Diagnostics

Research

15 pages, 2754 KiB

Open AccessArticle

The Influence of Eyelid Position and Environmental Conditions on the Corneal Changes in Early Postmortem Interval: A Prospective, Multicentric OCT Study

by Matteo Nioi, Pietro Emanuele Napoli, Roberto Demontis, Alberto Chighine, Fabio De-Giorgio, Simone Grassi, Vincenzo Scorcia, Maurizio Fossarello and Ernesto d’Aloja

Diagnostics 2022, 12(9), 2169; https://doi.org/10.3390/diagnostics12092169 - 07 Sep 2022

Cited by 2 | Viewed by 1868

Abstract

In the current study, using portable optical coherence tomography, we evaluated 46 corneas of 23 individuals in a multicenter setting during the first 17 h after death. Twenty-three eyes were kept open, and twenty three were kept closed. Furthermore, the experiment was carried [...] Read more.

In the current study, using portable optical coherence tomography, we evaluated 46 corneas of 23 individuals in a multicenter setting during the first 17 h after death. Twenty-three eyes were kept open, and twenty three were kept closed. Furthermore, the experiment was carried out for 12 samples in summer and 11 in winter. Our data show that postmortem corneal alterations largely depend on the phenomena of dehydration (in particular in open eyes) and swelling of the stroma in closed eyes, probably due in the first phase to hypoxia/anoxia and subsequently to the passage by osmosis of the aqueous humor from the anterior chamber to the corneal tissue. Our findings could have significant repercussions in forensic pathology for estimating the postmortem interval and transplantation to optimize the conservation of the tissue before the explant. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

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10 pages, 2184 KiB

Open AccessArticle

Comparison of the Amplitude of Accommodation Measured Using a New-Generation Closed-Field Autorefractor with Conventional Subjective Methods

by Piotr Kanclerz, Karolina Pluta, Hamed Momeni-Moghaddam and Ramin Khoramnia

Diagnostics 2022, 12(3), 568; https://doi.org/10.3390/diagnostics12030568 - 23 Feb 2022

Cited by 4 | Viewed by 1979

Abstract

Purpose: This study aims to compare and assess the agreement of the objective amplitude of accommodation (AA) measured using a new-generation closed-field autorefractor with conventional subjective methods. Methods: In total, 84 healthy individuals with an age range of 19 to 50 years participated [...] Read more.

Purpose: This study aims to compare and assess the agreement of the objective amplitude of accommodation (AA) measured using a new-generation closed-field autorefractor with conventional subjective methods. Methods: In total, 84 healthy individuals with an age range of 19 to 50 years participated in this cross-sectional study. AA was measured objectively with a Nidek autorefractor (AR-1a; Nidek Co., Ltd., Tokyo, Japan) and subjectively using push-up (PU) and minus-lens (ML) methods in a random order. Comparison between different methods was performed using repeated-measures analysis of variance and the Bonferroni test for pairwise comparisons. In addition to the Pearson correlation, the Bland and Altman method and the intraclass correlation coefficient were used to determine the agreement between the three techniques. Only the right-eye results were used for analysis. Results: AA measured using the Nidek autorefractor (3.43 ± 1.94 D) was significantly lower than that measured with PU (7.67 ± 2.38 D; p < 0.001) and ML (7.60 ± 2.81 D; p < 0.001) methods. The difference between the subjective methods was not significant statistically (p = 1.0). The correlation for Nidek measurements and PU and ML methods was moderate (r = 0.5502 and r = 0.6832, respectively), while it was strong when comparing subjective methods (r = 0.7821). The limits of agreement for Nidek vs. PU, Nidek vs. ML, and PU vs. ML methods were −8.28 to −0.23 D, −8.19 to −0.15 D, and −3.38 to 3.51 D, respectively. Conclusions: There was a moderate agreement between AA obtained with subjective methods and objective Nidek measurements. The objective AA measurements obtained with a new Nidek autorefractor were significantly lower than subjective measurements. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

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11 pages, 3726 KiB

Open AccessArticle

Thicker Retinal Nerve Fiber Layer with Age among Schoolchildren: The Hong Kong Children Eye Study

by Xiu-Juan Zhang, Yi-Han Lau, Yu-Meng Wang, Hei-Nga Chan, Poemen P. Chan, Ka-Wai Kam, Patrick Ip, Wei Zhang, Alvin L. Young, Clement C. Tham, Chi-Pui Pang, Li-Jia Chen and Jason C. Yam

