Journal of Personalized Medicine

Research

14 pages, 1369 KiB

Open AccessArticle

Two-Year Results of 0.01% Atropine Eye Drops and 0.1% Loading Dose for Myopia Progression Reduction in Danish Children: A Placebo-Controlled, Randomized Clinical Trial

by Niklas Cyril Hansen, Anders Hvid-Hansen, Flemming Møller, Toke Bek, Dorte Ancher Larsen, Nina Jacobsen and Line Kessel

J. Pers. Med. 2024, 14(2), 175; https://doi.org/10.3390/jpm14020175 - 2 Feb 2024

Cited by 1 | Viewed by 1905

Abstract

We investigated the two-year safety and efficacy of 0.1% loading dose and 0.01% low-dose atropine eye drops in Danish children for reduction in myopia progression in an investigator-initiated, placebo-controlled, double-masked, randomized clinical trial. Ninety-seven six- to twelve-year old myopic participants were randomized to [...] Read more.

We investigated the two-year safety and efficacy of 0.1% loading dose and 0.01% low-dose atropine eye drops in Danish children for reduction in myopia progression in an investigator-initiated, placebo-controlled, double-masked, randomized clinical trial. Ninety-seven six- to twelve-year old myopic participants were randomized to 0.1% loading dose for six months and then 0.01% for eighteen months (loading dose group, N = 33), 0.01% for two years (0.01% group, N = 32) or placebo for two years (placebo, N = 32). Axial length (AL) and spherical equivalent refraction (SER) were primary outcomes. Secondary outcomes included adverse events and reactions, choroidal thickness, and other ocular biometrical measures. Outcomes were measured from baseline and at six-month intervals. Individual eyes nested by participant ID were analyzed with linear-mixed model analysis. Data were analyzed with intention-to-treat. Mean AL was 0.08 mm less (95% confidence interval (CI): −0.01; 0.17, p-value = 0.08) in the 0.1% loading dose and 0.10 mm less (95% CI: 0.01; 0.19, p-value = 0.02) in the 0.01% group after two years of treatment compared to placebo. Mean SER progression was 0.12 D (95% CI: −0.10; 0.33) less in the loading dose and 0.26 D (95% CI: 0.04; 0.48) less in the 0.01% groups after two years of treatment compared to placebo (p-value = 0.30 and 0.02, respectively). In total, 17 adverse events were reported in the second-year follow-up, and all were rated as mild. Adjusting for iris color did not affect treatment effect estimates. Intra-ocular pressure increased over two years comparably between all groups but remained within normal limits. Two-year treatment with 0.01% low-dose atropine eye drops is a safe and moderately efficacious intervention in Danish children for reducing myopia progression. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology)

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11 pages, 1324 KiB

Open AccessArticle

Proteome Analysis of Bevacizumab Intervention in Experimental Central Retinal Vein Occlusion

by Lasse Jørgensen Cehofski, Anders Kruse, Mads Odgaard Mæng, Benedict Kjaergaard, Jakob Grauslund, Bent Honoré and Henrik Vorum

J. Pers. Med. 2023, 13(11), 1580; https://doi.org/10.3390/jpm13111580 - 7 Nov 2023

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Abstract

Bevacizumab is a frequently used inhibitor of vascular endothelial growth factor (VEGF) in the management of macular edema in central retinal vein occlusion (CRVO). Studying retinal protein changes in bevacizumab intervention may provide insights into mechanisms of action. In nine Danish Landrace pigs, [...] Read more.

