Ophthalmologic Examination Research Articles

Choroidal macrovessel: literature review and analysis of clinical cases

Introduction. Choroidal macrovessel (CM) is a rare anatomical feature most often detected incidentally. Recent studies suggest an arterial origin of CM, with the majority of authors considering it to be an enlarged short posterior ciliary artery. The literature describes both variants of CM not associated with retinal changes and those complicated by exudative manifestations. Purpose. This study aims to describe two clinical cases of choroidal macrovessel and conduct a differential diagnosis based on literature data with clinically similar conditions. Material and methods. Patients underwent a standard ophthalmologic examination, as well as optical coherence tomography, optical coherence tomography angiography (protocols 10 and 20 degrees), and multispectral laser scanning. Results. We present descriptions of two clinical cases: CM in a patient with choroidal folds and a prominent CM with accompanying subretinal fluid. In both cases, CMs were incidental findings not associated with reduced visual acuity. In the second clinical example, we demonstrate the presence of subretinal fluid in a patient with CM, with no negative progression after one year of observation. For differential diagnosis, an analysis of conditions with similar clinical manifestations was conducted based on literature data. Conclusion. The presented clinical cases illustrate the diversity of CM manifestations. In most cases, the pathology is not associated with retinal structural abnormalities; however, it can cause retinal changes in some patients. Due to its rarity, CM can be considered a poorly studied anatomical feature, warranting dynamic observation upon detection.

Symptomatic Cerebellar Thrombosed Developmental Venous Anomaly: A Case Report

Abstract Background With the rising prevalence of advanced neuroradiological imaging, detection of incidental developmental venous anomalies (DVAs) is more commonplace. DVAs are rarely symptomatic (<2%). Typically, symptoms arise due to flow-related complications or mechanical effects. Of particular concern is venous thrombosis, a frequent flow-related complication, which can cause venous ischemia or haemorrhage. Thus, early recognition and intervention is important. Methods We describe a case of a 54-year-old male, with background of hypertension, presenting three days after sudden onset headache, ataxia, and diplopia. Initial clinical examination revealed bidirectional horizontal gaze-evoked nystagmus, skew deviation, and decreased temperature sensation of the left face. Ophthalmological examination identified left inferior rectus limitation. Results Initial non-contrast CT brain identified hypoattenuation in the right pons, suggestive of sub-acute infarction. Secondary prevention was initiated. Subsequent MRI performed 5 days later revealed hyperattenuation on T2 and FLAIR in the pons, right middle cerebellar peduncle, and right cerebellar hemisphere without restricted diffusion. SWI sequences identified an abnormal venous structure in the right cerebellum, with increased signal within it, suggestive of thrombus. The patient was diagnosed with a thrombosed DVA with associated venous oedema. Symptoms had resolved on dual antiplatelet therapy, without anticoagulation. Conclusion This case highlights the potential for DVAs, generally considered a benign entity, to become symptomatic with associated parenchymal damage and a rare, but important, stroke mimic. Moreover, it underscores the pivotal role of MRI imaging; while a CT scan might have led to the assumption of a subacute infarct, MR imaging led to a complete re-evaluation of the diagnosis in this case.

Lipemia retinalis following FLAG-Ida protocol in an 11-year-old patient with acute myeloid leukemia.

We report a case of early-onset lipemia retinalis secondary to the FLAG-Ida protocol in the treatment of acute myeloid leukemia (AML) in an 11-year-old girl. An 11-year-old patient, diagnosed with AML at four months old, experienced a relapse and was treated with the FLAG-Ida protocol (fludarabine, idarubicin, granulocyte-colony stimulating factor, and high-dose cytarabine). Prior to allogeneic stem cell transplantation, she underwent a pre-transplantation eye examination. The patient exhibited normal visual acuity in both eyes. Fundus examination revealed cream-white retinal vessels and a salmon-pink retina, indicative of grade 3 lipemia retinalis. Laboratory tests, normal before treatment initiation, showed significantly elevated serum cholesterol (727.6 mg/dL) and triglyceride (6015.6 mg/dL) levels post-treatment. After receiving fenofibrate, these levels decreased markedly, and the retinal vessels normalized on follow-up fundus examination. Lipemia retinalis, characterized by creamy-white retinal vessels resulting from hypertriglyceridemia, can develop as a secondary condition to chemotherapy. Early detection and treatment of hyperlipidemia are crucial to prevent severe ocular and systemic complications. This case highlights the importance of monitoring lipid levels and conducting thorough ophthalmologic examinations in patients undergoing chemotherapy.

