Ophthalmologic Evaluation Research Articles

Genotype–Phenotype Correlations of Nance–Horan Syndrome in Male and Female Carriers of a Novel Variant

Background: Nance–Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature. The objective of this case report is to describe a novel variant in NHS, as well as to discuss genotype–phenotype correlations. Methods: Whole-exome sequencing was performed in 3 affected individuals (2 males and 1 female) with pediatric cataracts from the same family, as well as in 2 unaffected members from the same family. Ophthalmological and clinical genetic evaluations were conducted. Results: The likely pathogenic variant c.3333del (p.Phe1111Leufs*9) was found in all affected individuals, as well as in one unaffected female family member. Our family was initially diagnosed with isolated hereditary cataracts, but only after the sequencing results was the phenotype revealed, with the systemic features being identified. Conclusions: This reinforces the importance of genetic testing of bilateral familial pediatric cataracts, especially since systemic features such as dental anomalies and intellectual disability may take years before they develop. Not only did genetic testing help to identify extraocular features, but it also made possible accurate family counseling essential in all pediatric cataract cases.

Child Maltreatment Evaluations Following Out-of-Hospital Cardiac Arrests.

In children admitted after an out-of-hospital cardiac arrest (OHCA), this study 1) determines the proportion that undergo: physical abuse and toxin exposure evaluation, child protection team (CPT) consultation, and child protective services (CPS) referral, and 2) evaluates the association between demographic, social, clinical characteristics with CPT consultation and CPS referral. Retrospective chart review was conducted of children < 4 years old admitted following an OHCA between November 2012 and February 2023. Associations between demographics, caregiver social risk factors, and clinical characteristics with CPT consultation and CPS referral were examined using logistic regression. Among 157 cases, 70 (45%) had skeletal surveys; eight (11%) identified an occult fracture. Seventy-five (48%) children had toxicology testing; Sixteen of the 75 (21%) revealed a toxic ingestion. Sixteen of the 49 (33%) patients receiving ophthalmologic evaluations had significant retinal hemorrhages. Seventy-seven (49%) patients had a CPT consultation, while 74 (47%) were referred to CPS. A history concerning for ingestion perfectly predicted CPT consultation. History of ingestion, injury on exam, positive skeletal survey, and positive toxicology testing perfectly predicted CPS referral. In multivariate analyses, unsafe sleep history (84% versus 41%, p<0.001) and caregiver social risk factors (82% versus 31%, p<0.001) were associated with CPT consultation, while caregiver social risk factors (70% versus 34%, p<0.001) and normal medical work-up (53% versus 38%, p=0.050) were associated with CPS referral. Following OHCA, a child maltreatment evaluation may be underutilized with medical decision-making around CPT consultation and CPS referral driven by knowledge of caregiver social risk factors.

CORRELATIVE ASPECTS OF HEADACHE AND REFRACTIVE ANOMALIES IN SCHOOL-AGE CHILDREN

Purpose – to investigate the relationship between headaches and refractive anomalies and to evaluate their clinical significance. Materials and methods The research included 203 children, aged 6 to 17 years, categorized into three age groups. The children underwent comprehensive ophthalmological and neurological evaluations, and the occurrence of headaches was recorded based on The International Classification of Headache Disorders 3rd edition (ICHD-3) criteria. Types of refractive anomalies were identified, and the data were analyzed using statistical methods to determine the relationship between specific types of refractive anomalies and the prevalence of headaches. Results The results revealed a significant correlation between refractive anomalies and headaches, particularly in children with astigmatism. Among children with hypermetropic astigmatism, 54.1% reported experiencing headaches, the highest percentage in this study. Children with hypermetropia had a headache occurrence of 40.6%, while those with myopia had a slightly higher incidence of 42.9%. Overall, astigmatism was the most strongly associated with headaches. Myopic astigmatism is characterized by the presence of this type of headache in 40% of patients, which is comparable to the data on hypermetropia. The study highlights the importance of early diagnosis and treatment of refractive anomalies, as delayed or incorrect vision correction can significantly increase the risk of vision problems and headaches. The findings are consistent with existing literature, highlighting astigmatism as the most significant risk factor for headaches in children with refractive anomalies. Conclusion Early detection and management of refractive errors in children are crucial for preventing headaches and improving their quality of life. Further research is appropriate to explore additional factors that contribute to the occurrence of headaches in this age group. Key words: headache, refractive anomalies, astigmatism

Dry eye disease and morphological changes in the anterior chamber in people with cystic fibrosis.