Bevacizumab is a frequently used inhibitor of vascular endothelial growth factor (VEGF) in the management of macular edema in central retinal vein occlusion (CRVO). Studying retinal protein changes in bevacizumab intervention may provide insights into mechanisms of action. In nine Danish Landrace pigs, experimental CRVO was induced in both eyes with argon laser. The right eyes received an intravitreal injection of 0.05 mL bevacizumab (n = 9), while the left control eyes received 0.05 mL saline water (NaCl). Retinal samples were collected 15 days after induced CRVO. Label-free quantification nano-liquid chromatography–tandem mass spectrometry identified 59 proteins that were regulated following bevacizumab treatment. Following bevacizumab intervention, altered levels of bevacizumab components, including the Ig gamma-1 chain C region and the Ig kappa chain C region, were observed. Changes in other significantly regulated proteins ranged between 0.58–1.73, including for the NADH-ubiquinone oxidoreductase chain (fold change = 1.73), protein-transport protein Sec24B (fold change = 1.71), glycerol kinase (fold change = 1.61), guanine-nucleotide-binding protein G(T) subunit-gamma-T1 (fold change = 0.67), and prefoldin subunit 6 (fold change = 0.58). A high retinal concentration of bevacizumab was achieved within 15 days. Changes in the additional proteins were limited, suggesting a narrow mechanism of action. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology)

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8 pages, 241 KiB

Open AccessCommunication

The Role of Obstructive Sleep Apnea in Vision-Threatening Diabetic Retinopathy—A National Register-Based Study

by Shakoor Ba-Ali, Poul Jørgen Jennum, Adam Elias Brøndsted, Steffen Heegaard and Henrik Lund-Andersen

J. Pers. Med. 2023, 13(11), 1529; https://doi.org/10.3390/jpm13111529 - 25 Oct 2023

Viewed by 1642

Abstract

Introduction: we investigated the association between OSA and vision-threatening diabetic retinopathy (VTDR). Methods: we used three nationwide registers to identify subjects with and without OSA and patients with type 1 (T1DM) or type 2 diabetes mellitus (T2DM). The Danish Civil Registration System was [...] Read more.

Introduction: we investigated the association between OSA and vision-threatening diabetic retinopathy (VTDR). Methods: we used three nationwide registers to identify subjects with and without OSA and patients with type 1 (T1DM) or type 2 diabetes mellitus (T2DM). The Danish Civil Registration System was used to link OSA with diabetes diagnosis. The primary outcome was the occurrence of VTDR in diabetic patients with and without OSA. The secondary outcome was the prevalence of diabetes mellitus in patients with and without OSA. Results: we included 532,828 diabetic subjects comprising 13,279 patients with OSA (2.5%) and 519,549 without OSA (97.5%). Diabetic patients with OSA had a 57% lower risk of VTDR compared to diabetic patients without OSA (OR 0.43, 95% CI 0.38–0.50, p < 0.0001). Conclusions: our findings indicate that OSA is associated with a lower risk of VTDR. Since we did not adjust our outcomes for diabetes duration, hypertension control and hemoglobin A1c, future studies are needed to confirm our findings. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology)

13 pages, 2847 KiB

Open AccessArticle

Performance of a Support Vector Machine Learning Tool for Diagnosing Diabetic Retinopathy in Clinical Practice

by Tobias P. H. Nissen, Thomas L. Nørgaard, Katja C. Schielke, Peter Vestergaard, Amar Nikontovic, Malgorzata Dawidowicz, Jakob Grauslund, Henrik Vorum and Kristian Aasbjerg

J. Pers. Med. 2023, 13(7), 1128; https://doi.org/10.3390/jpm13071128 - 12 Jul 2023

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Abstract

Purpose: To examine the real-world performance of a support vector machine learning software (RetinaLyze) in order to identify the possible presence of diabetic retinopathy (DR) in patients with diabetes via software implementation in clinical practice. Methods: 1001 eyes from 1001 patients—one eye per [...] Read more.