Evaluation of the Effect of Topical Prostaglandin Analog Treatment on Orbital Structures in Open-Angle Glaucoma with Computed Tomography

Background/Objectives: This study aims to evaluate the computed tomography (CT) scans of glaucoma patients using prostaglandin analogs (PGA) in one eye, investigate findings associated with prostaglandin-associated periorbitopathy (PAP), and compare these findings with those of the contralateral eyes. Methods: Patients with open-angle glaucoma who had CT images of the orbital region taken for another reason at least one month after starting PGA treatment in one eye were included in the study. Enophthalmos measurements from thin-slice CT images, along with 3D volume measurements of orbital fat tissue, periorbital muscles, and the optic nerve, were performed. Ophthalmological examination findings and treatment information were collected. The values were compared with those of the contralateral eyes of the same patients not using PGA. Intraclass correlation coefficients (ICCs) were computed to evaluate measurement repeatability. Results: Forty patients were included in the study. Among them, 29 (72.5%) used latanoprost, 9 (22.5%) used bimatoprost, and 2 (5%) used travoprost. The mean enophthalmos values on the treated side (15.5 ± 2.0 mm) were lower than on the untreated side (16.1 ± 1.4 mm), but this difference was not statistically significant (p = 0.07). In 29 patients (72.5%), enophthalmos measurements were smaller on the treated side, with 7 patients (17.5%) showing a difference of 2 mm or more. No significant correlation was found between the duration of PGA use and enophthalmos measurements (p = 0.768 r = −0.048). Additionally, no significant differences were found in orbital fat volume, total extraocular muscle volume, and optic nerve volume (p > 0.05). ICC values demonstrated excellent reliability (ICC > 0.75) for all measurements. Conclusions: We did not find significant differences in enophthalmos measurements, orbital fat volume, total muscle volume, and optic nerve volume between the PGA-treated and untreated eyes.

Variations in anterior segment parameters among different phenotypes of polycystic ovary syndrome

PurposeThe objective of this study was to evaluate anterior segment parameters across various phenotypes of polycystic ovary syndrome (PCOS), considering body mass index (BMI), serum estradiol and testosterone levels.Materials and MethodsThis prospective study included 116 women with PCOS, with each of the four distinct phenotype comprising 29 women. Additionally, 29 healthy women were included in the control group. All participants underwent comprehensive ophthalmologic examinations, including intraocular pressure (IOP) measurements. Anterior segment parameters, such as central corneal thickness (CCT), axial length (AL), aqueous depth (AD), anterior chamber depth (ACD), and lens thickness (LT) were measured using optic biometry. Endothelial cell density (ECD) was assessed using non-contact specular microscopy. The BMI was calculated, and serum levels of estradiol and testosterone were noted.ResultsIOP was found to be significantly higher (p = 0.003) and CCT was significantly thicker (p = 0.004) in all phenotypes of PCOS compared to the control group. BMI, serum estradiol and free testosterone were found to correlate with both IOP and CCT. AL, AD, ACD and LT values showed no significant differences compared to the control group. Although ECD tend to be higher in the PCOS phenotypes, this difference was not statistically significant (p > 0.05).ConclusionGiven our findings that CCT and IOP are significantly elevated in PCOS phenotypes. PCOS should be considered as an important factor when evaluating female patients for anterior segment diseases and glaucoma.