Cystic fibrosis (CF) is caused by variants in a gene that encodes a protein essential for water and ion transport in the epithelial cells of exocrine organs. Given the possible relationship of this protein and conjunctival and corneal epithelium, the aim of this study was to evaluate ophthalmologic alterations in people with CF. Forty-five people with CF underwent pulmonary evaluation including inflammatory score (IS). These people along with 98 sex-matched controls underwent ophthalmologic evaluation including dry eye disease (DED) testing, corneal topography using Pentacam™ and macular and peripapillary retinal nerve fiber layer (pRNFL) thickness with optical coherence tomography (OCT). The CF group presented a higher percentage of pathologic tear break-up time (T-BUT) (55.6 % vs 25 %, p = 0.001) and Schirmer's test 1 (40 % versus 19.4 %, p = 0.009) than the control group. In the CF group, an inverse correlation was observed between T-BUT and IS (r=- 0.373, p = 0.012), as well as T-BUT and peripheral eosinophilia (r=-0.338; p = 0.023). People with CF presented lower values of central corneal thickness (p = 0.009), thinnest point (p = 0.006), anterior chamber volume (p = 0.034), and anterior chamber angle (p = 0.011) than the control group and lower pRNLF thickness in the superior temporal sector (p = 0.002). Our findings indicate a higher prevalence of dry eye disease (DED) among people with CF compared to controls. The severity of the condition increases with higher systemic inflammation. Additionally, CF may affect the anterior segment of the eye, leading to a reduction in the nerve fiber layer and early signs of glaucoma.

Post-COVID-19 dry eye negatively impacts the patient's quality of life.

To describe the ophthalmological findings of dry eye disease and its relation to the quality of life of COVID-19 survivors. COVID-19 survivors who had previously been hospitalized at Hospital das Clínicas de Ribeirão Preto complex underwent an ophthalmological evaluation, which included a dry eye disease questionnaire, break-up time, fluorescein staining, and Schirmer test. We collected the presenting and best-corrected visual acuity, sociodemographic data, personal medical history, and scores from a self-reported quality of life questionnaire (WHOQOL-bref). According to the severity of the acute phase of the disease, the patients were classified into mild-to-moderate, severe, and critical groups. Ninety-five patients (190 eyes) were evaluated 100 ± 44 days after the onset of COVID-19 symptoms. Of these, 83 patients (87.3%) completed the WHOQOL-bref questionnaire. Ten patients (12.0%) had mild-to-moderate COVID-19, 41 (49.4%) had severe COVID-19, and 32 (38.6%) had critical COVID-19. The median best-corrected visual acuity was logMAR 0 (0-1). Approximately 26.3% patients had a history of dry eye disease or severe dry eye symptoms (frequent or constant ocular dryness and irritation). There was an association between the proportion of patients with dry eye disease and the quality of life (p=0.014) and health (p=0.001). Furthermore, there was a significant trend between the proportion of patients with dry eye disease and how they rated their health and quality of life (p=0.0004 and 0.0027, respectively. There is a significant negative correlation between the proportion of patients with dry eye disease and their self-reported quality of life.

Use of congenital hypertrophy of the retinal pigment epithelium as a clinical sign of familial adenomatous polyposis.

