Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.

BACKGROUND: Geleophysic dysplasia (GD) and Weill-Marchesani syndrome (WMS) are two rare genetic disorders that are classified as acromelic dysplasias and have many common features that overlap clinically and genetically in some patients. Both diseases are characterized by acromelic features, including short stature, brachydactyly, joint limitations, and cardiac involvement. WMS is distinguished from GD mainly by ocular abnormalities, including high myopia, microspherophakia, ectopia lentis, and glaucoma and the absence of the life-threatening airway stenosis and early lethality. These two syndromes are allelic diseases of the FBN1 gene, with the gene families including A Disintegrin and Metalloproteinase with Thrombospondin motifs (ADAMTS) and latent transforming growth factor-beta-binding protein (LTBP). Although the ADAMTSL2 gene has been associated only with GD within the acromelic dysplasias, there have been reports of patients with ADAMTSL2-related GD exhibiting ocular abnormalities that resemble WMS. METHODS AND RESULTS: We present a 24-year-old female patient with microspherophakia, ectopia lentis, myopia, short stature, joint stiffness, thick skin, short hands and feet, and cardiac valve disease consistent with WMS. The virtual panel analysis, including WMS and GD-related genes, revealed a homozygous c.493 G>A (p.Ala165Thr) variant in the ADAMTSL2 gene (NM_014694.4), which has been previously reported in a geleophysic dysplasia patient. CONCLUSIONS: Mounting evidence suggests that GD and WMS may be allelic diseases of the ADAMTSL2 gene.

Sunrise in the eye: Bilateral superonasal lens subluxation in Marfan syndrome.

Aim: To describe the case of a patient with Marfan syndrome who had bilateral superonasal lens subluxation. Method: The case of a male patient, aged 18, who complained of having impaired vision in both eyes (BE) since he was a toddler, was presented. On examination of the patient, features suggestive of Marfan syndrome were revealed, as well as bilateral intraocular lens subluxation. Results: The patient was refracted and glasses were recommended, which improved his vision. The patient was referred to the cardiology, orthopedic, and dental departments for a multidisciplinary approach to prevent complications and further management. Discussion: Lens subluxation is frequently presented as a primary clinical manifestation of Marfan syndrome. It can vary from asymptomatic, which is seen only after pupillary dilation, to significant subluxation, in which the equator of the lens in the pupillary axis causes diplopia or decreased vision. Conclusion: This case underscored the importance of considering the rare feature of Marfan syndrome.

Ectopia Lentis: Clinical profiles in a large cohort of children from a Tertiary Eye Care network in India.

PURPOSE: To study the clinical presentations, visual, and refractive profiles of children with congenital ectopia lentis in a large cohort of patients from a tertiary eye care network in India. MATERIALS AND METHODS: A retrospective review of electronic medical records from December 2012 to December 2020 was conducted. Two hundred and ninety-seven consecutive children ≤18 years of age at presentation were identified and analyzed for demographic details, patient distribution, lens subluxation, visual, and refractive profiles before and after the interventions. RESULTS: Five hundred and ninety-four eyes of 297 (male 56%; n = 166) patients were analyzed. The mean age at presentation was 8.74 ± 3.89. Best-corrected visual acuity (BCVA) at presentation ranged from 0.3 logMAR to 3.5 logMAR; (Snellen: 6/9 - close to face [CF]) (mean 0.89 ± 0.68). High myopia (n = 201; 33.83%) and mild astigmatism (n = 340; 57.23%) were more frequent. Temporal (n = 108; 18.18%) subluxation was most common followed by superior. Lensectomy with limited vitrectomy was performed in 243 eyes of 127 patients (40.90%). Median preoperative BCVA was 1.0 (range: 0.3-3.5 logMAR; 20/40 - CF). Median postoperative BCVA was 0.5 logMAR (6/18) in the pseudophakic group and 0.6 logMAR (6/24) in the aphakic group. Spherical equivalent in myopic children reduced from -12.06 ± 6.84D to -1.57D (-0.25D to - 5.5D) in the pseudophakic group and +9.3D (+5.5D to 15.5D) in the aphakic group. CONCLUSION: This study is a large cohort of children presenting with ectopia lentis. Following intervention, an improvement in the median BCVA and refractive correction was noted in the entire cohort.

