perfusion biomarkers relevant to retinal disease management. There is limited knowledge regarding these biomarkers in eyes that have been successfully treated for rhegmatogenous retinal detachment (RRD) due to giant retinal tears (GRTs). This study aimed to analyze the relationship between choroidal perfusion biomarkers and functional outcomes in surgically treated eyes with GRT-associated RRD and their fellow eyes. METHODS: A total of 33 GRT eyes and 29 fellow eyes were included in this study. All RRD-GRT eyes were treated with vitrectomy and categorized into two groups based on whether additional scleral buckles (SB) were placed. Visual and choroidal features were compared between the groups. RESULTS: The subjects had an average age of 55.18 years, a mean time of 2.36 weeks before surgery, and a mean follow-up time of 25.9 months. Best-corrected visual acuity (BCVA) was substantially worse in GRT eyes (1.9 logMAR) than in fellow control eyes (0.23 logMAR) but substantially improved after surgery (0.59 logMAR). There were no differences in the presurgical characteristics and BCVA between the eyes that did and did not undergo SB. Long-term CVI and CFA were lower in eyes with GRT than in their fellow eyes. Among eyes with GRT, those with SB had significantly lower CVI and CFA. Correlation analysis revealed that the CVI and CFA were positively correlated with visual outcomes (negative correlation with logMAR). CONCLUSION: Despite successful surgical repair, long-term functional and choroidal evaluations showed permanent changes in eyes with GRT. Positive correlations between perfusion biomarkers and visual function suggest that better choroidal vasculature is associated with better visual outcomes. The results of this study highlight the benefits of analyzing choroidal vasculature biomarkers and the relationship between the choroidal anatomy and vision.
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This review aimed to systematically compare the efficacy and safety of intravitreal aflibercept (IVA) and vitrectomy for treating severe vitreous hemorrhage (VH) secondary to proliferative diabetic retinopathy (PDR). The review was conducted in accordance with PRISMA guidelines. A search strategy, including the MEDLINE, Embase, Cochrane Central Register of Controlled Trials, and US National Library of Medicine databases, was developed to identify randomized controlled trials (RCTs) that compared vitrectomy and IVA for managing VH due to PDR (participant age ≥ 18 years). The primary outcome measure was the difference in the mean visual acuity between the two treatment groups at 1, 6, and 24 months. Outcome measures included clearance of VH (in weeks), the incidence of recurrent VH, and the rate of complications. The studies were evaluated using the Cochrane Bias (ROB) tool. We identified 774 articles; six articles met the inclusion criteria, and two were ultimately included (n = 239 eyes). With or without PRP, IVA injections and vitrectomy were performed in 117 and 122 eyes, respectively. The mean BCVA at one month was significantly better in the vitrectomy group (MD=0.22, CI:0.10-0.34, p=0.0003), but no difference was found at six months (MD=0.04, CI: -0.04-0.12, p=0.356). The incidence of recurrent VH was significantly higher in the IVA group (OR=5.05, CI:2.71-9.42, p<0.0001). The probability of recurrent VH was five times greater in the IVA group than that in the vitrectomy group. There were no significant differences in the overall proportions of intra- or postoperative complications (OR=0.64, CI: 0.09-4.85, p=0.669). None of the studies had a low ROB in any of the seven domains. We conclude that IVA can be considered a viable treatment modality for diabetic VH in patients with a good follow-up. Vitrectomy initially provides better visual effect, faster VH recovery, and lower VH recurrence than IVA injections.