To evaluate the presence of congenital hypertrophy of the retinal pigment epithelium in a large family affected by familial adenomatous polyposis and identify the causative mutation in the adenomatous polyposis coli gene. Thus, we aimed to determine the significance of congenital hypertrophy of the retinal pigment epithelium as a phenotypic marker of the disease. A family consisting of 95 individuals was evaluated. Among these, 45 individuals were randomly selected by convenience sampling method to undergo ophthalmological evaluation. A funduscopic exam, including slit lamp and indirect ophthalmoscopy, were performed in the selected patients. In those with retinal lesions, a retinography was obtained. The adenomatous polyposis coli gene was sequenced in one affected family member to identify the pathogenic mutation. Once the variant was identified, six undiagnosed family members were tested for the mutation via capillary electrophoresis sequencing. Congenital hypertrophy of the retinal pigment epithelium was observed in 13 (28.9%) of the 45 individuals evaluated. Of these, nine patients were confirmed to have familial adenomatous polyposis (via colonoscopy or molecular testing). However, four patients had not been investigated. Of the 32 (71.1%) family members without the lesion, 14 did not have familial adenomatous polyposis and 18 were yet to be evaluated. The lesions were bilaterally present and exhibited a peculiar fish-tail shape in all the evaluated individuals. Adenomatous polyposis coli gene sequencing revealed a pathogenic variant c.4031del. (Ser1344*), in heterozygosity (49.27%), in exon 16. The study findings confirmed the significance of congenital hypertrophy of the retinal pigment epithelium as a phenotypic marker for familial adenomatous polyposis. Furthermore, it is an effective first-line screening method for at risk family members of such patients. The novel mutation identified in our study participants, which is yet to be described in the literature, causes an aggressive form of the disease.

Impact of coronavirus disease 2019 on the prognosis of mucor mycosis in diabetic patients in Egypt: a comparative multicenter study

Aim The current study was designed to figure out the influence of Corona virus infection (COVID-19) on the course and outcome of mucor mycosis in controlled diabetic Egyptian patients. Patients and methods The presented multicenter study compared retrospectively two groups of diabetic patients with clinically and radiologically documented rhino-orbital-cerebral mucor mycosis. The first group included 20 patients who had COVID-19 infection documented clinically, radiologically, and laboratory at the time of admission to the hospital, while the 22 patients in the second group did not. Full ophthalmological evaluation and necessary medications were offered to all patients, and the decision to exenteration was made and performed when appropriate. Medical conditions like diabetes mellitus and other aspects of mucor mycosis were controlled carefully by specialized consultants, and detailed medical reports for morbidity and mortality were provided. Comparisons of the clinical picture, final visual acuity, exenteration, and mortality/survival rates were done between the two groups. Recovered patients were followed up for 4 months after discharge from the hospital. Results COVID-19 infection in the first group aggravated the clinical picture significantly, especially the soft tissue affection like face swelling (P=0.0047) and worsened the final visual outcome (P=0.047). It also increased the rates of ICU admission, exenteration, and death as compared to the non-COVID group by 6, 15, and 11%, respectively (P&gt;0.05). Conclusion Infection by COVID-19 worsened the course and prognosis of rhino-orbital-cerebral mucor mycosis in controlled diabetic patients in the form of a more aggressive clinical picture, exenteration, and death (although statistically insignificant). It also resulted in poorer visual outcome (in acuities CF to 3/60, P=0.047). Early hospitalization, anti-fungal, and surgical exenteration, if needed, increase the survival rate and decrease morbidity.

Idiopathic epiretinal membrane surgery with internal limiting membrane peeling: An optical coherence tomography angiography analysis of macular capillary plexus changes.

This study aims to assess retinal vascular changes following internal limiting membrane (ILM) peeling for idiopathic epiretinal membrane (ERM) treatment using optical coherence tomography angiography (OCT-A). A retrospective study was conducted. A cohort of thirty-nine patients was enlisted for this study. Each participant underwent comprehensive ophthalmological evaluation and OCT-A imaging at baseline, as well as at 1-month and 6-month intervals post-pars plana vitrectomy with ERM and ILM peeling. Post-surgery, remarkable improvements were observed in best-corrected visual acuity (BCVA) (from 0.335 ± 0.173 to 0.096 ± 0.126 at 6 months), coupled with a notable reduction in central retinal thickness (CRT) (from 460 ± 87 µm to 395 ± 53 µm at 6 months). Additionally, there was a noticeable expansion in the foveal avascular zone (FAZ) perimeter (from 0.099 ± 0.060 mm² to 0.125 ± 0.056 mm² at 6 months). However, there was a decline in vessel density (VD) in the superficial capillary plexus (SCP) (from 46.7 ± 4.4 to 43.8 ± 3.5% at 6 months), contrasted by an elevation in the deep capillary plexus (DCP) (from 45.2 ± 5.5% to 43.6 ± 5.3% at 6 months. Noteworthy correlations were detected between CRT and BCVA, as well as CRT and vascular parameters. ERM instigates a milieu of changes including SCP crowding and elevation, potentially leading to a falsely augmented density at OCT-A in affected patients. Subsequent surgery results in a release of ERM-induced forces, elucidating the observed decrease in SCP density. Conversely, the DCP appears to be less distorted by the ERM, facilitating gradual vessel reopening after its removal. OCTA provides valuable insights into optimal surgical timing.