Diagnosis of Marfan Syndrome Following Progressive Myopia and Secondary Lens-Induced Angle Closure Crisis.

Marfan syndrome (MFS) is a well-described genetic connective tissue disease that heightens the risk of cardiovascular, ocular, pulmonary, and other emergencies in affected individuals. The wide range of phenotypic presentations, spanning from mild, chronic, and asymptomatic to acute and life-threatening, can pose challenges in diagnosing MFS when disease manifestations are subtle. We report a pathogenetic variant of MFS characterized by subtle systemic findings that was identified only after the patient presented with visual changes and pain associated with angle closure, despite a medical history indicating other pathologies linked to this condition. This case underscores the importance of recognizing the varied and sometimes subtle clinical features of MFS. Vigilance in identifying the constellation of findings associated with MFS can enhance its diagnosis and treatment outcomes by enabling appropriate and timely referrals for prophylactic evaluation and care to address potentially life-threatening complications.

How do we treat severely prolapsed true ectopia cordis?

Ectopia cordis is an extremely rare condition where the heart displaces outside the thoracic cavity. Treating this, especially when accompanied by congenital heart diseases and severe protrusion, is challenging. Here, we present a case of successful treatment involving intracardiac repair and delayed sternal closure using local skin flaps.

Zonular fibre Insertion-to-Limbus Distance (ZLD): normative data to assess lens position and diagnose ectopia lentis.

PURPOSE: Subluxation of the crystalline lens (Ectopia Lentis, EL) can lead to significant visual impairment and serves as a diagnostic criterion for genetic disorders such as the Marfan syndrome. There is no established criterion to diagnose and quantify EL. We prospectively investigated the distance between the zonular fibre insertion and the limbus (ZLD) in healthy subjects as a parameter to assess the position of the lens, quantify EL and provide normative data. METHODS: This prospective, observational, cross-sectional study includes one-hundred-fifty eyes of 150 healthy participants (mean age 28 years, range 4-68). Pupils were dilated with tropicamide 0.5% and phenylephrine 2.5% eyedrops. ZLD was measured in mydriasis at the slit lamp as the distance between the most central visible insertions of the zonular fibres on the lens surface and the corneoscleral limbus. Vertical pupil diameter (PD) and refractive error were recorded. If zonular fibre insertions were not visible, the distance between limbus and the pupillary margin was recorded as ZLD. RESULTS: 145 right and 5 left eyes were examined. 93% of study subjects were Caucasian, 7% were Asian. In eyes with visible zonular fibre insertions (n = 76 eyes), ZLD was 1.30 ± 0.28 mm (mean ± SD, range 0.7-2.1) and PD was 8.79 ± 0.57 mm (7.5-9.8). In the remaining 74 eyes, ZLD was 1.38 ± 0.28 mm (0.7-2.1), and PD was 8.13 ± 0.58 mm (6.7-9.4). For all eyes, ZLD was 1.34 ± 0.29 mm (0.7-2.1), and PD was 8.47 ± 0.66 mm (6.7-9.8). Refractive error and sex did not significantly affect ZLD. Smaller PD and older age were associated with larger ZLD (P < 0.001 and P = 0.036, respectively). CONCLUSION: Average ZLD was 1.34 mm in eyes of healthy subjects. Older age correlated with larger ZLD. These normative data will aid in diagnosing and quantifying EL.

Renal Cell Carcinoma in a Patient With Crossed Renal Ectopia: A Case Report.