Diagnostics 2022, 12(2), 500; https://doi.org/10.3390/diagnostics12020500 - 15 Feb 2022

Cited by 9 | Viewed by 5097

Abstract

This study aims to investigate the effect of age on the peripapillary retinal nerve fiber layer (p-RNFL) thickness among schoolchildren. A total of 4034 children aged 6–8 years old received comprehensive ophthalmological examinations. p-RNFL thickness was measured from a circular scan (⌀ = [...] Read more.

This study aims to investigate the effect of age on the peripapillary retinal nerve fiber layer (p-RNFL) thickness among schoolchildren. A total of 4034 children aged 6–8 years old received comprehensive ophthalmological examinations. p-RNFL thickness was measured from a circular scan (⌀ = 3.4 mm) captured using spectral-domain optical coherence tomography (SD-OCT). Associations between p-RNFL thickness with ocular and systemic factors were determined by multivariate linear regression after adjusting potential confounders using generalized estimating equations (GEE). The mean global p-RNFL thickness was 106.60 ± 9.41 μm (range: 72 to 171 μm) in the right eyes, 105.99 ± 9.30 μm (range: 76 to 163 μm) in the left eyes, and 106.29 ± 9.36 μm (range: 72 to 171 μm) across both eyes. Age was positively correlated with p-RNFL after adjusting for axial length (AL) and confounding factors (β = 0.509; p = 0.001). Upon multivariable analysis, AL was positively associated with temporal p-RNFL thickness (β = 3.186, p < 0.001) but negatively with non-temporal p-RNFL thickness (β = (10.003, −2.294), p < 0.001). Sectoral p-RNFL was the thickest in the inferior temporal region (155.12 ± 19.42 μm, range 68 to 271 μm), followed by the superior temporal region (154.67 ± 19.99 μm, range 32 to 177 μm). To conclude, p-RNFL increased significantly with older age among children 6 to 8 years old in a converse trend compared to adults. Our results provide a reference for interpreting OCT information in children and suggest that stable p-RNFL thickness may not indicate a stable disease status in pediatric patients due to the age effects. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

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11 pages, 1201 KiB

Open AccessArticle

Association of Corneal Biomechanics Properties with Myopia in a Child and a Parent Cohort: Hong Kong Children Eye Study

by Shu-Min Tang, Xiu-Juan Zhang, Marco Yu, Yu-Meng Wang, Carol Y. Cheung, Ka-Wai Kam, Alvin L. Young, Li-Jia Chen, Clement C. Tham, Chi-Pui Pang and Jason C. Yam

Diagnostics 2021, 11(12), 2357; https://doi.org/10.3390/diagnostics11122357 - 14 Dec 2021

Cited by 5 | Viewed by 2027

Abstract

Associations between corneal biomechanics, axial elongation and myopia are important but previous results are conflicting. Our population-based study aimed to investigate factors associated with corneal biomechanics, and their relationships with myopia in children and adults. Data from 3643 children and 1994 parents showed [...] Read more.

Associations between corneal biomechanics, axial elongation and myopia are important but previous results are conflicting. Our population-based study aimed to investigate factors associated with corneal biomechanics, and their relationships with myopia in children and adults. Data from 3643 children and 1994 parents showed that children had smaller deformation amplitudes (DA) than parents (p < 0.001). A larger DA was significantly associated with elongated axial length (AL; children: ß = 0.011; adults: ß = 0.0013), higher corneal curvature (children: ß = 0.0086; adults: ß = 0.0096), older age (children: ß = 0.010; adults: ß = 0.0013), and lower intraocular pressure (IOP; children: ß = −0.029; adults: ß = −0.031) in both cohorts. The coefficient of age for DA in children was larger than in adults (p < 0.001), indicating that the DA change with age in children is faster than in adults. DA was significantly associated with spherical equivalent (p < 0.001) resulting from its correlation with AL and corneal curvature. In conclusion, the cornea is more deformable in adults than in children, whereas corneal deformation amplitude increases faster with age in children than that in adults, along with AL elongation. Longer AL, steeper corneal curvature, older age and smaller IOP correspond to a more deformable cornea. The association between corneal deformation amplitude and refraction was mediated via AL and corneal curvature. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