Carboplatin-induced reversible ptosis

Neurological side effects have been reported with various chemotherapy drugs, especially platinum derivatives. Ptosis is one such complication which is rarely encountered. We report a case of ptosis and its complete recovery, which had a temporal relation to carboplatin, a platinum-based chemotherapeutic agent. A 48-year-old male patient with colon cancer on carboplatin noticed drooping of the right eyelid after the second cycle of treatment, which worsened gradually in three weeks. Detailed ophthalmological and neurological evaluation was carried out, and no significant association was made. Onset of ptosis correlated with treatment of carboplatin and on reviewing existing literature available diagnosis was made. Over the course of four weeks, the ptosis gradually resolved completely once the carboplatin treatment cycle was completed without the need for surgical intervention. This case highlights the importance of identifying carboplatin as the cause of ptosis and the potential of platinum-based compounds leading to neurological effects. Prompt recognition can lead to complete resolution.

Prevalence of Idiopathic Macular Hole in a Specialized Ophthalmological Referral Center: A Retrospective Cross-Sectional Study (2018-2022).

An idiopathic macular hole (IMH) is a foveal opening in the neurosensory retina caused by perifoveal vitreomacular traction and detachment. IMH prevalence varies considerably across populations,highlighting a need for further investigation, especially in underrepresented groups such asHispanics. This retrospective, descriptive, cross-sectional study analyzed IMH prevalence in a Hispanic population over four years. Electronic records of patients were reviewed at a single referral center.All patients aged 18 years and above who presented for a first-time comprehensive ophthalmology evaluation were included. IMH diagnosis was clinically made and confirmed with optical coherence tomography (OCT). Data analysis involved descriptive and inferential statistics, adhering to Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) guidelines. Of 116,655 electronic records analyzed from March 2018 to July 2022, 397 subjects were identified in our analysis. The estimated prevalence of IMH was 0.34% (95% confidence interval (CI): 0.307-0.375), with a female-to-male ratio of 4:1. The mean age of the participants was 67.75 ± 9.38 years.Initial visual acuity, laterality, comorbidities, and clinical findings were assessed.No significant gender differences were documented. Subgroup analyses revealed significant age discrepancies based on comorbidities and clinical symptoms. Our study provides insight into the prevalence of IMHs in a Hispanic population.Its findings are similar to those published for other populations.The observed prevalence emphasizes the importance of proactive screening for IMHs in older patients, especially if they are women. Clinical markers such as the Watzke-Allen sign are helpful in the early detection of IMHs.

Early subclinical macular disease in asymptomatic patients with primary antiphospholipid syndrome: A quantitative multimodal retinal evaluation.

To perform a quantitative multimodal evaluation in 25 patients with primary antiphospholipid syndrome (PAPS) without ocular complaints and to compare them with 25 healthy individuals. A structural and functional ophthalmological evaluation using optical coherence tomography angiography (OCTA) and microperimetry (MP) exam in 25 patients with PAPS, followed at a tertiary rheumatology outpatient clinic, was performed. All ophthalmologic manifestations were documented and subsequent statistical analysis was performed for comparative purposes, with significance set at p < 0.05. We included 100 eyes of 50 subjects (25 patients with PAPS without ocular complaints and 25 healthy individuals). Quantitative OCTA assessment revealed significant differences between PAPS patients and controls in both the superficial vascular complex (SVC) and deep vascular complex (DVC) using high-speed protocol, as well as in the SVC in the high-resolution protocol. Analysis of the foveal avascular zone (FAZ) parameters showed a larger area of FAZ in the DVC in PAPS patients using the high-speed method compared to the control group (p = 0.047). In MP quantitative analysis, the PAPS group exhibited lower central (p = 0.041) and global (p < 0.001) retinal sensitivity compared to the control group, along with sectoral differences, except in the inferior sector. PAPS patients present lower vascular density and retinal sensitivity compared to the control group, even in patients without paracentral acute middle maculopathy (PAMM). Our findings underscore the significance of ocular evaluation beyond symptomatic assessment in these patients.