Crossed fused renal ectopia (CFRE) is a rare congenital anomaly in which a kidney is located on the opposite side from where its ureter connects to the bladder, merging into the other kidney. It has been linked to other rare congenital malformations, including the VACTERL association (vertebral anomalies, anal atresia, cardiac anomalies, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb abnormalities), the MURCS association (müllerian ducts, renal, and cervicothoracic spine anomalies), increased incidence of infections, obstruction, cystic dysplasia, and urolithiasis. Although the literature has documented only a small number of cases wherein CFRE coincides with neoplasia, we present the case of a 59-year-old patient with a right ectopic kidney fused to the left one and simultaneous primary renal cell carcinoma. We aim to report and discuss this case and the treatment approach, comparing it with existing literature to enhance our understanding and management of similar occurrences, as partial nephrectomy is uncommon due to the challenging anatomy of these cases.

Transverse testicular ectopia with an inguinal hernia: A rare case report.

INTRODUCTION: Transverse testicular ectopia (TTE) is a rare congenital condition characterized by migration of both testes through the same inguinal canal and often presents with an inguinal hernia. TTE is associated with various genitourinary anomalies. CASE PRESENTATION: A three-year-old boy presented with a non-palpable right testis and a palpable undescended left testis in the left inguinal area. Ultrasound (US) indicated the presence of both testes in the left inguinal canal. In surgery, the two testes were found with separated cord and one hernia sac which was dissected and ligated thus the two cords freed. Next, subdartos pouches were created on both scrotum sides, so that testes placed into the left side first, and then a window created in the scrotal septum which allowed the right testis to be translocated and secured in the right subdartos pouch without tension. DISCUSSION: TTE is a rare condition and the etiology is not definitively known. TTE usually presents with an inguinal hernia and contralateral cryptorchidism. The diagnosis is made during surgery, but some radiological methods can help in diagnosis. Management is usually surgical and involves interventions such as hernia repair, reduction of the testis and orchiopexy. Continuous monitoring is essential for ensuring postoperative testes health and evaluating the risk of malignancy. CONCLUSION: TTE should be suspected in cases with unilateral empty scrotum and family history of genital disorders. US is critical for accurately localizing the testes, along with surgical exploration, to proceed with the appropriate surgical intervention.

Comparative analysis of laparoscopic and open ureteroureterostomy for the treatment of pediatric duplicated kidneys: a clinical efficacy and safety study.

Background: Duplicated kidneys, though rare, are common in pediatric urinary issues. For children with complete kidney duplication and symptoms or complications, surgery is often needed. Ureteroureterostomy (UU) is a common procedure for this condition. This study aims to evaluate and compare the clinical efficacy and safety of laparoscopic ureteroureterostomy (LUU) and open ureteroureterostomy (OUU) in the treatment of pediatric duplicated kidneys. Methods: A retrospective study at Children's Hospital of Anhui Province from February 2017 to January 2023 included pediatric patients who underwent LUU or OUU for completely duplicated kidneys. Comparative measures included operative time, postoperative hospital stay, intraoperative blood loss, pre- and postoperative renal pelvis anteroposterior diameter, pre- and postoperative upper renal parenchymal thickness, pre- and postoperative upper ureteral diameter, and postoperative complications. Results: There are 30 patients, 20 in the LUU group and 10 in the OUU group. All patients underwent surgery successfully, with no conversions to open surgery in the LUU group. Comparison between the LUU group (average age 3.7±3.4 years) and the OUU group (average age 1.6±1.3 years) showed that laparoscopic surgery had a mean duration of 178.8±60.71 min, intraoperative blood loss of 4.3±0.92 mL, drainage tube removal time of 1.8±0.6 days, and postoperative hospital stay of 4.2±2.2 days. In contrast, the OUU group had a mean surgery duration of 181.6±37.8 min, drainage tube removal time of 2.3±0.7 days, intraoperative blood loss of 6.4±4.06 mL, and postoperative hospital stay of 5.8±1.8 days. Although the LUU group had a shorter surgical duration, the difference was not statistically significant. However, intraoperative blood loss, drainage tube removal time, and postoperative hospital stay were significantly reduced in the LUU group, with statistical significance (P<0.05). After surgery, one case of urinary tract infection occurred in each group. Both groups had double-J stents placed postoperatively, which were removed cystoscopically 4-6 weeks later. Preoperative examinations showed no significant differences between the LUU and OUU groups in terms of upper renal pelvis anteroposterior diameter, upper renal ureteral diameter, and upper renal parenchymal thickness. However, in terms of postoperative recovery indicators, the LUU group outperformed the OUU group significantly, including upper renal pelvis anteroposterior diameter, upper renal ureteral diameter, and upper renal parenchymal thickness, with statistical significance (P<0.05). No hydronephrosis or worsening hydronephrosis was observed in the lower kidneys and ureters of the 30 patients postoperatively. Symptoms disappeared in patients with preoperative dribbling, and pain symptoms in the waist and abdomen relieved. No postoperative febrile urinary tract infections were observed. Conclusions: UU is an effective and safe method for treating pediatric completely duplicated kidneys. Compared to open surgery, laparoscopic surgery is associated with less trauma, faster postoperative recovery, and superior postoperative recovery of anatomical parameters (anteroposterior diameter, ureteral diameter, and parenchymal thickness) of the upper kidneys.

