scholarly journals Lamellar Hole-associated Epiretinal Proliferation in choroideremia: a case report

Author(s):  
Vittoria Murro ◽  
Dario Pasquale Mucciolo ◽  
Dario Giorgio ◽  
Tomaso Caporossi ◽  
Ilaria Passerini ◽  
...  

Abstract Background To report a clinical case of a patient affected with choroideremia (CHM) who underwent macular surgery for a macular hole (MH) with Lamellar Hole-associated Epiretinal Proliferation (LHEP). Case presentation We have described a 48-year-old male patient affected with CHM who developed MH with LHEP over a 7-year follow-up. The patient was referred to the Regional Center for Hereditary Retinal Degenerations of the Eye Clinic in Florence (Italy) in April 2012. The patient underwent vitrectomy and Inner Limiting Membrane (ILM) and LHEP peeling with fluid-air exchange. Ultra-structural examination of the excised epiretinal proliferation, carried out using electron microscopy, showed dense amorphous material, mainly composed of abundant clusters of fibrous collagens resembling compact fibrous long spacing collagen (FLSC), embedded in native vitreous collagen (NVC) and type IV collagen. No cells were detected in any of the specimens collected. At the 3rd-week postoperative follow-up the macular hole was closed. Conclusion Macular hole with LHEP can be detected in CHM patients; in our patient the macular hole showed tractional and degenerative features, with good anatomical results after macular surgery.

2016 ◽  
Vol 27 (1) ◽  
pp. 93-97 ◽  
Author(s):  
Libor Hejsek ◽  
Alexandr Stepanov ◽  
Jaroslava Dusova ◽  
Jan Marak ◽  
Jana Nekolova ◽  
...  

Purpose To evaluate the success of a mini-invasive technique for operation of idiopathic macular hole (IMH). Methods We retrospectively examined 29 patients (30 eyes) in whom 25-G pars plana vitrectomy (PPV), peeling of the inner limiting membrane (ILM), and application of air tamponade were performed. The group of the patients included 7 males and 22 females (76%), age range 57-79 years (median 70). The follow-up period was 3-47 months (median 17). Results Pars plana vitrectomy was indicated only in the stages of full-thickness macular hole. Prior to operation, 13 eyes (43%) were in stage 2, 15 eyes (50%) in stage 3, and 2 eyes (7%) in stage 4. The IMH healed in 28 eyes after operation. Persistence of IMH occurred in 2 eyes (7%). After subsequent reoperation with extension of the peeling zone of the ILM and gas tamponade (with 10% C3F8), these macular holes also healed (100%). Prior to carrying out PPV, best-corrected visual acuity (BCVA) ranged between 20/40 and 20/500 (median 20/125). At the end of the follow-up period, BCVA was improved to 20/40 (median). The change in the final BCVA compared to the initial visual acuity was statistically significant (p = 0.008; Wilcoxon). Conclusions The 25-G PPV with peeling of the ILM and air tamponade is an effective technique and presents no increased risks in comparison with routine procedures. The main benefit of the intervention is its good tolerance by the patient, particularly with respect to painfulness and postoperative irritation.


2019 ◽  
Author(s):  
Hui Qi ◽  
tao hong Yan ◽  
Yan Cheng ◽  
Ling Zuo

Abstract Background Terson’s syndrome with macular hole (MH) is rarely seen, and the mechanism of which is not clear. Here we report a case of Terson Syndrome with the inner limiting membrane (ILM) peeled off spontaneously associated with a rare finding: MH. Case presentation This report presents the case of a 36-year-old female patient with aneurysmal subarachnoid hemorrhage (SAH) and Terson syndrome in the right eye was admitted to our hospital with blurred vision in August 2018. Pas plana vitrectomy (PPV) was performed in the right eye, a hyaloid detachment and dyeing of the ILM with indocyanine green (ICG) was assisted. After removal of the vitreous hemorrhage (VH), a full-thickness MH was noted and we also noticed a particular aspect: the ILM was already peeled spontaneously. So we conducted gas tamponade, and face-down positioning after PPV. At two weeks follow-up, spectral domain optical coherence tomography (SD-OCT) confirmed that the MH had closed, while the thickness of nasal retina was 0.137 nm thicker than that in the temporal side. Her best corrected visual acuity (BCVA) was 0.15 in the right eye and 1.0 in the left eye. Conclusions MH is a rarely seen complication of Terson Syndrome. We conferred that the pathogenic mechanisms of this unusual MH may include stretching forces at the ILM-macular interface.