Best-Corrected Visual Acuity Quantitative Prediction for Cataract Patients: AI-Assisted Clinical Diagnostics Facilitation via the Inverse Problem Algorithm

Objective: This study provided a quantitative prediction of best-corrected visual acuity (BCVA) for cataract patients using the inverse problem algorithm (IPA) technique earlier proposed by the authors. Methods: To this end, seven risk factors (age, BMI, MAP, IOP, HbA1c, LDL-C, and gender) were linked by a semi-empirical formula by normalizing each factor into a dimensionless range of −1.0 to +1.0. The adopted inverse problem algorithm (IPA) technique was run via a self-developed program in STATISTICA 7.0, featuring a 29-term nonlinear equation considering seven risk factors, cross-interaction between various pairs of factors, and one constant term [7 + (7 × 6)/2 + 1 = 29]. The IPA neglected quadratic, triple, or quadruple factors′ cross-interactions. This study used a dataset of 632 cataract patients to attain a reliable BCVA prediction with a variance of 0.929. A verification dataset of 160 patients with similar symptoms was used to verify this approach′s feasibility, reaching a good correlation with R2 = 0.909. Results: The verification group′s derived average AT (agreement) (9.12 ± 27.00%) indicated a slight deviation between the theoretical prediction and practical BCVA. The significant factors were age, body mass index (BMI), and intraocular pressure (IOP), whereas mean arterial pressure (MAP), hemoglobin A1c (HbA1c), low-density-lipoprotein cholesterol (LDL-C), and gender insignificantly contributed to BCVA. Conclusions: The proposed approach is instrumental in AI-assisted clinical diagnosis, yielding robust BCVA predictions for individual cataract patients based on their biological indices before the ophthalmological examination procedure.

Review of emerging trends and projection of future developments in large language models research in ophthalmology

BackgroundLarge language models (LLMs) are fast emerging as potent tools in healthcare, including ophthalmology. This systematic review offers a twofold contribution: it summarises current trends in ophthalmology-related LLM research and...

Retinal Microvascular Changes in Association with Endothelial Glycocalyx Damage and Arterial Stiffness in Patients with Diabetes Mellitus Type 2: A Cross-Sectional Study in a Greek Population.

To evaluate the potential association between endothelial glycocalyx damage, as well as arterial stiffness, and the retinal changes on optical coherence tomography (OCT) and OCT-angiography (OCT-A) in patients with type 2 diabetes mellitus (DM). Participants in this cross-sectional study were 65 patients with DM type 2 and 42 age- and gender-matched controls without DM. The demographic and clinical characteristics of the participants were recorded. All patients underwent a thorough ophthalmological examination and multimodal imaging, including fundus photography, OCT, and OCT-A. In addition, evaluation of the endothelial glycocalyx thickness by measuring the perfused boundary region (PBR5-25) of the sublingual microvessel, as well as of the arterial stiffness, by measuring the carotid-femoral pulse wave velocity (PWV), the central aortic pressures and the augmentation index (Aix) was performed. Univariate and multivariate logistic regression analysis was performed for the examination of the potential association between the eye imaging variables and the cardiovascular-related variables. The odds ratios (OR) with the respective 95% confidence intervals (CI) were calculated. A p-value < 0.05 was considered statistically significant. Patients with DM presented significantly higher PBR5-25 compared to controls without DM (p = 0.023). At the univariate analysis, increased PBR5-25 (≥2.19 μm vs. <2.19 μm) was associated with decreased peripapillary VD at the superior quadrant (univariate OR (95% CI) = 0.34 (0.12-0.93), p = 0.037). Multivariate logistic regression analysis showed that increased PWV (≥13.7 m/s vs. <13.7 m/s) was associated with an increased foveal avascular zone (FAZ) area on OCT-A (p = 0.044) and increased FAZ perimeter (p = 0.048). Moreover, increased Aix (≥14.745% vs. <14.745%) was associated with diabetic macular edema (DME) presence (p = 0.050) and increased perifoveal and parafoveal superior and temporal thickness on OCT (p < 0.05 for all associations). Markers of endothelial damage and arterial stiffness were associated with structural and microvascular retinal alterations in patients with DM, pointing out that OCT-A could be a useful biomarker for detecting potential cardiovascular risk in such patients.

Mass Screening for Primary Open-Angle Glaucoma: Is It Really Relevant?