The phenotypic spectrum of CEP250 gene variants

ABSTRACT Introduction Classically, Usher syndrome is characterized by the association of sensorineural hearing loss (SNHL), retinitis pigmentosa (RP) and possible vestibular dysfunction. Pathogenic bi-allelic variants in CEP250 cause atypical autosomal recessive Usher syndrome, which is associated with SNHL and photoreceptors dysfunction without vestibular signs. To date, only 19 scattered descriptions have been reported. In this study, we present detailed clinical and genetic description of 7 unrelated individuals with CEP250 related disease, along with a literature review to provide new insight on the severity and course of the disease. Methods We retrospectively recruited 7 unrelated individuals who underwent genetic testing (targeted gene panel or whole genome sequencing) and were found to carry CEP250 pathogenic variants. Results Most patients (5/7) exhibit both retinal dystrophy and SNHL. Two patients appear to present either isolated hearing loss or visual impairment, but further investigations are needed to confirm a possible non-syndromic presentation. All patients harbored isolated truncating variants. Discussion CEP250 pathogenic variants are associated with post-lingual SNHL, and most often progressive photoreceptor dysfunction. The disease may begin with ocular features or hearing loss. We strongly recommend genetic analysis of classical and atypical Usher related-genes, in patients with isolated retinal dystrophy or SNHL. We also recommend ophthalmological evaluation and follow-up in patients with isolated SNHL, and conversely. The coexistence of loss- and gain-of-function effects may exist, complicating the development of gene therapy.

Pattern of Ophthalmic Injuries in Patients With Maxillofacial Fractures at a Tertiary Care Centre in Central India.

Maxillofacial injuries are usually associated with ophthalmic injuries that may be mild to severe, and may even result in loss of integrity of the orbital skeleton and impairment of the visual apparatus. To evaluate the pattern of ophthalmic injuries associated with maxillofacial fractures in patients who reported to a tertiary care hospital, associated with a medical college in M.P, India. The records of patients who sustained ophthalmic injuries with maxillofacial trauma from 1st January 2012 to 31st January 2024 and reported to the Department of Dentistry of a tertiary care hospital were evaluated. The data related to demographic characteristics, aetiology of trauma, type of maxillofacial fractures and pattern of ophthalmic injuries were gathered and analysed. A total of 1575 patients with maxillofacial trauma reported to the institute during the study duration. The study sample comprised 1046 (66.41%) maxillofacial trauma patients who sustained ophthalmic injuries. Males were more commonly involved (85.85%) than females (14.15%). The commonly involved age group was 21-30 years with 34.32% of patients belonging to the age group. The most common aetiology was road traffic accidents, reported in 71.89% of patients. Zygomaticomaxillary complex (ZMC) fractures were evident in 73.52%, mandibular fractures in 50.19%, naso-orbito-ethmoidal (NOE) fractures in 19.41% and frontal bone fractures in 18.74% patients. Subconjunctival haemorrhage was seen in 79.83%, periorbital ecchymosis in 72.94% and periorbital oedema in 60.32% of cases. Retrobulbar haemorrhage was seen in 2.58%, traumatic optic neuropathy in 2.01% and retinal detachment in 0.86% of cases. Ophthalmic injuries were seen frequently in 66.41% of cases with maxillofacial trauma, particularly in zygomatic complex fractures (73.52%). The findings emphasise that the competency of maxillofacial surgeons plays a vital role in comprehending the severity and management of post-traumatic ophthalmic consequences in maxillofacial injuries. Also, ophthalmological evaluation in maxillofacial trauma, particularly involving the midface should be considered mandatory.

Risk Factors for Cataracts in Patients with Diabetes Mellitus.