2021 ◽  
Vol 33 (1) ◽  
Author(s):  
Tarun Goyal ◽  
Souvik Paul ◽  
Sushovan Banerjee ◽  
Lakshmana Das

Abstract Purpose This article aims to evaluate patterns of chronic multiligament injuries and outcomes of treatment with single-stage reconstruction using autografts. Methods All patients with clinicoradiologically diagnosed multiligament knee injury (MKI) were included in this prospective observational study. As the time since injury was more than 6 weeks in all of the patients, they were categorized as having chronic MKI. Patients were assessed clinically for laxity, and the diagnosis was confirmed radiologically. Ipsilateral hamstring tendons were used for medial collateral ligament (MCL) or posterolateral corner reconstruction in a patient with Schenck knee dislocation (KD) type III. In these cases, the posterior cruciate ligament (PCL) and anterior cruciate ligament (ACL) were reconstructed by using the peroneus longus and contralateral hamstring tendons respectively. Ipsilateral hamstring tendons were used for ACL reconstruction and an ipsilateral peroneus longus tendon graft was used for reconstruction of the PCL in a KD type II injury. In two cases of KD type IV injury, the lateral laxity was only grade II and was managed conservatively; the rest of the ligaments were addressed like a KD type III injury. Outcome evaluation was done using a visual analogue scale (VAS) for pain, International Knee Documentation Committee (IKDC) score, Lysholm score, and Tegner activity level, preoperatively and postoperatively at 2 years’ follow-up. Results A total of 27 patients of mean age 33.48 ± 9.9 years with MKI were included in the study. The patients were classified as eight KD type II, 17 KD type III, and two KD type IV. The majority of the patients had associated meniscal (59.2%) or chondral (40.7%) injuries. At the 2 years’ follow-up visit, there were significant improvements in VAS score (p = 0.0001) IKDC score (p = 0.0001), Lysholm score (p = 0.0001), and range of motion (p = 0.001). None of the patients had residual laxity on clinical examination of the knee joint at the 2 years’ follow-up. All but two of the patients went back to their previous activity level. These two patients had progressive knee arthritis and needed knee arthroplasty. Conclusion Single-stage surgical reconstruction for chronic MKI has favourable functional outcomes. Level of evidence Level IV, case series.


2021 ◽  
pp. 175319342098321
Author(s):  
Anyuan Wang ◽  
Jian Ding ◽  
Long Wang ◽  
Tinggang Chu ◽  
Zhipeng Wu ◽  
...  

We present the MRI findings for 39 Wassel Type IV duplicated thumbs in 38 patients. We found that MRI revealed the morphology of the cartilaginous connection between the thumb anlages and the location of the deviation corresponding to the classification of Horii, which allowed precise preoperative planning of corrective osteotomies. All 39 thumbs were available for follow-up after surgical reconstruction at a mean of 29 months (range 25 to 39). Four out of nine Horii Type A cases and all 12 Type B, as well as the six Type C and the six Type D cases, achieved good results according to the Tada scoring system. Five Type A cases achieved fair results with residual stiffness of the interphalangeal joint. No secondary operations were needed. We conclude that MRI proved useful in subclassifying Wassel Type IV duplicated thumbs and may aid in planning the osteotomies needed for their reconstruction. Level of evidence: IV


2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Ahmed M. Bedda ◽  
Ahmed M. Abdel Hadi ◽  
Mohamed Lolah ◽  
Muhammad S. Abd Al Shafy

Purpose. To report the anatomic and visual results of a new sutureless illuminated macular buckle designed for patients with macular hole retinal detachment related to high myopia (MMHRD). Design. Prospective nonrandomized comparative interventional trial. Methods. Twenty myopic eyes of 20 patients (mean age, 51.4 years; range, 35–65 years) presenting with MMHRD with a posterior staphyloma, in whom the new buckle was used, were evaluated. The buckle used was assembled from a 5 mm wide sponge and a 7 mm wide silicone tire; it was fixed utilizing the sterile topical adhesive Histoacryl Blue (B Braun, TS1050044FP) which polymerizes in seconds upon being exposed to water-containing substances. The primary outcomes measured included aided visual acuity (BCVA) and optical coherence tomography (OCT) findings. The mean follow-up period was 6 months. Results. Postoperatively, the MH closure was identified by OCT in 8 (40%) eyes. The mean BCVA increased from 0.11 to 0.21 (p<0.005). The axial length of the eyes included decreased from 30.5 mm preoperatively to 29.8 mm (p=0.002) postoperatively. Conclusion. Preparation of the new sutureless macular buckle is simple and easy. Illumination of the terminal part of the buckle ensures proper placement. Histoacryl Blue is effective in fixing the buckle in its place for at least 6 months with no reported intra- or postoperative complications.