Glaucoma, one of the leading causes of blindness worldwide, poses a significant public health challenge. Despite advancements in diagnostic technologies, early detection remains a challenge. This study assesses the relevance of glaucoma screening in a population-based context. Conducted in October 2023, this retrospective study involved 434 employees at two pharmaceutical laboratory sites. The average age was 44 years, with a female-to-male ratio of 0.7. A family history of glaucoma was reported in 74 participants (17%). Intraocular pressure (IOP) measurements showed that 20 participants (4.6%) had IOP above 21 mmHg, while the average IOP in the studied population was 15.5 mmHg. Glaucomatous damage to the optic nerve head was observed in 65 cases (15%). A total of 71 employees (16.5%), including 70% women, were re-examined in a hospital setting, where they underwent comprehensive ophthalmological examinations. Among them, 13 participants (18%) were diagnosed with glaucoma, representing 2.9% of the initially screened employees. This study highlights the ongoing challenge of preventing irreversible blindness due to glaucoma. Although the diagnostic approach used was effective for early detection among employees, the overall value of mass glaucoma screening remains debated. This debate is due to the disease's low prevalence, the lack of highly sensitive and specific screening tests, economic considerations, and the impact on the quality of life of those screened. Further studies are needed to evaluate the clinical effectiveness and economic efficiency of various screening strategies.

Choroidal Alterations in Diabetic Macular Edema Treated with Intravitreal Dexamethasone: What Can Choroidal Vascularity Index Tell Us?

Diabetes mellitus (DM) significantly impacts ocular health, particularly the retina and choroid, leading to diabetic retinopathy (DR) and diabetic macular edema (DME). This study aimed to evaluate the effects of intravitreal dexamethasone (IVD) on the choroidal vascularity index (CVI) in order to evaluate its potential as a biomarker. This was a retrospective observational study in which 37 eyes with DME treated with IVD were included. Baseline and follow-up (2 and 4 months post-injection) comprehensive ophthalmological examinations and spectral domain optical coherence tomography (SD-OCT) were performed. The CVI, luminal area (LA), stromal area (SA), and total area (TA) were assessed. No statistically significant changes in CVI, LA, SA, and TA were observed in the overall patient sample from baseline to 2 and 4 months post-IVD injection. However, a significant CVI reduction was noted in responder patients at 4 months. Positive correlations were found between the CVI and central macular thickness (CMT) at 2 months, suggesting that higher CMT values are associated with higher CVI values. This study indicated that IVD influences choroidal circulation, as evidenced by CVI reduction in responder patients. The CVI could potentially serve as an objective biomarker for treatment response in DME. Larger, prospective studies are warranted to clarify these findings further.

Anterior Nasal Superior Oblique Tendon Syndrome: A Case Series

PurposeTo evaluate the clinical characteristics and management of patients with an anteriorly and nasally inserted superior oblique tendon. DesignRetrospective interventional case series. MethodsInstitutional clinical records between 2020 and 2024 were retrospectively reviewed for 9 consecutive patients in whom the superior oblique (SO) tendon was inserted anterior to the equator and nasal to the superior rectus muscle. Information collected included age, sex, ocular and surgical history, preoperative and postoperative data (ophthalmologic examinations, strabismus measurements, ductions and versions), intraoperative findings, need for additional surgery, and follow-up time. ResultsAll nine patients were found to have an anomalous insertion of the SO tendon. Three were of congenital origin and six were acquired following ocular surgery. Among the acquired cases, all but one resulted from incarceration of the tendon from post-surgical scar tissue formation. The remaining acquired case was due to a prior deliberate anterior and nasal transposition of the superior oblique. This case series demonstrated varying degrees of vertical deviations, lateral incomitance, and limited depression. Repositioning the SO to its normal insertion site yielded equivocal improvement in ocular alignment. ConclusionAnterior nasal superior oblique tendon syndrome is a rare clinical entity characterized by an anti-depressor effect. Vertical deviations, hypertropia worse in downgaze, limited depression worse in adduction for congenital cases and in abduction for acquired cases, and lateral incomitance may be indicative of this anomaly. In acquired cases following surgery, additional findings may include limited depression worse in abduction, esotropia in abduction, V-pattern esotropia, and enophthalmos in downgaze. Surgical repositioning of the SO along its normal anatomical trajectory is recommended for treatment. However, outcomes may be variable and achieving a complete resolution of this syndrome can be challenging.