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15 pages, 4947 KiB

Open AccessArticle

A Trust-Based Methodology to Evaluate Deep Learning Models for Automatic Diagnosis of Ocular Toxoplasmosis from Fundus Images

by Rodrigo Parra, Verena Ojeda, Jose Luis Vázquez Noguera, Miguel García-Torres, Julio César Mello-Román, Cynthia Villalba, Jacques Facon, Federico Divina, Olivia Cardozo, Verónica Elisa Castillo and Ingrid Castro Matto

Diagnostics 2021, 11(11), 1951; https://doi.org/10.3390/diagnostics11111951 - 21 Oct 2021

Cited by 2 | Viewed by 2340

Abstract

In the automatic diagnosis of ocular toxoplasmosis (OT), Deep Learning (DL) has arisen as a powerful and promising approach for diagnosis. However, despite the good performance of the models, decision rules should be interpretable to elicit trust from the medical community. Therefore, the [...] Read more.

In the automatic diagnosis of ocular toxoplasmosis (OT), Deep Learning (DL) has arisen as a powerful and promising approach for diagnosis. However, despite the good performance of the models, decision rules should be interpretable to elicit trust from the medical community. Therefore, the development of an evaluation methodology to assess DL models based on interpretability methods is a challenging task that is necessary to extend the use of AI among clinicians. In this work, we propose a novel methodology to quantify the similarity between the decision rules used by a DL model and an ophthalmologist, based on the assumption that doctors are more likely to trust a prediction that was based on decision rules they can understand. Given an eye fundus image with OT, the proposed methodology compares the segmentation mask of OT lesions labeled by an ophthalmologist with the attribution matrix produced by interpretability methods. Furthermore, an open dataset that includes the eye fundus images and the segmentation masks is shared with the community. The proposal was tested on three different DL architectures. The results suggest that complex models tend to perform worse in terms of likelihood to be trusted while achieving better results in sensitivity and specificity. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

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11 pages, 253 KiB

Open AccessArticle

The Effect of HbA_1c Variability as a Risk Measure for Microangiopathy in Type 1 Diabetes Mellitus

by Pedro Romero-Aroca, Raul Navarro-Gil, Albert Feliu, Aida Valls, Antonio Moreno and Marc Baget-Bernaldiz

Diagnostics 2021, 11(7), 1151; https://doi.org/10.3390/diagnostics11071151 - 24 Jun 2021

Cited by 1 | Viewed by 1549

Abstract

Background: To measure the relationship between variability in HbA_1c and microalbuminuria (MA) and diabetic retinopathy (DR) in the long term. Methods: A prospective case-series study, was conducted on 366 Type 1 Diabetes Mellitus patients with normoalbuminuria and without diabetic retinopathy at inclusion. [...] Read more.

Background: To measure the relationship between variability in HbA_1c and microalbuminuria (MA) and diabetic retinopathy (DR) in the long term. Methods: A prospective case-series study, was conducted on 366 Type 1 Diabetes Mellitus patients with normoalbuminuria and without diabetic retinopathy at inclusion. The cohort was followed for a period of 12 years. The Cox survival analysis was used for the multivariate statistical study. The effect of variability in microangiopathy (retinopathy and nephropathy) was evaluated by calculating the standard deviation of HbA_1c (SD-HbA_1c), the coefficient of variation of HbA_1c (CV-HbA_1c), average real variability (ARV-HbA_1c) and variability irrespective of the mean (VIM-HbA_1c) adjusted for the other known variables. Results: A total of 106 patients developed diabetic retinopathy (29%) and 73 microalbuminuria (19.9%). Overt diabetic nephropathy, by our definition, affected only five patients (1.36%). Statistical results show that the current age, mean HbA_1c, SD-HbA_1c and ARV-HbA_1c are significant in the development of diabetic retinopathy. Microalbuminuria was significant for current age, mean HbA_1c, CV-HbA_1c and ARV-HbA_1c. Conclusions: By measuring the variability in HbA_1c, we can use SD-HbA_1c and ARV-HbA_1c as possible targets for judging which patients are at risk of developing DR and MA, and CV-HbA_1c as the target for severe DR. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