Purpose: To examine the real-world performance of a support vector machine learning software (RetinaLyze) in order to identify the possible presence of diabetic retinopathy (DR) in patients with diabetes via software implementation in clinical practice. Methods: 1001 eyes from 1001 patients—one eye per patient—participating in the Danish National Screening Programme were included. Three independent ophthalmologists graded all eyes according to the International Clinical Diabetic Retinopathy Disease Severity Scale with the exact level of disease being determined by majority decision. The software detected DR and no DR and was compared to the ophthalmologists’ gradings. Results: At a clinical chosen threshold, the software showed a sensitivity, specificity, positive predictive value and negative predictive value of 84.9% (95% CI: 81.8–87.9), 89.9% (95% CI: 86.8–92.7), 92.1% (95% CI: 89.7–94.4), and 81.0% (95% CI: 77.2–84.7), respectively, when compared to human grading. The results from the routine screening were 87.0% (95% CI: 84.2–89.7), 85.3% (95% CI: 81.8–88.6), 89.2% (95% CI: 86.3–91.7), and 82.5% (95% CI: 78.5–86.0), respectively. AUC was 93.4%. The reference graders Conger’s Exact Kappa was 0.827. Conclusion: The software performed similarly to routine grading with overlapping confidence intervals, indicating comparable performance between the two groups. The intergrader agreement was satisfactory. However, evaluating the updated software alongside updated clinical procedures is crucial. It is therefore recommended that further clinical testing before implementation of the software as a decision support tool is conducted. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology)

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9 pages, 1470 KiB

Open AccessArticle

Nationwide Analysis of Glaucoma Surgeries in Fiscal Years of 2014 and 2020 in Japan

by Masaki Tanito

J. Pers. Med. 2023, 13(7), 1047; https://doi.org/10.3390/jpm13071047 - 26 Jun 2023

Cited by 2 | Viewed by 1463

Abstract

Nationwide trends in glaucoma surgical procedures were assessed by using the NDB Open Data 2014 and 2020. In Japan, 33,340 non-laser, 54,569 laser, and 88,019 total glaucoma surgeries were performed in 2014. In 2020, 60,108 non-laser, 60,547 laser, and 120,655 total glaucoma surgeries [...] Read more.

Nationwide trends in glaucoma surgical procedures were assessed by using the NDB Open Data 2014 and 2020. In Japan, 33,340 non-laser, 54,569 laser, and 88,019 total glaucoma surgeries were performed in 2014. In 2020, 60,108 non-laser, 60,547 laser, and 120,655 total glaucoma surgeries were performed. The rates from 2014 to 2020 were 180%, 111%, and 137%, respectively. In each procedure, angle surgery (326%), tube shunt surgery (383%), ciliary coagulation (489%), and gonio-laser (225%) were remarkably increased, while iridectomy (75%) and iris laser (77%) decreased during the same period. An increase in laser surgery was seen in young age groups, namely, 55–59 years old and younger, while non-laser surgery was increased in old age groups, namely, 45–49 years old and older. In 2020, 47.6 non-laser, 48.0 laser, and 95.6 total glaucoma surgeries were performed per 100,000 persons. None of the vital statistics, including prefectural population, mean age, and rate of ≥65-year-old people, were significantly associated with the number of glaucoma surgeries. Glaucoma practice patterns changed each time a new device or procedure was introduced. The results of the current study reflected the use of new procedures, such as minimally invasive glaucoma surgery, tube shunt, selective laser trabeculoplasty, and micropulse cyclophotocoagulation. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology)

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9 pages, 241 KiB

Open AccessArticle

Scientific Literature Database Coverage of Randomized Clinical Trials for Central Serous Chorioretinopathy

by Lars C. Boberg-Ans, Oliver N. Klefter, Marie L. R. Rasmussen, Elon H. C. van Dijk and Yousif Subhi

J. Pers. Med. 2023, 13(6), 983; https://doi.org/10.3390/jpm13060983 - 12 Jun 2023

Viewed by 1077

Abstract

Background: Systematic literature searches are the cornerstone of systematic reviews. In this study, we evaluated database coverage of randomized clinical trials for central serous chorioretinopathy (CSC). Methods: We searched 12 databases (BIOSIS Previews, CINAHL, the Cochrane Central, Current Contents Connect, Data Citation Index, [...] Read more.