“Don’t miss the globe” – Study of diagnostic accuracy of computed tomography in detecting open globe injury

Abstract: PURPOSE: The purpose is to determine the computed tomography (CT) characteristics of open globe injury and establish the relative accuracy and reliability of various features on CT. Second, to assess the significance of a difference in the anterior chamber depths (ACDs) on CT in cases of open globe injury. METHODS: The diagnostic database of our radiology department was retrospectively reviewed to obtain details of patients with a history of blunt or penetrating injury to the orbit between September 2018 and March 2021. A total of 190 patients (144 males and 46 females) were included. A radiologist analyzed the CT scans without prior knowledge of ophthalmologic findings or surgical outcomes. Operative and ophthalmic examination findings were considered the gold standard for comparison. RESULTS: Out of 190 injured globes, the final clinical diagnosis confirmed 54 (28.4%) open globe injuries and 136 (71.5%) closed globe injuries. Between the two groups, intraocular hemorrhage, lens dislocation, lens injury or absence, intraocular foreign body, intraocular air, wall/contour defect, and ACD change were considered statistically significant (P &lt; 0.05). The average sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of CT in diagnosing open globe injury were 71.3%, 98.5%, 83.6%, 95.75%, and 94.9%, respectively. CONCLUSION: Globe contour deformity or defect, intraocular hemorrhage, and a change in ACD were the three most predictive signs of open globe injury. CT is of valuable help in a multi-trauma setting and in an uncooperative patient for ophthalmological examination to draw attention to globe injury. However, CT examination alone is insufficient in detecting all cases of open globe injury. There is a need for a more collaborative approach among emergency physicians, ophthalmologists, and radiologists.

Mucopolysaccharidosis Type I (Hurler – Scheie Syndrome): Case Report

Background. Mucopolysaccharidosis type I (MPS I) is an inherited disease caused by pathogenic variants in the IDUA gene, which encodes the lysosomal enzyme alpha-L-iduronidase. This clinical case demonstrates the importance of diagnosing rare diseases when patients have phenotypic features indicating hereditary pathology presence. Phenotype changes can be so-called “red flag” that helps specialists suspect and diagnose lysosomal storage diseases. Clinical case description. The patient was observed with delayed psychomotor development; she also had hepatomegaly and on auscultation of the heart there was a functional systolic murmur above the apex and in the Botkin–Erb point on heart auscultation. Coarse “garholoid” facial features attracted attention at external examination: large nose, wide sunken nose bridge, macroglossia, thick lips, synophrysis, scaphocephaly, wide chest, and flat-valgus feet. Echocardiography has revealed mitral valve insufficiency and hardened valve leaflets. Ophthalmologist examination: hypermetropic astigmatism. Psychiatrist examination: mental and speech development delay. Enzymatic diagnostics: significant decrease in alpha-Liduronidase activity. No further examinations were carried out due to the onset of the COVID-19 epidemic and parents' doubts about the diagnosis. The patient was readmitted to the hospital at the age of 6 years due to aggravation of her condition. A molecular genetic study has revealed two pathogenic variants in the IDUA gene. Diagnosis of MPS I was established according to the clinical data, results of biochemical and molecular genetic studies. Conclusion. This clinical case demonstrates the classic course of MPS I with typical phenotypic signs and lesions in various organs and systems. The presented case demonstrates the importance of professional vigilance among doctors of various specialties regarding orphan diseases.