Review

Jump to: Research, Other

31 pages, 24155 KiB

Open AccessReview

Orbital Tumors—Clinical, Radiologic and Histopathologic Correlation

by Daniel Vogele, Nico Sollmann, Annika Beck, Benedikt Haggenmüller, Stefan Andreas Schmidt, Bernd Schmitz, Thomas Kapapa, Yigit Ozpeynirci, Meinrad Beer and Christopher Kloth

Diagnostics 2022, 12(10), 2376; https://doi.org/10.3390/diagnostics12102376 - 30 Sep 2022

Cited by 6 | Viewed by 7479

Abstract

Orbital masses include a broad spectrum of benign and malignant entities. Often these masses are asymptomatic or show a slow growth rate, so that emergence of clinical symptoms is prolonged. In this context, cross-sectional imaging plays an elementary role in the characterization of [...] Read more.

Orbital masses include a broad spectrum of benign and malignant entities. Often these masses are asymptomatic or show a slow growth rate, so that emergence of clinical symptoms is prolonged. In this context, cross-sectional imaging plays an elementary role in the characterization of these lesions. Aside from the characterization of the underlying entity, an evaluation of the involved compartments is possible by sufficient imaging, which also facilitates optimal treatment and surgery planning. The purpose of this review is to explore different benign and malignant orbital tumors and their typical appearance in imaging together with histopathologic findings. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

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10 pages, 1393 KiB

Open AccessReview

Assessment of Orbital Compartment Pressure: A Comprehensive Review

by Tim J. Enz and Markus Tschopp

Diagnostics 2022, 12(6), 1481; https://doi.org/10.3390/diagnostics12061481 - 16 Jun 2022

Cited by 1 | Viewed by 1864

Abstract

The orbit is a closed compartment defined by the orbital bones and the orbital septum. Some diseases of the orbit and the optic nerve are associated with an increased orbital compartment pressure (OCP), e.g., retrobulbar hemorrhage or thyroid eye disease. Our aim was [...] Read more.

The orbit is a closed compartment defined by the orbital bones and the orbital septum. Some diseases of the orbit and the optic nerve are associated with an increased orbital compartment pressure (OCP), e.g., retrobulbar hemorrhage or thyroid eye disease. Our aim was to review the literature on the different approaches to assess OCP. Historically, an assessment of the tissue resistance provoked by the retropulsion of the eye bulb was the method of choice for estimating OCP, either by digital palpation or with specifically designed devices. We found a total of 20 articles reporting direct OCP measurement in animals, cadavers and humans. In nine studies, OCP was directly measured in humans, of which five used a minimally invasive approach. Two groups used experimental/custom devices, whilst the others applied commercially available devices commonly used for monitoring the compartment syndromes of the limbs. None of the nine articles on direct OCP measurements in humans reported complications. Today, OCP is mainly estimated using clinical findings considered surrogates, e.g., elevated intraocular pressure or proptosis. These diagnostic markers appear to reliably indicate elevated OCP. However, particularly minimally invasive approaches show promises for direct OCP measurements. In the future, more sophisticated, specifically designed equipment might allow for even better and safer measurements and hence facilitate the diagnosis and monitoring of orbital diseases. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

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27 pages, 5518 KiB

Open AccessReview

Imaging Modalities Employed in Diabetic Retinopathy Screening: A Review and Meta-Analysis

by Piotr Kanclerz, Raimo Tuuminen and Ramin Khoramnia

Diagnostics 2021, 11(10), 1802; https://doi.org/10.3390/diagnostics11101802 - 29 Sep 2021

Cited by 10 | Viewed by 2706

Abstract

Introduction: Urbanization has caused dramatic changes in lifestyle, and these rapid transitions have led to an increased risk of noncommunicable diseases, such as type 2 diabetes. In terms of cost-effectiveness, screening for diabetic retinopathy is a critical aspect in diabetes management. The aim [...] Read more.