Background: Systematic literature searches are the cornerstone of systematic reviews. In this study, we evaluated database coverage of randomized clinical trials for central serous chorioretinopathy (CSC). Methods: We searched 12 databases (BIOSIS Previews, CINAHL, the Cochrane Central, Current Contents Connect, Data Citation Index, Derwent Innovations Index, EMBASE, KCI-Korean Journal Database, MEDLINE, PubMed, SciELO Citation Index, and Web of Science Core Collection) on 10 April 2023 for randomized clinical trials for CSC. After identifying all eligible studies across all databases, we investigated the coverage of these studies within each database, including the coverage of any combination of two databases. Results: The 12 databases yielded 848 records for screening, of which 76 were randomized clinical trials for CSC. No single database provided full coverage. The most comprehensive coverage was provided by EMBASE (88%), the Cochrane Central (87%), and PubMed (75%). A combined search in the Cochrane Central and PubMed led to complete coverage (100%) while reducing the number of records for screening from 848 to 279. Conclusions: Systematic review search design should include multiple databases. For randomized clinical trials for CSC, the combination of the Cochrane Central and PubMed provides an excellent balance between coverage and workload. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology)

9 pages, 218 KiB

Open AccessArticle

Positive Prediction Value of Retinal Artery Occlusion Diagnoses in the Danish National Patient Registry: A Validation Study

by Marie Ørskov, Tobias Primdahl Holst Nissen, Henrik Vorum, Torben Bjerregaard Larsen and Flemming Skjøth

J. Pers. Med. 2023, 13(6), 970; https://doi.org/10.3390/jpm13060970 - 8 Jun 2023

Viewed by 1129

Abstract

Purpose: The hospital registration of retinal artery occlusions in the Danish National Patient Registry has not previously been validated. In this study, the diagnosis codes were validated to ensure the diagnoses had an acceptable validity for research. The validation was performed both for [...] Read more.

Purpose: The hospital registration of retinal artery occlusions in the Danish National Patient Registry has not previously been validated. In this study, the diagnosis codes were validated to ensure the diagnoses had an acceptable validity for research. The validation was performed both for the overall diagnosis population and at the subtype diagnosis level. Methods: The medical records for all patients with retinal artery occlusion with an incident hospital record in the years 2017–2019 in Northern Jutland (Denmark) were assessed in this population-based validation study. Furthermore, fundus images and two-person verification were assessed for the included patients when available. The positive prediction values for the overall diagnosis of retinal artery occlusion, as well as for the central or branch subtypes, were calculated. Results: A total of 102 medical records were available for review. The overall positive prediction value for a retinal artery occlusion diagnosis was 79.4% (95% CI: 70.6–86.1%), while the overall positive prediction value at the subtype diagnosis level was 69.6% (95% CI: 60.1–77.7%), with 73.3% (95% CI: 58.1–85.4%) for branch retinal artery occlusion and 71.2% (95% CI: 56.9–82.9%) for central retinal artery occlusion. For the stratified analyses at the subtype diagnosis, age, sex, diagnosis year, and primary or secondary diagnosis, the positive prediction values ranged from 73.5 to 91.7%. In the stratified analyses at the subtype level, the positive prediction values ranged from 63.3 to 83.3%. The differences among the positive prediction values of the individual strata of both analyses were not statistically significant. Conclusions: the validities of the retinal artery occlusion and subtype level diagnoses are comparable to other validated diagnoses and considered acceptable for use in research. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology)

10 pages, 544 KiB

Open AccessArticle

A Useful Method for the Practice of Pneumatic Retinopexy: Slit-Lamp Laser Photocoagulation through the Gas Bubble

by Aslan Aykut, Mehmet Orkun Sevik, Betül Kubat, Volkan Dericioğlu and Özlem Şahin

J. Pers. Med. 2023, 13(5), 741; https://doi.org/10.3390/jpm13050741 - 27 Apr 2023

Cited by 1 | Viewed by 1267

Abstract

This study aimed to demonstrate the laser retinopexy method through the gas bubble under a slit-lamp biomicroscope using a wide-field contact lens to treat rhegmatogenous retinal detachment (RRD) with pneumatic retinopexy (PR) and report its anatomical and functional results. This single-center, retrospective case [...] Read more.