Uncovering an Unusual FBN1 Gene Mutation Responsible for Marfan Syndrome: A Case Study.

Patients with Marfan syndrome have a constellation of clinical features and a heterogeneous phenotype. The purpose of this study is to report a 47-year-old male patient with an unusual variant in the FBN1 gene causing Marfan syndrome. The patient with musculoskeletal, cardiovascular, and ocular findings compatible with Marfan syndrome had an unusual pathogenic mutation on the FBN1 gene. The patient was examined by at least one of the authors (NJI). The patient's clinical findings were compatible with Marfan syndrome. Our patient had a unique mutation in the FBN1 gene (c.8054A>G p.His2685Arg) located on exon 65. Next-generation sequencing was done using the Invitae panel. This variant was categorized as one of uncertain significance. This patient's variant on the FBN1 gene leading to the syndrome has scant data associated with it and this is the first time it is reported from Puerto Rico.

Application of sutureless corneal incision for patients with congenital ectopia lentis - Is it feasible, effective and safe?

Purpose: To compare the clinical outcomes, feasibility, and safety between groups with sutured and sutureless wound closure in congenital ectopia lentis (CEL) patients. Methods: Patients with CEL who received phacoemulsification combined with intrascleral fixation of capsular hook (CH) and implantation of capsular tension ring (CTR) and in-the-bag intraocular lens (IOL) were included in this study. Results: A total of 68 eyes of 34 patients aged 18 years or younger were enrolled in this study. Incisions of 21 patients (34 eyes) did not require sutures while sutures were applied in 21 patients (34 eyes). Postoperative uncorrected distance visual acuity, best corrected distance visual acuity and intraocular pressure measurements were comparable on follow-up visits (P > 0.05). The magnitude of surgically induced astigmatism was significantly greater (P = 0.001) in the suture group (Median: 0.47; IQ: 1.63, 2.97) than in the sutureless group (Median: 0.88; IQ: 0.63, 1.35). No cases of endophthalmitis and retinal detachment were found postoperatively in either group, while suture-related complications were observed in the sutured group, including loose suture with discomfort in 5 (14.71%) eyes, loose suture with mucus infiltration in 3 (8.82%) eyes. In total, 22 sutures (64.71%) of 34 eyes required removal. Conclusions: Sutureless clear corneal incision in CEL patients can achieve satisfactory clinical results comparable to sutured wound closure in terms of the efficacy and safety. Advantages of this approach are the reduced risk of suture-related complications, no need for additional surgery under general anesthesia for suture removal, and less cost.

Accuracy of Glucagon Testing Across Transition in Young Adults with Childhood-Onset Growth Hormone Deficiency.