Background: Diabetes mellitus (DM) is one of the most impactful health problems worldwide. It affects ocular health in multiple ways and is one of the leading causes of vision loss. Our study aimed to evaluate the most important systemic risk factors related to the occurrence of cataracts in patients with DM. Method: This study evaluated a final number of 319 participants who were previously diagnosed with DM. For all patients, we retrieved data regarding DM status, metabolic control, demographic and anthropometric indices, and generally associated comorbidities from their medical charts. A comprehensive eye examination was performed on all patients. Results: The main studied risk factors were hypertension, cardiovascular disease (CVD), chronic kidney disease (CKD), diabetic polyneuropathy (DPN), dyslipidemia, and hepatic steatosis, which were present among the entire population. Hypertension (67.6%), DPN (53.3%), and dyslipidemia (46.6%) were highly prevalent in the cataract subgroup, and CKD (p < 0.001) and DPN (p = 0.019) were found to be predictive factors for the probability of cataract occurrence. Ophthalmologic evaluation was used to assess the presence of ocular complications, such as diabetic retinopathy (DR) and diabetic maculopathy. DR reached statistically significant values in the occurence of cataracts. Patients' age and DM-related factors, such as disease duration (p < 0.001) and HbA1c values (p = 0.029), significantly increased the risk of cataracts. Smoking was self-reported by 24.8% of the patients, with a significant impact on the occurrence of cataracts (p = 0.04). Conclusions: Patients with DM who exhibit a longer disease duration and poor glycemic control in conjunction with systemic comorbidities present a higher risk of developing cataracts; consequently, a strict therapeutic approach regarding these risk factors is needed.

Advanced UltraTech approach for distinguishing granulomatous from non-granulomatous corneal endothelial exudates in autoimmune rheumatic anterior uveitis

Background: Anterior uveitis is a common manifestation in individuals with rheumatic conditions such as spondylarthritis, Beh&amp;ccedil;et&amp;rsquo;s syndrome, juvenile idiopathic arthritis, and sarcoidosis. Clinical differentiation between granulomatous and non-granulomatous corneal endothelial exudates is crucial to subsequent diagnosis and treatment. Anterior segment optical coherence tomography (AS-OCT) can ensure an accurate differential diagnosis and appropriate follow-up after local and systemic therapy. Objective: This study aimed to distinguish between granulomatous and non-granulomatous endothelial exudates in patients with anterior uveitis using AS-OCT. Methods: This longitudinal observational study involved 30 patients diagnosed with or suspected of having rheumatic autoimmune disease presenting with anterior uveitis. The study was conducted at the combined Rheumatology and Ophthalmology Clinic, San Marco Hospital, Catania, Italy. All patients underwent slit-lamp examination, which revealed or suspected corneal endothelial exudates. A comprehensive rheumatological and ophthalmological evaluation was also performed. Subsequently, the patients were subjected to AS-OCT using the Optovue Solix device. Results: Granulomatous corneal exudates were identified in 30% of the subjects, with counts ranging from 5 to 20 and sizes varying between 50 and 150 &amp;mu;m. Detailed 3D scans further exhibited the morphology of these exudates. A follow-up of patients after steroid therapy (both topical and systemic) and immunosuppressive treatment demonstrated a progressive reduction in the exudates, ultimately leading to their complete resolution. Conclusion: Use of ophthalmological equipment that allows for simple, rapid, and non-invasive investigations in combination with a multidisciplinary approach, enables appropriate diagnosis and monitoring of therapeutic efficacy in patients with inflammatory ocular conditions presenting with corneal endothelial exudates.

Fluorescein angiography patterns and subretinal hyperreflective material predict subthreshold micropulse laser response in chronic central serous chorioretinopathy