This study aimed to demonstrate the laser retinopexy method through the gas bubble under a slit-lamp biomicroscope using a wide-field contact lens to treat rhegmatogenous retinal detachment (RRD) with pneumatic retinopexy (PR) and report its anatomical and functional results. This single-center, retrospective case series included RRD patients treated with PR using sulfur hexafluoride (SF₆). The demographics, preoperative factors, and anatomical and functional outcomes were collected from the patient files. The single-procedure success rate of PR at postoperative 6th months was 70.8% (17/24 eyes), and the final success rate after secondary surgeries was 100%. The BCVA was better in the successful PR eyes at postoperative 3rd (p = 0.011) and 6th month (p = 0.016) than in failed eyes. No single preoperative factor was associated with PR success. The single-procedure success rate of PR using the laser retinopexy method through the gas bubble with a wide-field contact lens system seems comparable to the PR literature. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology)

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11 pages, 1411 KiB

Open AccessArticle

Anti-VEGF Treatment of Diabetic Macular Edema in Denmark: Incidence, Burden of Therapy, and Forecasting Analyses

by Yousif Subhi, Ivan Potapenko, Javad Nouri Hajari and Morten la Cour

J. Pers. Med. 2023, 13(3), 546; https://doi.org/10.3390/jpm13030546 - 18 Mar 2023

Cited by 3 | Viewed by 1584

Abstract

Background: The aim of this study was to analyze demographically stratified incidence rates of patients with diabetic macular edema (DME) commenced in anti-VEGF therapy, to study temporal trends, to report the proportion of patients in active therapy over time, and to develop a [...] Read more.

Background: The aim of this study was to analyze demographically stratified incidence rates of patients with diabetic macular edema (DME) commenced in anti-VEGF therapy, to study temporal trends, to report the proportion of patients in active therapy over time, and to develop a model to forecast the future number of patients in active treatment. Methods: This was a retrospective registry-based study of all patients with DME who received at least one intravitreal anti-VEGF treatment from 1 January 2007 to 30 June 2022. Population data were extracted from Statistics Denmark. Results: This study included 2220 patients with DME who were commenced in anti-VEGF therapy. Demographic analyses revealed higher incidence rates among males than females and among those aged 60–80 years. The number of patients in active treatment followed an exponential decay curve; hence, this was used to mathematically model the number of patients in active therapy. The number of patients in active treatment is expected to stay relatively stable with a minimal increase until the year 2023. Conclusions: This study provides insight into the practical aspects of the anti-VEGF treatment of DME that allow the planning of adequate health services. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology)

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13 pages, 777 KiB

Open AccessEditor’s ChoiceArticle

Myopia Control with Low-Dose Atropine in European Children: Six-Month Results from a Randomized, Double-Masked, Placebo-Controlled, Multicenter Study

by Anders Hvid-Hansen, Nina Jacobsen, Flemming Møller, Toke Bek, Brice Ozenne and Line Kessel

J. Pers. Med. 2023, 13(2), 325; https://doi.org/10.3390/jpm13020325 - 14 Feb 2023

Cited by 7 | Viewed by 3263

Abstract

The effect and safety of low-dose atropine in myopia control have not been studied in randomized, placebo-controlled trials outside Asia. We investigated the efficacy and safety of 0.1% atropine loading dose and 0.01% atropine compared with a placebo in a European population. Investigator-initiated, [...] Read more.