Managing Traumatic Cataract in the Left Eye Following Blunt Trauma

Cataract is an opacity of the lens that causes a progressive decrease in visual acuity. Cataracts are the leading cause of blindness in the world and can be caused by many factors. This case report aims to identify and recognize the symptoms of cataract and appropriate management in a patient with traumatic cataract. A 54-year-old male patient came to the Eye Polyclinic of Dr. Zainoel Abidin Regional General Hospital Banda Aceh with complaints of blurred vision in the left eye like a fog that has been felt since 8 months ago after an accident and the left eye was hit by a motorcycle handlebar where the patient felt the complaint worsened in the past 2 months. Initially the patient felt glare when looking at light or car lights at night. On ophthalmologic status examination, it was found that the OS visus was 1/300 and the OS lens was cloudy. The patient was diagnosed with traumatic cataract OS ec blunt trauma. The management performed on the patient was lens extraction using the small incision cataract surgery (SICS) method and intraocular lens (IOL) insertion. The patient's vision improvement after cataract surgery was 5/24 at the first follow-up, 5/18 at the second follow-up, 5/9 at the third follow-up and there were no other ocular abnormalities due to trauma.

Neurodevelopmental Outcomes in Children Vertically Exposed to Chikungunya Virus: A Two Years Follow-up Study.

To monitor by the first 24 months of life, children born to mothers with laboratory evidence of chikungunya virus (CHIKV) infection during pregnancy or up to 8 weeks before it, and to describe abnormalities in head circumference (HC), auditory and ophthalmological assessments and neuroimaging tests during the follow-up period. This is a observational, descriptive, longitudinal and prospective study of children born to mothers who had a rash and a positive test for CHIKV during pregnancy or up to 8 weeks before it. They were admitted between November 2015 and May 2019 in the outpatient multidisciplinary clinic to investigate acute exanthematous disease. The exposed children were followed up by a multidisciplinary team and underwent periodic measurements of the HC. The Denver II test was applied, in addition to transfontanellar ultrasound (TU) to evaluate neurodevelopmental outcomes during the study period. Ophthalmological and auditory examinations, echocardiography and laboratory tests were also included. We included in the study 27 children vertically exposed to CHIKV. All children had a negative polymerase chain reaction test for the virus collected at the first outpatient visit (mean age of 16.8 days and standard deviation of 8 days). No clinical condition compatible with congenital infection at birth was reported. A change in HC characterized by macrocephaly and mild global delay development was observed in a 1-year-old child whose mother was infected in the peripartum, but with normal TU. Changes in the TU were observed in 2 other children with nonspecific subependymal cystic malformation that was not evident by the cranial computed tomography. The other children monitored showed normal results in the Denver II test, in the HC and TU. No changes were identified on ocular ophthalmoscopy or auditory brainstem response test. Two children had an increase in serum ferritin levels during the first year of life, with the others' inflammatory disease markers normal. Our study added knowledge about the neurodevelopment of children exposed to CHIKV during pregnancy by a longitudinal and prospective follow-up, throughout their first 24 months of life. We did not observe a negative impact of exposure to the virus on the neurological examination, global developmental test or measurements of the HC of these children.

Navigation performance in glaucoma: virtual-reality-based assessment of path integration

Navigation is essential for moving between locations in our daily lives. We investigated the relationship between visual impairment in glaucoma and path-integration-based navigation. Fourteen glaucoma and 15 controls underwent ophthalmological examination (including visual acuity (logMAR), visual field sensitivity (MD: mean deviation from matched reference cohort), and peripapillary retinal nerve fiber layer (pRNFL)). Both groups navigated physically in virtual reality (VR) environments during daylight and dawn conditions. Briefly, the participants traversed a path marked by three targets, subsequently pointing back to the path’s origin. Outcome measures included (i) travel-time, (ii) pointing-time, and (iii) Euclidian-distance error between indicated and starting position. Robust linear regression was conducted between visual function outcomes of the better eye and VR outcome measures. Glaucoma patients showed increase in travel-time (by 8.2 ± 1.7 s; p = 0.002) and in pointing-time (by 5.3 ± 1.6 s; p = 0.016). Predictors were MD for all outcome measures (p < 0.01) and pRNFL for travel-time (p < 0.01). The results suggest that the effect of glaucoma on the elapsed time depends on disease progression, i.e. people with stronger visual impairment need more time. This uncertainty during everyday navigation tasks may adversely affect their quality of life.

Tracking Macular Sensitivity and Inner Retinal Thickness in Long-Term Type 1 Diabetes: A Five-Year Prospective Examination in Patients without Diabetic Retinopathy.