Introduction: Urbanization has caused dramatic changes in lifestyle, and these rapid transitions have led to an increased risk of noncommunicable diseases, such as type 2 diabetes. In terms of cost-effectiveness, screening for diabetic retinopathy is a critical aspect in diabetes management. The aim of this study was to review the imaging modalities employed for retinal examination in diabetic retinopathy screening. Methods: The PubMed and Web of Science databases were the main sources used to investigate the medical literature. An extensive search was performed to identify relevant articles concerning “imaging”, “diabetic retinopathy” and “screening” up to 1 June 2021. Imaging techniques were divided into the following: (i) mydriatic fundus photography, (ii) non-mydriatic fundus photography, (iii) smartphone-based imaging, and (iv) ultrawide-field imaging. A meta-analysis was performed to analyze the performance and technical failure rate of each method. Results: The technical failure rates for mydriatic and non-mydriatic digital fundus photography, smartphone-based and ultrawide-field imaging were 3.4% (95% CI: 2.3–4.6%), 12.1% (95% CI: 5.4–18.7%), 5.3% (95% CI: 1.5–9.0%) and 2.2% (95% CI: 0.3–4.0%), respectively. The rate was significantly different between all analyzed techniques (p < 0.001), and the overall failure rate was 6.6% (4.9–8.3%; I² = 97.2%). The publication bias factor for smartphone-based imaging was significantly higher than for mydriatic digital fundus photography and non-mydriatic digital fundus photography (b = −8.61, b = −2.59 and b = −7.03, respectively; p < 0.001). Ultrawide-field imaging studies were excluded from the final sensitivity/specificity analysis, as the total number of patients included was too small. Conclusions: Regardless of the type of the device used, retinal photographs should be taken on eyes with dilated pupils, unless contraindicated, as this setting decreases the rate of ungradable images. Smartphone-based and ultrawide-field imaging may become potential alternative methods for optimized DR screening; however, there is not yet enough evidence for these techniques to displace mydriatic fundus photography. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

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20 pages, 1695 KiB

Open AccessReview

Flap Thickness and the Risk of Complications in Mechanical Microkeratome and Femtosecond Laser In Situ Keratomileusis: A Literature Review and Statistical Analysis

by Piotr Kanclerz and Ramin Khoramnia

Diagnostics 2021, 11(9), 1588; https://doi.org/10.3390/diagnostics11091588 - 31 Aug 2021

Cited by 8 | Viewed by 2613

Abstract

Introduction: A recent Cochrane review found no difference in visual acuity outcomes between femtosecond-assisted laser in situ keratomileusis (LASIK) and LASIK using mechanical microkeratomes (MMKs). This study compares the flap thickness and risk of complications related to flap creation using femtosecond lasers and [...] Read more.

Introduction: A recent Cochrane review found no difference in visual acuity outcomes between femtosecond-assisted laser in situ keratomileusis (LASIK) and LASIK using mechanical microkeratomes (MMKs). This study compares the flap thickness and risk of complications related to flap creation using femtosecond lasers and MMKs. Methods: PubMed and the Web of Science are used to search the medical literature. An extensive search is performed to identify the flap thickness and complications of LASIK as reported up to 15 July 2021. The following keywords are used in various combinations: Corneal flap, femtosecond laser, laser in situ keratomileusis, laser-assisted in situ keratomileusis, LASIK, mechanical microkeratome. Results: After removing duplicates and irrelevant studies, 122 articles were included for review. Pooled differences for intended vs. postoperative flap thickness using MMKs and femtosecond laser were −4.07 μm (95% CI: −19.55, 3.24 μm) in studies on the MMK and 5.43 μm (95% CI: 2.30, 7.84 μm; p < 0.001), respectively. After removing the studies evaluating outcomes of the old generation Hansatome MMKs (which had a significantly greater variation of flap thickness), the pooled difference for newer MMKs was 4.97 μm (95% CI: 0.35, 9.58 μm; p < 0.001), but the results still favored the femtosecond laser. Uncommon and mild complications unique for the femtosecond LASIK are epithelial gas breakthrough, opaque bubble layer, transient light sensitivity syndrome, and rainbow glare. A single study reported a very low, but stastically different risk of postoperative flap slippage (0.033% for MMK LASIK, and 0.003% for femtosecond LASIK, respectively). Conclusion: In both manual microkeratome and femtosecond LASIK, intra- and postoperative complications were uncommon. The evidence of the superiority of one technique in terms of complications over another cannot be indisputably stated. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

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13 pages, 2592 KiB

Open AccessReview

Current Developments in Corneal Topography and Tomography

by Piotr Kanclerz, Ramin Khoramnia and Xiaogang Wang

Diagnostics 2021, 11(8), 1466; https://doi.org/10.3390/diagnostics11081466 - 13 Aug 2021

Cited by 42 | Viewed by 7941

Abstract

Introduction: Accurate assessment of the corneal shape is important in cataract and refractive surgery, both in screening of candidates as well as for analyzing postoperative outcomes. Although corneal topography and tomography are widely used, it is common that these technologies are confused. The [...] Read more.