The effect and safety of low-dose atropine in myopia control have not been studied in randomized, placebo-controlled trials outside Asia. We investigated the efficacy and safety of 0.1% atropine loading dose and 0.01% atropine compared with a placebo in a European population. Investigator-initiated, randomized, double-masked, placebo-controlled, equal-allocation, multicenter study comparing 0.1% atropine loading dose (six months) followed by 0.01% atropine (18 months), 0.01% atropine (24 months), and placebo (24 months). Participants were monitored for a 12-months washout period. Outcome measures were axial length (AL), cycloplegic spherical equivalent (SE), photopic and mesopic pupil size, accommodation amplitude, visual acuity, intraocular pressure (IOP), and adverse reactions and events. We randomized 97 participants (mean [standard deviation] age, 9.4 [1.7] years; 55 girls (57%) and 42 boys (43%)). After six months, AL was 0.13 mm shorter (95% confidence interval [CI], −0.18 to −0.07 [adjusted p < 0.001]) with 0.1% atropine loading dose and 0.06 mm shorter (95% CI, −0.11 to −0.01 [adjusted p = 0.06]) with 0.01% atropine than in the placebo group. We observed similar dose-dependent changes in SE, pupil size, accommodation amplitude, and adverse reactions. No significant differences in visual acuity or IOP were found between groups, and no serious adverse reactions were reported. We found a dose-dependent effect of low-dose atropine in European children without adverse reactions requiring photochromatic or progressive spectacles. Our results are comparable to those observed in East Asia, indicating that results on myopia control with low-dose atropine are generalizable across populations with different racial backgrounds. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology)

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13 pages, 2640 KiB

Open AccessArticle

Reproducibility of Mesopic and Photopic Pupil Sizes in Myopic Children Using a Dedicated Pupillometer with Human-Assisted or Automated Reading

by Anders Hvid-Hansen, Per Bækgaard, Nina Jacobsen, Jesper Hjortdal, Flemming Møller and Line Kessel

J. Pers. Med. 2023, 13(2), 273; https://doi.org/10.3390/jpm13020273 - 31 Jan 2023

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Abstract

This study aimed to investigate the reproducibility of pupil size measurements over time and between reading methods when comparing human-assisted reading to automated reading. Pupillary data were analyzed on a subset of myopic children enrolled in a multicenter randomized clinical trial on myopia [...] Read more.

This study aimed to investigate the reproducibility of pupil size measurements over time and between reading methods when comparing human-assisted reading to automated reading. Pupillary data were analyzed on a subset of myopic children enrolled in a multicenter randomized clinical trial on myopia control with low-dose atropine. Pupil size measurements were obtained prior to randomization at two time points (screening and baseline visits) using a dedicated pupillometer under mesopic and photopic conditions. A customized algorithm was built to perform automated readings, allowing comparisons between human-assisted and automated readings. Reproducibility analyses followed the principles of Bland and Altman and included the calculation of the mean difference between measurements and limits of agreement (LOA). We included 43 children. Mean (standard deviation) age was 9.8 (1.7) years and 25 (58%) children were girls. Using human-assisted readings, reproducibility over time showed mesopic mean difference of 0.02 mm with LOA from −0.87 mm to 0.91 mm, whereas photopic mean difference was −0.01 mm with LOA from −0.25 mm to 0.23 mm. Reproducibility between human-assisted and automated readings was also higher under photopic conditions, with mean difference of 0.03 mm and LOA from −0.03 mm to 0.10 mm at screening and mean difference of 0.03 mm and LOA from −0.06 mm to 0.12 mm at baseline. Using a dedicated pupillometer, we found that examinations performed under photopic conditions demonstrated higher reproducibility over time and between reading methods. We speculate whether mesopic measurements are sufficiently reproducible to be monitored over time. Furthermore, photopic measurements may be of greater relevance when evaluating the side effects of atropine treatment, such as photophobia. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology)

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Review

Jump to: Research, Other

12 pages, 595 KiB

Open AccessReview

Surgical Treatment of Corneal Shield Ulcer in Vernal Keratoconjunctivitis: A Systematic Review

by Samim Azizi, Yousif Subhi and Marie Louise Roed Rasmussen

J. Pers. Med. 2023, 13(7), 1092; https://doi.org/10.3390/jpm13071092 - 2 Jul 2023

Cited by 2 | Viewed by 2805

Abstract

Background: Vernal keratoconjunctivitis (VKC) severely affects the quality of life of affected patients. The development of a shield ulcer is considered one of the most severe late-stage complications, which when untreated leads to irreversible vision loss. In this systematic review, we outlined the [...] Read more.