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BACKGROUND: We conducted a systematic review to compare the effects of pneumatic vitreolysis (PV), enzymatic vitreolysis (EVL) with ocriplasmin, and pars plana vitrectomy (PPV) on vitreomacular traction (VMT) syndrome and macular holes (MHs) to assess their efficacy as treatment options. METHODS: Databases, including PubMed, ClinicalTrials.gov ( www. CLINICALTRIALS: gov ), the Cochrane Central Register of Controlled Trials (CENTRAL)-including the Cochrane Eyes and Vision Group Trials Register (The Cochrane Library 2013, Issue 2)-, Ovid MEDLINE, and EMBASE (January 2000-October 2022), were searched to identify studies comparing the outcomes of PV versus PPV, PPV versus ocriplasmin and ocriplasmin versus PV. RevMan 5.1 was used for the meta-analysis of the studies. RESULTS: Among the 89 studies, 79 were considered eligible for qualitative analysis, and 10 quantitative studies were subjected to meta-analysis. PPV resulted in better postoperative visual acuity improvement than ocriplasmin (standardized mean deviation (SMD) = 0.38, 95% CI 0.03-0.73, p = 0.0003). PV resulted in no significant difference in visual improvement compared with PPV (SMD = - 0.15, 95% CI - 0.47 to 0.16, p = 0.35). PPV was significantly more effective in terms of the VMT release rate (risk ratio = 0.48, 95% CI 0.38-0.62, p = 0.00001) and MH closure rate (risk ratio = 0.49, 95% CI 0.30-0.81, p = 0.006) than ocriplasmin. PV was more effective than ocriplasmin in terms of the VMT release rate (risk ratio = 0.49, 95% CI 0.35-0.70, p = 0.0001). Qualitative analysis showed MH closure rates of 46%, 47.8%, and 95% and VMT releases rates of 46%, 68% and 100% after ocriplasmin, PV, and PPV treatments, respectively. Adverse events and postoperative complications occurring after treatment have also been documented in these studies. CONCLUSION: PPV appears to be the most promising option for MH closure and VMT release, with fewer serious complications than EVL or PV. However, given the limited number of studies comparing these treatments, further research is needed to establish the superiority of PPV over the other options.
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BACKGROUND: Rhegmatogenous retinal detachment (RRD) is a vision-threatening condition that can be treated with various surgical approaches. The role of scleral buckling remains controversial because of its potential long-term deleterious effects on choroidal vascular perfusion and the limited knowledge of this entity. METHODS: A total of 135 eyes were retrospectively selected, including 115 with surgically resolved RRD and 20 healthy control eyes. Of the surgically treated eyes, 64 underwent vitrectomy alone, while 51 underwent scleral buckling combined with vitrectomy. Best-corrected visual acuity (BCVA) was evaluated along with the choroidal vascularity index (CVI) as a metric for the state of the choroidal vasculature. BCVA was compared before and after surgery, and the postoperative BCVA was analyzed with the CVI using correlation and multivariate regression analyses. RESULTS: The preoperative BCVA of the RRD eyes was significantly worse than that of the control eyes, and significantly improved after surgery. However, the long-term postsurgical BCVA was still inferior to that of the control eyes. No significant differences in visual function were found between the two surgical groups. The average CVI was 57.35% in the control eyes, 63.76% in the eyes that underwent vitrectomy, and 53.37% in buckled eyes. The differences in CVI were significant among the three groups. Among the surgical patients, negative Pearson's correlations were found between CVI and postoperative BCVA (expressed in logMAR). A multivariate linear regression model containing four parameters revealed that CVI was the only variable with a significant influence on postoperative BCVA, while the length of time with a detached macula did not have an effect. CONCLUSIONS: RRD surgery drastically restored vision, but the effect of RRD lingered, as postsurgical visual acuity remained inferior to that of the control eyes. The CVI varied between the treatment groups, likely due to both disease pathology and the impact of the surgery. The correlation between CVI and BCVA indicates the important role that the choroidal vasculature plays in visual function.
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OBJECTIVE: To compare the incidence and onset time of epiretinal membranes after two surgical techniques to treat retinal detachment (retinopexy). METHOD: Non-experimental, retrospective, longitudinal and comparative study in patients treated of primary rhegmatogenous retinal detachment either with cryotherapy and scleral buckle (group 1) or vitrectomy techniques (group 2), without an epiretinal membrane at the moment of surgery. We compared the incidence of postoperative epiretinal membrane between groups, the median onset time (Mann-Whitney's U) and the proportions of eyes without an epiretinal membrane along time with a survival analysis (log-rank). RESULTS: 112 eyes in group 1, 48 in group 2; the incidence of epiretinal membrane was 23.2% in group 1 and 20.8% in group 2 (p = 0.8). The median time of onset was 12 weeks in group 1 (interquartile rank 8.75-16) and 18 in group 2 (12.5-22, p = 0.02). The log-rank test showed no differences of incidence along the follow-up between groups (p = 0.6). CONCLUSIONS: Epiretinal membranes appear early after retinopexy, before in eyes treated with crio-retinopexy. Although their incidence does not differ between groups, detecting them could start two months after a scleral buckle and three after a vitrectomy procedure.