Introduction: Accurate assessment of the corneal shape is important in cataract and refractive surgery, both in screening of candidates as well as for analyzing postoperative outcomes. Although corneal topography and tomography are widely used, it is common that these technologies are confused. The aim of this study was to present the current developments of these technologies and particularly distinguish between corneal topography and tomography. Methods: The PubMed, Web of Science and Embase databases were the main resources used to investigate the medical literature. The following keywords were used in various combinations: cornea, corneal, topography, tomography, Scheimpflug, Pentacam, optical coherence tomography. Results: Topography is the study of the shape of the corneal surface, while tomography allows a three-dimensional section of the cornea to be presented. Corneal topographers can be divided into large- and small-cone Placido-based devices, as well as devices with color-LEDs. For corneal tomography, scanning slit or Scheimpflug imaging and optical coherence tomography may be employed. In several devices, corneal topography and tomography have been successfully combined with tear-film analysis, aberrometry, optical biometry and anterior/posterior segment optical coherence tomography. Conclusion: There is a wide variety of imaging techniques to obtain corneal power maps. As different technologies are used, it is imperative that doctors involved in corneal surgery understand the science and clinical application of devices for corneal evaluation in depth. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

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16 pages, 380 KiB

Open AccessReview

A Narrative Review of the Complex Relationship between Pregnancy and Eye Changes

by Nicoleta Anton, Bogdan Doroftei, Ovidiu-Dumitru Ilie, Roxana-Elena Ciuntu, Camelia Margareta Bogdănici and Ionela Nechita-Dumitriu

Diagnostics 2021, 11(8), 1329; https://doi.org/10.3390/diagnostics11081329 - 23 Jul 2021

Cited by 4 | Viewed by 3542

Abstract

Pregnancy is a condition often characterized by changes that occur in different parts of the body. Generally, the eyes suffer several changes during pregnancy that are usually transient but may become permanent at times. This may occur due to the release of placental [...] Read more.

Pregnancy is a condition often characterized by changes that occur in different parts of the body. Generally, the eyes suffer several changes during pregnancy that are usually transient but may become permanent at times. This may occur due to the release of placental hormones and those of maternal endocrine glands and fetal adrenal glands. Due to hormonal influences, physiological ocular changes during pregnancy have been shown in Caucasian women, so corneal sensitivity, refractive status, intraocular pressure, and visual acuity may change during pregnancy. Within this review, all studies that referred to physiological aspects and to changes of ocular pathology of pregnancy, the effect of the pregnancy on pre-existing (diabetic retinopathy, neuro-ophthalmic disorders) eye disorders, postpartum ocular changes, the intraocular pressure and the effect of hypotensive ophthalmic medicine during pregnancy, the connection between pregnancy and the neuro-ophthalmic pathology, as well as the role of anesthesia were analyzed. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

Other

Jump to: Research, Review

10 pages, 9807 KiB

Open AccessCase Report

Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family

by Dorota Pojda-Wilczek, Justyna Wójcik, Bożena Kmak and Maciej Robert Krawczyński

Diagnostics 2022, 12(11), 2701; https://doi.org/10.3390/diagnostics12112701 - 05 Nov 2022

Cited by 2 | Viewed by 2461

Abstract

Leber hereditary optic neuropathy (LHON) is a rare disease with a prevalence of 1 in 25,000 births. LHON usually presents in young males, with painless loss of visual acuity in one or both eyes. Recently an autosomal recessive form of the disease (arLHON [...] Read more.