Background: Vernal keratoconjunctivitis (VKC) severely affects the quality of life of affected patients. The development of a shield ulcer is considered one of the most severe late-stage complications, which when untreated leads to irreversible vision loss. In this systematic review, we outlined the results of surgical treatments of corneal shield ulcers in VKC. Methods: We searched 12 literature databases on 3 April 2023 for studies of patients with VKC in which shield ulcers were treated by any surgical treatment. Treatment results were reviewed qualitatively. Assessments of the risk of bias of individual studies were made using the Clinical Appraisal Skills Programme. Results: Ten studies with 398 patients with VKC were eligible for the qualitative review. Two categories of surgical approaches were described: supratarsal corticosteroid injection and debridement with or without amniotic membrane transplantation. Almost all patients experienced resolution or improvement of their shield ulcers, regardless of treatment modality. Time to healing was faster with surgical debridement. A small proportion experienced recurrence and side effects. Conclusions: Surgical treatment for shield ulcers in VKC seems highly effective, but careful post-operative treatment and follow-ups are necessary due to the risk of recurrence and potential side effects. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology)

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Other

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10 pages, 1403 KiB

Open AccessCase Report

Aicardi–Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation

by Marta Świerczyńska, Agnieszka Tronina and Erita Filipek

J. Pers. Med. 2023, 13(11), 1609; https://doi.org/10.3390/jpm13111609 - 15 Nov 2023

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Abstract

Background: Aicardi–Goutières syndrome (AGS) is a rare genetic disorder characterized by microcephaly, white matter lesions, numerous intracranial calcifications, chilblain skin lesions and high levels of interferon-α (IFN-α) in the cerebrospinal fluid (CSF). However, ocular involvement is reported significantly less frequently. Case presentation: We [...] Read more.

Background: Aicardi–Goutières syndrome (AGS) is a rare genetic disorder characterized by microcephaly, white matter lesions, numerous intracranial calcifications, chilblain skin lesions and high levels of interferon-α (IFN-α) in the cerebrospinal fluid (CSF). However, ocular involvement is reported significantly less frequently. Case presentation: We present a case of a neonate with hypotrophy, microcephaly, frostbite-like skin lesions, thrombocytopenia, elevated liver enzymes and hepatosplenomegaly. Magnetic resonance imaging (MRI) of the brain showed multiple foci of calcification, white matter changes, cerebral atrophy, and atrophic dilatation of the ventricular system. The inflammatory parameters were not elevated, and the infectious etiology was excluded. Instead, elevated levels of IFN-α in the serum were detected. Based on the related clinical symptoms, imaging and test findings, the diagnosis of AGS was suspected. Genetic testing revealed two pathogenic mutations, c.490C>T and c.222del (novel mutation), in the three prime repair exonuclease 1 (TREX1) gene, confirming AGS type 1 (AGS1). An ophthalmologic examination of the child at 10 months of age revealed an impaired pupillary response to light, a corneal haze with Haab lines in the right eye (RE), pale optic nerve discs and neuropathy in both eyes (OU). The intraocular pressure (IOP) was 51 mmHg in the RE and 49 in the left eye (LE). The flash visual evoked potential (FVEP) showed prolonged P2 latencies of up to 125% in the LE and reduced amplitudes of up to approximately 10% OU. This girl was diagnosed with congenital glaucoma, and it was managed with a trabeculectomy with a basal iridectomy of OU, resulting in a reduction and stabilization in the IOP to 12 mmHg in the RE and 10 mmHg in the LE without any hypotensive eyedrops. Conclusions: We present the clinical characteristics, electrophysiological and imaging findings, as well as the genetic test results of a patient with AGS1. Our case contributes to the extended ophthalmic involvement of the pathogenic c.490C>T and c.222del mutations in TREX1. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology)

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