OBJETIVO: Comparar la incidencia y el tiempo en que aparecen las membranas epirretinianas después de dos técnicas quirúrgicas para tratar el desprendimiento de retina (retinopexia). MÉTODO: Estudio observacional, retrospectivo, longitudinal y comparativo en pacientes operados por desprendimiento regmatógeno primario de retina sin una membrana epirretiniana al momento de la cirugía, divididos en grupos: operados mediante criorretinopexia/cerclaje escleral (grupo 1) o vitrectomía (grupo 2). Se compararon entre grupos la incidencia de membrana epirretiniana, la mediana del tiempo de aparición (U de Mann-Whitney) y las proporciones de ojos sin membrana epirretiniana temporalmente mediante un análisis de sobrevida (log-rank). RESULTADOS: En 112 ojos en el grupo 1 y 48 ojos en el grupo 2, la incidencia de membrana epirretiniana fue del 23.2% en el grupo 1 y del 20.8% en el grupo 2 (p = 0.8). La mediana del tiempo de aparición fue de 12 semanas en el grupo 1 (rango intercuartílico [RIC]: 8.75-16) y de 18 semanas en el grupo 2 (RIC: 12.5-22; p = 0.02). La prueba de log-rank no mostró diferencias en la incidencia durante el seguimiento (p = 0.6). CONCLUSIONES: Las membranas epirretinianas se presentan tempranamente después de una retinopexia, antes en ojos operados mediante criorretinopexia. De acuerdo con la incidencia observada, su búsqueda podría empezar 2 meses después de un cerclaje y 3 meses después de una vitrectomía.
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Membrana Epirretinal , Desprendimiento de Retina , Membrana Epirretinal/diagnóstico , Membrana Epirretinal/epidemiología , Membrana Epirretinal/cirugía , Humanos , Incidencia , Desprendimiento de Retina/epidemiología , Desprendimiento de Retina/etiología , Desprendimiento de Retina/cirugía , Estudios Retrospectivos , Curvatura de la Esclerótica/efectos adversos , Curvatura de la Esclerótica/métodos , Resultado del Tratamiento , Vitrectomía/efectos adversos , Vitrectomía/métodosRESUMEN
PURPOSE: To report a new familial case of the recently described autosomal recessive syndrome of nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen, which arises from compound heterozygosity for Membrane Frizzled-Related Protein (MFRP) mutations in a sibling pair of Mexican origin. METHODS: Ophthalmological assessment included slit-lamp and dilated fundus examination, applanation tonometry, fundus photography, A-mode and B-mode ultrasound examination, electroretinogram, fluorescein retinal angiography, optical coherence tomography, and electrooculogram in both affected siblings. Molecular genetic analysis consisted of PCR amplification and direct automated sequence of the complete coding region of the MFRP gene. In addition, allele-specific cloning and sequencing techniques were used to characterize a heterozygous MFRP frameshift mutation. RESULTS: Clinical examination revealed high hyperopia of > +16 diopters while electroretinographic and fluorangiographic studies demonstrated a retinal dystrophy compatible with retinitis pigmentosa. Ultrasound examination showed nanophthalmos (eye axial length <15 mm) and optic disc drusen while optical coherence tomography evidenced cystoid macular edema. Nucleotide sequencing in DNA from both affected siblings disclosed the presence of two MFRP mutations: a novel heterozygous point mutation predicting a nonsense change from tyrosine (TAC) to a stop signal (TAA) at codon 317, and a heterozygous 1 bp deletion in exon 5, predicting a prematurely truncated protein (p.Asn167ThrfsX25). DISCUSSION: The third known family with the syndrome of nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen is presented. This is the first demonstration of compound heterozygosity for MFRP mutations as the source of the disease. The affected siblings described here are the youngest patients with the disease reported to date and the comparison of their clinical data with previous individuals with this syndrome suggest that some aspects of the phenotype are probably age-dependent.