2020 ◽  
Author(s):  
Yilun Yao ◽  
Xiaoshu Wu ◽  
Lei Wu ◽  
Lei Yang ◽  
Chunzhi Jiang ◽  
...  

Abstract Background To explore the association between the classification for tibial plateau fractures (TPF) and the popliteal artery injury (PAI).Methods 22 TPF patients accompanied by PAI who were treated from May 2012 to July 2019 were retrospectively analyzed. There were 19 males and 3 females with an average age of 49.43 years. The Schatzker classification and three-column classification were performed for TPF. The severity of extremity injury was evaluated using the mangled extremity severity score (MESS). Except 3 patients treated with amputation, the remaining patients underwent surgical repair of popliteal artery and fracture external fixation. The outcome was evaluated using the Rasmussen score for tibial head fractures.Results There were 10 cases of Schatzker type IV fractures, 1 case of type V fractures and 11 cases of type VI fractures. Based on the three-column classification, the posterior column was involved in 22 cases, 2 columns in 15 cases and 3 columns in 6 cases. The MESS was 6-10 points, with an average of 7.59 points. Except 1 case directly receiving amputation, 3 cases of segment P1 injury was observed via preoperative DSA + intraoperative exploration, while segment P2 in 6 cases and segment P3 in 12 cases. Popliteal artery was found completely ruptured in 11 cases, partially ruptured in 1 case, and severely contused with thrombosis in 10 cases. The Rasmussen score was given to 19 patients at the last follow-up, except for the cases undergoing amputation. The outcome was satisfied in 14 cases, unsatisfied in 5 cases.Conclusion: In patients with complex TPF, the risk of PAI becomes higher with the increase of Schatzker classification level. Knee CT scan is helpful in determining the severity of fractures and evaluating PAI. Based on the three-column classification, PAI should be suspected when the fractures involve the medial and posterior column.PAI is mainly in the segment P3, and artery rupture or severe contusion with extensive thrombosis may occur.


2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Mana Abdullah Alharbi

Background. Treatment of postinflammatory hyperpigmentation (PIH) in patients with dark skin is challenging as the treatment itself might provoke paradoxical PIH. Only few studies examined the safety and efficacy of nonablative laser treatment in these patients. The objective was to examine efficacy and safety of nonablative 1927 nm wavelength laser followed by bleaching creams in the treatment of PIH. Methods. It was a prospective interventional pilot study that was conducted during 2019. All patients were of Fitzpatrick skin type IV who had unsatisfactory response to topical bleaching creams used for at least three months. Patients received one to four sessions of laser treatment (6 weeks apart) followed by topical hydroquinone 4% cream twice daily for 6 weeks. Improvement was assessed by two blinded independent dermatologist evaluators. Results. A total of nine patients were enrolled and the outcome could not be assessed in one patient who was lost for follow-up. The affected sites were the abdomen, face, and other body parts. Three of the eight evaluated patients had excellent response (37.5%), four had satisfactory response (50.0%), and one had nonsatisfactory response (12.5%). The downtime was manifested as edema and erythema that disappeared after 5 to 7 days. Improvement was more evident in first session and it declined in subsequent sessions. None of the patients had paradoxical pigmentation after treatment. Conclusions. Low energy low density nonablative fractional 1927 nm wavelength laser treatment followed by topical hydroquinone 4% cream for 6 weeks is a safe and effective modality for improving PIH in patients with darker skin types.


2021 ◽  
Author(s):  
Yongpeng Zhang ◽  
Jipeng Li ◽  
Xusheng Cao ◽  
Haiying Zhou ◽  
Liyun Jia ◽  
...  