Leber hereditary optic neuropathy (LHON) is a rare disease with a prevalence of 1 in 25,000 births. LHON usually presents in young males, with painless loss of visual acuity in one or both eyes. Recently an autosomal recessive form of the disease (arLHON or LHONAR) has been described, which is caused by a biallelic mutation in the DNAJC30 gene (usually a missense mutation c.152A>G). The phenotypic and clinical characteristics of patients with arLHON are similar to those of mtLHON, but some differences have been described. Therapy is problematic and challenging. This paper describes clinical and electrophysiological findings in one family (three children and two parents) with arLHON and emphasizes the role of Photopic Negative Response Electroretinography, which provides objective measurement of retinal ganglion cells function. In Leber hereditary optic neuropathy, abnormal retinal ganglion cells function can be found in both eyes, even if visual acuity loss only occurs in one eye. Early clinical diagnosis, confirmed by genetic analysis, may be the key to sight-preserving treatment. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

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8 pages, 1658 KiB

Open AccessCase Report

A Case of Non-Irradiated Balloon Cell Melanoma of the Choroid: Expanding the Morphological Spectrum of Primary Uveal Melanomas

by Maria Failla, Rosario Caltabiano, Antonio Longo, Andrea Russo, Michele Reibaldi, Teresio Avitabile, Eliana Piombino, Cristina Colarossi, Lorenzo Colarossi, Elena Tirrò, Paolo Vigneri, Pietro Valerio Foti and Giuseppe Broggi

Diagnostics 2022, 12(3), 642; https://doi.org/10.3390/diagnostics12030642 - 05 Mar 2022

Cited by 1 | Viewed by 1444

Abstract

Uveal melanoma (UM) is the most common primary intraocular tumor in adults and usually has a very poor prognosis. Histologically, UMs have been classified in epithelioid cell type, spindle cell type, and mixed cell type. Balloon cells are large pale cells that contain [...] Read more.

Uveal melanoma (UM) is the most common primary intraocular tumor in adults and usually has a very poor prognosis. Histologically, UMs have been classified in epithelioid cell type, spindle cell type, and mixed cell type. Balloon cells are large pale cells that contain small, hyperchromatic, central nuclei with vesiculated, clear, and lipid-rich cytoplasm. A balloon cell morphology is infrequently observed in naevi and even less frequently in malignant melanomas of the skin, conjunctiva, ciliary body and choroid. In this regard, UMs that exhibit balloon cell features are generally those previously treated with proton beam irradiation and then enucleated, rather than those that directly underwent primary surgery. To the best of our knowledge, very few cases of primary UM showing extensive balloon cell morphology have been reported in scientific literature to date. We herein present an unusual case of primary UM with diffuse balloon cell changes in a 69-year-old woman. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

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7 pages, 2851 KiB

Open AccessCase Report

Basaloid Follicular Hamartoma of the Eyelid: A Case Report and Literature Review about an Unusual Lesion in the Ocular Region

by Nuno Jorge Lamas, Ana Patrícia Rodrigues, Maria Araújo, José Ramón Vizcaíno and André Coelho

Diagnostics 2022, 12(1), 140; https://doi.org/10.3390/diagnostics12010140 - 07 Jan 2022

Cited by 1 | Viewed by 1898

Abstract

Basaloid follicular hamartoma (BFH) is a normally benign, uncommon, malformative lesion involving the hair follicles, which usually poses challenges in the differential diagnosis with other benign and malignant tumours, especially basal cell carcinoma, due to significant clinical and morphological overlap. Here, we report [...] Read more.

Basaloid follicular hamartoma (BFH) is a normally benign, uncommon, malformative lesion involving the hair follicles, which usually poses challenges in the differential diagnosis with other benign and malignant tumours, especially basal cell carcinoma, due to significant clinical and morphological overlap. Here, we report the case of a 53-year-old male who presented with a mass in the upper left eyelid evolving for one year. The patient had a previous history of total colectomy and an abdominal desmoid tumour within the context of Familial Adenomatous Polyposis (FAP), with a documented germline mutation in the Adenomatous Polyposis Coli (APC) gene. The eyelid lesion was biopsied and the histological analysis of the three small tissue fragments received revealed fragments with cutaneous–conjunctival lining displaying a subepithelial proliferation of basaloid nests with peripheral palisading, compatible with primitive hair follicles. There were images of anastomosis between different basaloid nests, which had their connection to the epithelial lining preserved. The stroma had high cellularity and sometimes primitive mesenchymal papillae were evident. Pleomorphism was absent, mitotic figures were barely identified, and no necrosis was seen. The basaloid nests did not have epithelial–stromal retraction nor mucin deposits. A diagnosis of BFH was proposed, which was later confirmed after surgical excision of the whole eyelid lesion. No evidence of carcinoma was present. This case illustrates the main features of the rare benign eyelid BFH. The standard medical or surgical approach of these lesions remains to be firmly established. Nearly nine months after surgical excision our patient remains well without signs of disease recurrence. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