CONTEXT: The 2019 AACE guidelines suggested peak GH-cutoffs to glucagon test (GST) of ≤3 µg/L and ≤1 µg/L in the diagnosis of permanent GH deficiency (GHD) during the transition phase. OBJECTIVE: Aim of the study was to evaluate the accuracy of GST compared to insulin tolerance test (ITT) in the definition of GHD at adult height achievement. PATIENTS AND METHODS: Ninety-seven subjects with childhood-onset GHD (median age, 17.39 years) underwent ITT, GST and IGF-1 testing; 44 subjects were idiopathic (isolated GHD), 35 moderate organic GHD (0-2 hormone deficiencies-HDs) and 18 severe organic GHD (≥3 HDs). RESULTS: Bland and Altman analysis showed a high consistency of GH peak measures after ITT and GST. Receiver operating characteristic analysis-ROC- identified 7.3 µg/L as the optimal GH peak cutoff to GST (95% CI 4.15-8.91; sensitivity 95.7%, specificity 88.2%, positive predictive value-PPV-88.0%, negative predictive value-NPV-95.7%), able to correctly classify 91.8% of the entire cohort while 5.8 µg/L was the best GH peak cutoff able to correctly classify 91.4% of moderate organic GHD patients (95% CI 3.16-7.39; sensitivity 96.0%, specificity 80.0%, PPV 92.3%, NPV 88.9%). Patients with ≥3HDs showed a GH peak <5µg/L at ITT and <5.8µg/L at GST but one. The optimal cutoff for IGF1 was -1.4 SDS (95% CI -1.94-0.77; sensitivity 75%, specificity 94%, PPV 91.7%, NPV 81.0%) that correctly classified 85.1% of the study population. CONCLUSIONS: A GH peak to GST <5.8 µg/L represents an accurate diagnostic cutoff for young adults with childhood-onset GHD and high pre-test probability of permanent GHD.

Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2.

INTRODUCTION: Weill-Marchesani syndrome (WMS) is a hereditary connective tissue disorder with substantial heterogeneity in clinical features and genetic etiology, so it is essential to define the full mutation spectrum for earlier diagnosis. In this study, we report Weill-Marchesani-like syndrome (WMS-like) change to autosomal dominance inheritance caused by novel haplotypic mutations in latent transforming growth factor beta-binding protein 2 (LTBP2). METHODS: Twenty-five members from a 4-generation Chinese family were recruited from Guangzhou, of whom nine were diagnosed with WMS-like disease, nine were healthy, and seven were of "uncertain" clinical status because of their young age. All members received detailed physical and ocular examinations. Whole-exome sequencing, Sanger sequencing, and real-time PCR were used to identify and verify the causative mutations in family members. RESULTS: Genetic sequencing revealed novel haplotypic mutations on the same LTBP2 chromosome associated with WMS-like, c. 2657C>A/p.T886K in exon 16 and deletion of exons 25-36. Real-time PCR and Sanger sequencing verified both mutations in patients with clinically diagnosed WMS-like, and in one "uncertain" child. In these patients, the haplotypic mutations led to ectopia lentis, short stature, and obesity. CONCLUSION: Our study revealed that WMS-like may be associated with haplotypic LTBP2 mutations with autosomal dominant inheritance.

Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort.