The aim of the study is to compare macular sensitivity and retinal thickness in patients with long-term type 1 diabetes mellitus (DM1) without diabetic retinopathy (DR) after 5 years of follow-up. Thirty-two eyes from 32 long-term DM1 patients without DR were included. All participants underwent a complete ophthalmological examination, including microperimetry and spectral domain optical coherence tomography (SD-OCT). The data were compared with results from 5 years prior. The mean age of the DM1 patients was 43.19 ± 10.17 years, with a mean disease duration of 29.84 ± 8.98 years and good glycemic control. In 2023, patients exhibited a significantly worse best corrected visual acuity (BCVA) compared to 2018 (p < 0.001). DM1 patients did not show statistically significant changes in macular sensitivity over the 5-year follow-up period. Macular integrity showed significant differences between the two time points (p = 0.045). Retinal thickness showed significant differences, particularly in inner retinal layers (IRL) across most of the ETDRS areas. Long-term DM1 patients without DR lesions showed worsened macular integrity and a lower BCVA in 2023. Additionally, they displayed significant alterations in retinal thicknesses, especially in the IRL, between 2018 and 2023. These findings suggest that even in the absence of visible DR, long-term DM1 patients may experience subclinical retinal changes and functional deterioration over time, highlighting the importance of regular monitoring for the early detection and management of potential complications.

Associations between Fetal Symptoms during Pregnancy and Neonatal Clinical Complications with Toxoplasmosis.

Toxoplasmosis is a parasitism transmitted by Toxoplasma gondii, part of the TORCH complex, the most prevalent parasitism worldwide. It is asymptomatic in immunocompetent individuals but causes severe infections and developmental abnormalities in pregnant women, mainly affecting the central nervous system and the gastrointestinal system. In our prospective study, we analyzed cases of recent maternal Toxoplasma infections confirmed by serological testing between 1996 and 2020 at the Department of Obstetrics and Gynecology, Semmelweis University. Amniocentesis, followed by PCR, was performed in cases of recent infection confirmed by serological testing during pregnancy. After birth, a neonatological, microbiological, pediatric neurological and ophthalmological examination and a follow-up was carried out. During the study period, a total of 238 cases of amniotic fluid Toxoplasma PCR testing due to Toxoplasma recent infection were performed. In terms of pregnancies, there were 219 deliveries and seven abortions. Twelve cases had no data available on the outcome of the pregnancy. In total, 133 cases of ultrasound abnormalities were detected during pregnancy, while in 105 cases, no abnormalities were detected on ultrasound examination. During amniocentesis, eight cases of Toxoplasma infection were revealed in amniotic fluid samples by PCR, and in 230 cases, the result was negative. Neonatal follow-up was performed in 139 cases, with no abnormalities during follow-up in 117 cases, and in 22 cases, there was a detectable complication that was likely to be related to Toxoplasma infection. In all 22 cases, amniotic fluid PCR Toxoplasma testing was negative. The most common ultrasound abnormalities involve the nervous system and the gastrointestinal system. In cases of suspicion, it is recommended to perform amniocentesis Toxoplasma PCR testing besides the indirect methods to help the pregnant woman decide whether to carry the pregnancy to term. During follow-up, a multidisciplinary team experienced in pregnancies complicated by toxoplasmosis must carry out the follow-up, care and subsequent development.

Clinical and genetic characterization of three families with Nance-Horan syndrome caused by NHS gene mutations