Abstract Background We investigate the SD-OCT features of sub-inner limiting membrane (sub-ILM) hemorrhage after 577nm laser membranotomy. Methods The ocular fundus photography and SD-OCT of patients who received 577nm laser membranotomy for sub-ILM hemorrhage were assessed from January 2017 to March 2021 in this retrospective cases series study. Results Total of 7 patients (7 eyes) were enrolled in this study, in which 3 were female and 4 were male. The SD-OCT of ILM after laser treatment showed two distinctive features: the ILM falling back to retina (4 cases) or persistent unsealed ILM which forming premacular cavity (3 cases). The SD-OCT of macular fovea after laser treatment showed three features: normal contour (3 cases), macular hole (1 cases) and epiretinal membrane (1 case). The outer retina showed “peg-like” or “patchy-like” structure on the site of ILM attached to retina.Conclusions 577nm laser is effective in treating of sub-ILM hemorrhage and SD-OCT is effective for diagnosis and following-up of sub-ILM hemorrhage.


Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012542
Author(s):  
Shahar Shelly ◽  
Niaz Talha ◽  
Naveen L Pereira ◽  
Andrew G. Engel ◽  
Jonathan N Johnson ◽  
...  

Objective:We aimed to determine the genetic and clinical phenotypes of desmin-related myopathy patients and long-term outcomes after cardiac transplant.Methods:Retrospective review of cardiac and neurological manifestations of genetically confirmed desmin-related myopathy patients (Jan 1st, 1999-Jan 1st, 2020).Results:Twenty-five patients in 20 different families were recognized. Median age at onset of symptoms was 20 years (range: 4-50), median follow-up time of 36 months (range: 1-156). Twelve patients initially presented with skeletal muscle involvement and 13 with cardiac disease. Sixteen patients had both cardiac and skeletal muscle involvement. Clinically muscle weakness distribution was distal (n=11), proximal (n=4) or both (n=7) of 22 patients. Skeletal muscle biopsy from patients with missense and splice site variants (n=12) showed abnormal fibers containing amorphous material in Gomori trichrome stained sections. Patients with cardiac involvement had atrioventricular conduction abnormalities or cardiomyopathy. The most common ECG abnormality was complete AV block in 11 patients all of whom required a permanent pacemaker at a median age of 25 years (range: 16-48). Sudden cardiac death resulting in implantable cardioverter defibrillator (ICD) shocks or resuscitation were reported in 3 patients, a total of 5 patients had ICDs. Orthotopic cardiac transplantation was performed in 3 patients at 20, 35 and 39 years of age.Conclusions:Pathogenic variants in desmin can lead to varied neurological and cardiac phenotypes beginning at a young age. Two-thirds of the patients have both neurologic and cardiac symptoms usually starting in the third decade. Heart transplant was tolerated with improved cardiac function and quality of life.


2021 ◽  
Vol 12 (6) ◽  
pp. 773-777
Author(s):  
Mohamed F. Elsisy ◽  
Alberto Pochettino ◽  
Joseph A. Dearani ◽  
Thomas C. Bower ◽  
Robert D. McBane ◽  
...  

Background Cardiovascular surgical outcomes reports are few for vascular type IV of Ehlers- Danlos Syndrome (vEDS) compared to non-vascular types I-III (nEDS). Methods To define cardiovascular surgical outcomes among adult patients (≥18 years) with EDS types, a review of our institution's in-house STS Adult Cardiac Surgery Database-compliant software and electronic medical records from Mayo Clinic (1993–2019) was performed. Outcomes were compared for vEDS patients and nEDS patients. Demographics, baseline characteristics, operative, in-hospital complications and follow-up vital status were analyzed. Results Over the study time frame, 48 EDS patients underwent surgery (mean age 52.6 ± 14.6 years; 48% females). Of these, 17 patients had vEDS and 31 patients had nEDS. Six patients (12.5%) underwent prior sternotomy. Urgent or emergent surgery was performed in 10 patients (20.8%). Aortic (vEDS 76.5% vs. nEDS 16.1%) and mitral procedures (vEDS 11.8% vs. nEDS 48.4%) were the two most common cardiovascular surgeries performed (p < .01 and p = .007, respectively). Cardiopulmonary bypass time (CPB) (165 ± 18 vs. 90 ± 13 min; p = .015) and aortic cross clamp times (140 ± 14 vs. 62 ± 10 min; p < .001) were longer for vEDS patients. There was 1 (2.1%) early and 7 (14.6%) late deaths; 6 among vEDS and 2 among nEDS patients. Survival at 5 (80% vs. 93%), 10 (45% vs. 84%) and 15 years (45% vs. 84%) was lower in patients with vEDS (p = .015 for each comparison). Conclusion Cardiovascular surgeries are significantly more complex with longer bypass and cross clamp times for type IV vEDS compared to nEDS patients. Reduced overall survival underscores the complexity and fragility of vEDS patients.


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