BACKGROUND: Traboulsi syndrome is an under-recognized syndromic form of ectopia lentis (EL) caused by the aspartate beta-Hydroxylase (ASPH) variant. The genotype-phenotype profile of ASPH-associated disease is poorly understood due to the rarity of the condition. METHODS: We conducted targeted next-generation sequencing and bioinformatics analysis to identify potentially pathogenic ASPH variants in the cohort. Furthermore, we characterized the expression pattern of ASPH and major components of the zonules using single-cell RNA-sequencing (scRNA-seq) and evaluated the genotype-phenotype correlations by combining our data and those from the literature. RESULTS: We identified a novel missense variant c.2075G > A (p.G692D) and a recurrent nonsense variant c.1126C > G (p.R376*) of ASPH in two pedigrees from a Chinese cohort of EL. Both probands were 5-year-old boys with canonical facial dysmorphisms and bilateral anteriorly-dislocated lenses. Other ocular comorbidities included microspherophakia, shallow anterior chamber, and narrow chamber angel. No cardiac involvements or filtering blebs were identified. The single-cell expression atlas of ciliary epithelium demonstrated the coexpression of ASPH with FBN1, FBN2, and LTBP2 in the non-pigmented ciliary epithelium cells. Furthermore, molecular modeling simulation of p.G692D revealed increased affinity to the cb EGF-like domain and a subsequent destabilized calcium-binding motif. The genotype-phenotype analysis demonstrated that patients with cardiac involvements all harbored biallelic truncation variants. CONCLUSIONS: The data from this study provide new insights into the genotype-phenotype profile of ASPH-associated disease and implicate the potential role of ASPH in the pathogenesis of EL.

Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.

The cardinal phenotypic hallmarks of Marfan syndrome (MFS) include cardiac, ocular, and skeletal abnormalities. Since the clinical phenotype of MFS is highly heterogeneous, with certain symptoms appearing as children age, the diagnostic process and establishing a genotype-phenotype association in childhood MFS can be challenging. The lack of sufficient childhood studies also makes it difficult to interpret the subject. This study aims to evaluate the relationship between clinical symptoms used as diagnostic criteria and FBN1 variations in children with MFS. This study investigated the relationships between genotypes and phenotypes in 131 children suspected of having Marfan syndrome (MFS). Diagnosis of MFS was made according to the revised Ghent nosology. FBN1 variants were categorized based on exon regions, type of variant, and pathogenicity classes. These FBN1 variants were then correlated with the clinical manifestations including cardiovascular, ocular, facial, and skeletal abnormalities. Out of the children, 43 were diagnosed with MFS. FBN1 variant was identified in 32 (74.4%) of the MFS children. MFS diagnosis could not be made in five (15.6%) FBN1 variant-positive children. The most common cardinal finding is cardiac anomalies n = 38 (88.3%). The most common FBN1 pathogenic variant was c.1786 T > C/p.Cys596Arg n = 4 (12.5%). The distribution of pathogenic variants was as follows: 29 (90.6%) missense, 2 (6.3%) frameshift, and 1 (3.1%) nonsense. The numbers of AD and EL of the variant-positive children were 16 (50%) and 14 (43.7%), respectively. Ocular abnormalities were more common in children with FBN1-positive MFS (p = 0.009). There was no difference in the number of cardiac abnormalities between FBN1-positive and FBN1-negative MFS patients (p = 0.139).   Conclusion: This study examines the relationship between FBN1 variants and clinical features used as diagnostic criteria in MFS children. The findings emphasize the importance of long-term monitoring of heterogeneous clinical phenotypes and bioinformatic reanalysis in determining the genotype-phenotype relationship in children, as MFS symptoms can vary with age. What is Known: • Marfan syndrome has highly variable phenotypic heterogeneity. • The genotype-phenotype relationship in childhood Marfan syndrome is not clear enough due to the variation in the time of onset of the findings. What is New: • This article provides regional data for the field of research on genotype-phenotype relationships in childhood Marfan syndrome. • Long-term follow-up of clinical findings and bioinformatics reanalysis is an important requirement for a well-established genotype-phenotype relationship in childhood Marfan syndrome.

Images of Extremely Rare Cantrell Phenomenon.

We present a case of a neonate born with prenatal diagnosis of Cantrell syndrome and ectopia cordis. This extremely rare congenital disorder underscores the significant need for multimodality imaging to plan further management. The aim of the study was to present the thoracoabdominal syndrome using a three-dimensional computed tomography angiography. The CT scans confirmed complex intracardiac defects consisting of tetralogy of Fallot, total anomalous pulmonary venous return and persistent left superior vena cava. In conclusion, Cantrell syndrome necessitates a multidisciplinary approach, from the onset of the prenatal diagnosis followed by prompt medical imaging and surgical interventions after birth. The thoracoabdominal wall defect including complete ectopia cordis is an extremely rare disorder with a fatal outcome.