BackgroundTo investigate predictors of navigated subthreshold micropulse laser (SML) treatment in chronic central serous chorioretinopathy (cCSC).MethodsIn this single-center prospective consecutive case series, patients with cCSC were treated with 577 nm SML and followed up for 12 months. A complete ophthalmological evaluation including spectral optical coherence tomography (SD-OCT), fluorescein angiography (FA) and microperimetry (MP) was performed. FA hyperfluorescence patterns and SD-OCT features were investigated.ResultsOverall, 38 eyes from 38 patients affected by cCSC with a mean age of 48.20 ± 5.95 years were included. Thirty-one eyes (81.6%) demonstrated a significant subretinal fluid (SRF) reduction after treatment at 3 months. Complete SRF resolution was achieved by twenty-three patients (60.5%) at 3 months and attained by an additional patient (24 in total, 63.2%) at 6 months. Twenty-two (57.9%) of such individuals were confirmed with no SRF at the end of the follow-up. Best-corrected visual acuity improved significantly and progressively at all timepoints from baseline, in parallel with macular sensitivity (all p: <0.005). Logistic regression analysis revealed that the presence of subretinal hyperreflective material (SHRM, p: 0.044; OR: -0.225; 95% CI: -0.448 - -0.003) and focal hyperfluorescence pattern on FA (p < 0.001; OR: 0.438; 95% CI: 0.196–0.632) predicted poorer and better treatment response, respectively.ConclusionsFA hyperfluorescence pattern and presence of SHRM may predict SML treatment response in cCSC patients.

Craniosynostosis in Siblings, an Extremely Rare Occurrence: A Case Report.

Craniosynostosis (CS) is the premature fusion of skull sutures, with all sutures except the metopic suture typically fusing in adulthood. Premature fusion constrains brain growth, leading to abnormal skull shape and potential neurocognitive or neurological issues, along with syndromic features in some cases. While CS is rare, its occurrence in siblings is exceptionally uncommon and holds significant academic importance. We report a case of CS in siblings: a 13-month-old boy and his five-and-a-half-year-old sister. Neither parent exhibits craniofacial dysmorphism or signs of increased intracranial pressure (ICP). The younger sibling presents with dolichocephaly and normal neurological, cognitive, and motor development, while the elder sibling exhibits proptosis, midface hypoplasia, and normal developmental milestones. Neither sibling displays limb or systemic anomalies. Imaging studies, including multislice plain CT brain with 3D skull reconstruction and MRI, revealed multiple suture closures. The younger sibling has complete sagittal suture closure with partial closure of other sutures, while the elder sibling shows multisutural CS. Ophthalmologic evaluations and developmental assessments excluded increased ICP and systemic issues. Most CS cases follow an autosomal dominant inheritance pattern, making this case particularly significant. CT with 3D skull reconstruction remains the diagnostic gold standard. Management aims to preserve cosmetic appearance and prevent complications from increased ICP. Treatment options range from conservative follow-up to surgical interventions, including endoscopic suturectomy, open craniotomy, and distraction osteogenesis, depending on the presence of neurocognitive issues or elevated ICP. Both siblings currently show normal neurological, cognitive, and motor development without increased ICP, emphasizing the need for ongoing monitoring to identify new developments or recurrence after treatment. Differential diagnoses, such as deformational plagiocephaly, must also be considered in such cases.

Clinical characteristics of Behçet's disease in an Egyptian cohort

Background: Behçet's disease is a multi-systemic vasculitis characterized by recurring lesions in the skin mucosa and sight-threatening uveitis. The aim of the research: This research aimed to investigate the clinical features of Behçet's disease (BD) in individuals residing in Egypt. Patients and methods: 150 individuals with BD were recruited, examined, and put through a skin allergy test, musculoskeletal assessment, laboratory tests, and comprehensive medical history. The disease's activity was evaluated using the Behçet Disease Current Activity Form (BDCAF). Complete ophthalmological evaluation and imaging studies were performed according to the organ involved. Results: Cases were 116 men (77.3%) and 34 women (22.7%) (M: F 3.4:1). Their mean age was 34.05 ± 9.28 years, and the disease duration range was 1–20 years. Oral and genital aphthosis were reported in 86.7% and 82.0%, respectively. Eye affection was observed in 68.7%, mainly in anterior uveitis (35.3%). Vascular manifestations occurred in 58.7%, affecting primarily the venous side (31.3%) in the form of deep venous thrombosis (DVT). 32.7% had joint affection, and the pathergy test was positive for 28%. Central nervous system (CNS), skin lesions, and gastrointestinal tract involvement were the slightest common manifestations observed in 26%, 25.3%, and 7.3%, respectively. Articular manifestations were markedly linked to skin lesions (P = 0.002), and there was a significant predominance of articular manifestations among females (P = 0.042). BDCAF score was significantly related to male gender (P = 0.037), smokers (P &lt; 0.000), those with older age (P = 0.028), delayed age of disease onset (P = 0.025), and additionally those with the eye (P = 0.000) and CNS involvement (P = 0.003). Conclusion: The clinical features of Egyptian Behçet's patients were significantly dominated by mucocutaneous involvement, followed by ocular affection. Articular manifestations were markedly more significant in women. The disease activity score was more remarkable in males, smokers, those of older age, and those with a delayed age of disease onset.