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6 pages, 10866 KiB

Open AccessCase Report

A Case Report of Pseudoxanthoma Elasticum with Rare Sequence Variants in Genes Related to Inherited Retinal Diseases

by Francesco Demetrio Lofaro, Dario Pasquale Mucciolo, Vittoria Murro, Laura Pavese, Daniela Quaglino and Federica Boraldi

Diagnostics 2021, 11(10), 1800; https://doi.org/10.3390/diagnostics11101800 - 29 Sep 2021

Cited by 1 | Viewed by 1399

Abstract

A case of a patient with an early and severe visual impairment is described. Due to the occurrence of skin papules a suspect of pseudoxanthoma elasticum (PXE) was posed. PXE is a rare autosomal recessive disease clinically characterized by skin, cardiovascular and ocular [...] Read more.

A case of a patient with an early and severe visual impairment is described. Due to the occurrence of skin papules a suspect of pseudoxanthoma elasticum (PXE) was posed. PXE is a rare autosomal recessive disease clinically characterized by skin, cardiovascular and ocular manifestations, these last being those that most severely affect patients’ quality of life. A whole exome sequencing approach focusing on 340 genes related to the calcification process and/or to inherited retinal diseases (IRDs) was performed. Rare monoallelic sequence variants in ABCA4, ABCC6, IMPG1, POC1B and RAX2 were found. The presence of calcified elastic fibers was assessed by ultrastructural analysis on a skin biopsy. Diagnosis of PXE was based on clinical, biomolecular and morphological results, although the additional involvement of several IRD genes is important to explain the unexpectedly severe ophthalmological phenotype of the patient also in prognostic and therapeutic perspectives. Data indicate that genetic screening using a wide-spectrum analysis approach is essential to assist ophthalmologists in improving patient counseling. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

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Open AccessCase Report

Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

by Raffaella Brunetti-Pierri, Marianthi Karali, Francesco Testa, Gerarda Cappuccio, Maria Elena Onore, Francesca Romano, Giuseppe De Rosa, Enrico Tedeschi, Nicola Brunetti-Pierri, Sandro Banfi and Francesca Simonelli

Diagnostics 2021, 11(7), 1218; https://doi.org/10.3390/diagnostics11071218 - 06 Jul 2021

Cited by 3 | Viewed by 2075

Abstract

Pathogenic variants in the MKS1 gene are responsible for a ciliopathy with a wide spectrum of clinical manifestations ranging from Meckel and Joubert syndrome (JBTS) to Bardet-Biedl syndrome, and involving the central nervous system, liver, kidney, skeleton, and retina. We report a 39-year-old [...] Read more.

Pathogenic variants in the MKS1 gene are responsible for a ciliopathy with a wide spectrum of clinical manifestations ranging from Meckel and Joubert syndrome (JBTS) to Bardet-Biedl syndrome, and involving the central nervous system, liver, kidney, skeleton, and retina. We report a 39-year-old male individual presenting with isolated Retinitis Pigmentosa (RP), as assessed by full ophthalmological evaluation including Best-Corrected Visual Acuity measurements, fundus examination, Goldmann Visual Field test, and full-field Electroretinography. A clinical exome identified biallelic nonsense variants in MKS1 that prompted post-genotyping investigations for systemic abnormalities of ciliopathy. Brain magnetic resonance imaging revealed malformations of the posterior cranial fossa with the ‘molar tooth sign’ and cerebellar folia dysplasia, which are both distinctive features of JBTS. No other organ or skeletal abnormalities were detected. This case illustrates the power of clinical exome for the identification of the mildest forms of a disease spectrum, such as a mild JBTS with RP in the presented case of an individual carrying biallelic truncating variants in MKS1. Full article

(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)

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