Lower and upper urinary tract urothelial carcinoma in crossed fused ectopic kidney.

Urothelial tumors in patients with anatomical abnormalities may pose significant challenges. Management follows the same principles which are employed in normal anatomy, however, thorough diagnostic investigation is warranted in order to delineate key anatomical landmarks. Meticulous pre-operative investigation should utilize every imaging modality which can assist the surgeons. We present a case of transitional cell carcinoma (TCC) in a crossed-fused kidney treated with nephro-ureterectomy. Only a handful of cases of TCC in CFRE have been reported. The case demonstrates the critical role of pre-operative anatomical studies and intra-operative identification of unique anatomy, which facilitate treatment and avoid complications.

Radioiodine Therapy: Alternative for the Treatment of Complicated Thyroid Ectopia.

Thyroid ectopy is the presence of thyroid tissue outside its normal cervical location. Clinical manifestations of thyroid ectopy are varied. The latter complications can be life-threatening. Emergency treatment is often surgical or endoscopic. We report a case of a 26-year-old man with tracheal thyroid ectopy, complicated by respiratory distress, in whom conventional treatments were not feasible. The patient was treated with radioiodine-131 administered in liquid form. The final control showed the complete resolution of the intra-tracheal mass. Intra-tracheal thyroid ectopy is a rare anomaly in which surgery is the traditional treatment. In certain cases where surgery is not feasible or refused, treatment with iodine-131 is a safe and effective alternative for the removal of ectopic thyroid tissue. The aim of our work is to show the significant efficiency of radioiodine therapy as an alternative for the treatment of complicated thyroid ectopia.

Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria.

BACKGROUND: Homocystinuria (HCU) is a rare metabolic disease that affects many organs, including the eyes. Aims: to assess visual functions, ocular characteristics, visual quality of life and time from the onset of ocular manifestations to HCU-diagnosis in patients with HCU. MATERIAL AND METHODS: Eighteen patients underwent ophthalmological examinations and visual quality of life questionnaires. RESULTS: Best corrected decimal visual acuity was median 1.0 (range amaurosis - 1.3) right eye and 1.0 (range amaurosis -1.3) left eye. Five patients presented with severe myopia as first HCU manifestation, duration to HCU diagnosis was mean 13.6 years (range 2-25). Two patients had suffered ectopia lentis as first HCU manifestation, HCU diagnosis was established mean 8.0 years (range 7-9) later. One patient had suffered both from thrombosis and ectopia lentis prior to diagnosis. Another four patients suffered thromboembolic events before diagnosis. Median VFQ-25 composite score was 93 (68-98). CONCLUSIONS: The prevalence of myopia, ectopia lentis and monocular blindness was high in HCU-patients, which was reflected in their visual quality of life. Diagnosis was often delayed after the first ocular manifestation, increasing the risk of other severe non-ocular complications.

Crossed renal ectopia with rectal cancer: A case report.

BACKGROUND: Crossed renal ectopia (CRE) occurs when one kidney crosses the midline from the primary side to the contralateral side while the ureter remains on the primary side. Rectal cancer, one of the most common malignant tumors of the digestive tract, refers to cancer from the dentate line to the rectosigmoid junction. The concurrent presentation of CRE alongside rectal cancer is an uncommon clinical observation. CASE SUMMARY: Herein, we report a 69-year-old male patient with rectal cancer who was diagnosed with CRE via computed tomography during hospitalization. Following thorough preoperative evaluations, the patient underwent Dixon surgery. CONCLUSION: We performed laparoscopic radical resection of rectal cancer and adequate lymph node removal in a patient with CRE with no postoperative discomfort.