Objective: To explore the clinical phenotypes and pathogenic gene variation characteristics of three Chinese Han ethnic families affected by Nance-Horan syndrome, a rare X-linked genetic disorder. Methods: A pedigree investigation study was conducted at the First Affiliated Hospital of Zhengzhou University, collecting clinical data from three Chinese Han families with Nance-Horan syndrome between February 2009 and September 2018. Detailed family histories, comprehensive ophthalmological and systemic examinations were documented. Pedigree charts were created, and genetic inheritance patterns were analyzed to preliminarily diagnose the probands and other affected individuals. Genomic DNA was extracted from peripheral blood samples of family members, and next-generation sequencing was used to screen for target gene variations, which were confirmed by Sanger sequencing. Pathogenicity of the genetic variants and their impact on three-dimensional protein structure were analyzed using MutationTaster and computer-aided protein modeling. Results: In Family 1, there are 5 patients, including 4 females (aged 42, 37, 9 and 7) and 1 males (aged 12). In Family 2, there are 5 patients, including 3 females (aged 54, 32 and 16) and 2 males (aged 26 and 9). In Family 3, there are 8 patients, including 5 females (aged 69, 42, 37, 35 and 14) and 3 males (aged 10, 7 and 4). All probands in the three families exhibited nuclear cataracts with typical congenital hereditary cataract features, but no noticeable abnormalities in facial appearance or teeth. Next-generation sequencing identified new variation sites in the NHS gene, specifically c.2519_2520del, exon3del, and c.3847C>T. These variations included nonsense mutation p.(Ser840*), exon deletion p.(?), and nonsense mutation p.(Gln1283*). Combined clinical and genetic sequencing results confirmed X-linked Nance-Horan syndrome in all three families. Bioinformatics analysis indicated these variation sites were pathogenic and resulted in abnormal three-dimensional protein structures, likely being the main cause of Nance-Horan syndrome. Conclusion: The majority of patients from the three Nance-Horan syndrome families studied were affected by congenital hereditary cataracts characterized by nuclear opacities.The NHS gene variations c.2519_2520del, exon3del, and c.3847C>T are newly identified pathogenic sites in Nance-Horan syndrome, reported for the first time across three different families.

Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 Carriers.

Brain MRI abnormalities and increases in neurofilament light chain (NfL) have mostly been observed in cross-sectional studies before ataxia onset in polyglutamine spinocerebellar ataxias. Our study aimed to identify longitudinal changes in biological, clinical, and/or imaging biomarkers in spinocerebellar ataxia (SCA) 2 and SCA7 carriers over 1 year. We studied SCA2 and SCA7 carriers and controls (expansion-negative relatives) at the Paris Brain Institute. Inclusion criteria included Scale for the Assessment and Rating of Ataxia (SARA) scores between 0 and 15. Assessments at baseline, 6 months, and 12 months comprised neurologic, quality of life, orofacial motor, neuropsychological, and ophthalmologic examinations, along with gait and oculomotor recordings, brain MRI, CSF, and blood sampling. The primary outcome was the longitudinal change in these assessments over 1 year. We included 15 SCA2 carriers, 15 SCA7 carriers, and 10 controls between May 2020 and April 2021. At baseline, the ages were similar (41 [37, 46] for SCA2, 38 [28.5, 39.8] for SCA7, and 39.5 [31, 54.5] for controls, p = 0.78), as well the sex (p = 0.61); SARA scores were low but different (4 [1.25, 6.5] in SCA2, 2 [0, 11.5] in SCA7, and 0 in controls, p < 0.01). Pons and medulla volumes were smaller in SCAs (p < 0.05) and cerebellum volume only in SCA2 (p = 0.01). Plasma NfL levels were higher in SCA participants (SCA2: 14.2 pg/mL [11.52, 15.89], SCA7: 15.53 [13.27, 23.23]) than in controls (4.88 [3.56, 6.17], p < 0.001). After 1-year follow-up, in SCA2, there was significant pons (-144 ± 60 mm3) and cerebellum (-1,508 ± 580 mm3) volume loss and a worsening of gait assessment; in SCA7, SARA score significantly increased (+1.3 ± 0.4) and outer retinal nuclear layer thickness decreased (-15.4 ± 1.6 μm); for both SCA groups, the orofacial motor assessment significantly worsened. For preataxic and early ataxic carriers, the strongest longitudinal deterioration on outcome measures was orofacial motility in SCA2 and retinal thickness in SCA7. Despite the limitation of the small sample size, we detected annual changes in preataxic and early ataxic SCA individuals across brain MRI imaging, clinical scores, gait parameters, and retinal thickness. These parameters could serve as potential end points for future therapeutic trials in the preataxic phase. ClinicalTrials.gov NCT04288128.