Correlations Between Disability Score, Optical Coherence Tomography and Microperimetry in Patients with Multiple Sclerosis.

To characterize ocular motility disturbances through Microperimetry (MP) in patients with Multiple Sclerosis (MS) trying to detect those capable of influencing the disability to improve the accuracy of assessing visual impact in EDSS scale. MP results were compare with some structural parameters obtained by OCT. Cross-sectional analytical and correlational case-control study approved by Ethical Committee. A total of 82 eyes (41 patients) and 30healthy eyes (15 subjects) were enrolled after informed consent. All participants underwent ophthalmological evaluation with MP and OCT. Variables included MS disease duration, Expanded Disability Status Scale (EDSS) score; in OCT: central macular thickness (CMT), ganglion cell-inner plexiform layer thickness (GCIPL), and peripapillary retinal nerve fiber layer thickness (pRNFL); and in MP: test duration, reaction time, average macular threshold (AT), and 4 fixation stability indexes (P1, P2, BCEA63, BCEA95). MS group showed a significant decrease in GCIPL (p < 0.001) and pRNFL thickness (p < 0.001) compared to the control group. Furthermore, patients demonstrated a longer examination (p < 0.001) and reaction (p < 0.001) times, reduced AT (p < 0.001), more unstable fixation indexes (P1 p <0.004, P2 p = 0.018, BCEA63 p = 0.005 and BCEA95 p = 0.007), measured by MP. In addition, patients with a history of ON (n=16) demonstrated longer examination times in MP (p = 0.049) compared to MS patients without ON, but they were not correlations with OCT measurements, EDSS score correlated with the CMT (p = 0.023, r = -0.25), MP duration (p = 0.043, r = 0.22), and fixation indexes (P1 p = 0.049, r = -0.22, BCEA63 p = 0.041, r = 0.23, BCEA95 p = 0.049, r = 0.22). Our study emphasizes the complementary utility of MP and OCT in assessing MS patients. Additionally, it highlights that using MP for objective measurements of oculomotor dysfunction could improves accuracy in disability assessment on the EDSS scale.

Effect of smoking on meibomian gland among Nepalese population

Purpose of study: To investigate the effects of cigarette smoking on meibomian gland and tear function test. Methods: It was a hospital-based cross-sectional study, which enrolled examined 30 subjects with a smoking history of at least 1 year (study group) alongside 25 healthy non-smokers (control group). Each participant’s symptoms were assessed using the Ocular Surface Disease Index (OSDI) questionnaire. A comprehensive ophthalmological evaluation followed, which included the non-invasive tear breakup time (NITBUT) and Schirmer test (with anesthesia). Additionally, we conducted a detailed analysis of the meibomian glands in both the upper and lower eyelids using meibography, employing the advanced Sirius anterior segment analysis system. Results: Participants in the study group averaged a smoking history of 6.94 ± 6.73 pack years. The mean OSDI score was 36.45 ± 10.60 in the study group, compared to 31.41 ± 8.12 in the control group (P = 0.05). For the NITBUT and Schirmer test, the study group recorded values of 9.54 ± 5.89 seconds and 14.77 ± 9.39 mm, respectively, while the control group showed 9.95 ± 6.15 seconds and 19.08 ± 7.08 mm (P = 0.85 and P = 0.03, respectively). Upper lid meibography revealed a 55.40 ± 10.10% gland loss in the study group, significantly higher than the 46.33 ± 14.70% observed in the control group (P = 0.01). However, no statistically significant difference was found in lower lid meibomian gland loss between the groups, with the study group at 54.08 ± 9.71% and the control group at 51.41 ± 17.24% (P = 0.49). Conclusion: Smoking results in meibomian gland damage which may be a risk factor for dry eye. In cases of ocular surface disorders related to chronic smoking, meibomian gland damage should be taken into consideration.