Ocular Changes in Cystic Fibrosis: A Review.

Cystic fibrosis (CF), also known as mucoviscidosis, is the most common autosomal recessive genetic disease in the Caucasian population, with an estimated frequency of 1:2000-3000 live births. CF results from the mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene localized in the long arm of chromosome 7. The product of CFTR gene expression is CFTR protein, an adenosine triphosphate (ATP)-binding cassette (ABC) transporter that regulates the transport of chloride ions (Cl-) across the apical cell membrane. Primary manifestations of CF include chronic lung and pancreas function impairment secondary to the production of thick, sticky mucus resulting from dehydrated secretions. It is well known that CF can cause both anterior and posterior ocular abnormalities. Conjunctival and corneal xerosis and dry eye disease symptoms are the most characteristic manifestations in the anterior segment. In contrast, the most typical anatomical and functional changes relating to the posterior segment of the eye include defects in the retinal nerve fiber layer (RNFL), vascular abnormalities, and visual disturbances, such as reduced contrast sensitivity and abnormal dark adaptation. However, the complete background of ophthalmic manifestations in the course of CF has yet to be discovered. This review summarizes the current knowledge regarding ocular changes in cystic fibrosis.

Research status of ocular changes in beta-thalassemia major / 国际眼科杂志(Guoji Yanke Zazhi)

Beta-thalassemia major(β-TM)is an inherited disease caused by a defect in the synthesis of globin. The disease requires long-term blood transfusion and iron chelator treatment, which can cause various secondary changes in the body and eye tissues. Compared with normal peers, β-TM patients will show changes in the eye such as steeper corneal curvature, shallower anterior chamber, increased lens thickness, shorter axial length, and reduced tear secretion. At the same time, nutritional deficiencies and the use of iron chelator drugs will increase the risk of complicated cataract and retinal degeneration, thus affecting the quality of life of β-TM patients.This article combines relevant domestic and foreign literatures to explore and review the changes in the eye of β-TM patients, with a view to providing valuable insights for clinical practice.

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

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.

Ocular changes in nephrotic syndrome patients with preserved renal functions.

BACKGROUND: Optical coherence tomography (OCT) measurements of central choroidal thickness (CCT) and retinal thickness have been proposed as inflammatory indicators for a variety of systemic disorders, particularly those with a vascular component. The relationship between nephrotic syndrome (NS) and visual impairment is not clear. The aim of this study was to evaluate the ocular changes in primary NS patients with preserved renal functions. METHODS: A total of 60 participants (30 NS patients, 30 healthy control subjects) was recruited in this cross-sectional and comparative study. Retinal and choroidal examinations were performed via the spectral domain OCT. Enhanced depth imaging (EDI) mode of the OCT was used for choroidal analysis. RESULTS: Although not statistically significant, CCT was found to be higher in the NS group compared to the control group (p = 0.07). Central foveal thickness (CFT) and retinal arteriolar caliber (RAC) values were statistically significantly lower in the patients with nephrotic syndrome, whereas retinal venular caliber (RVC) and choroidal vascularity index (CVI) values were similar in both groups. RAC and RVC were not statistically significantly correlated with CCT or CFT in both groups (p > 0.05). CONCLUSION: The results of the current study showed a significant difference between the NS group and the control group in terms of some ocular changes (i.e., CFT and RAC). As a result, CCT, CFT and RAC measurements with OCT may be used as a marker of inflammation in NS patients.

Photodermatitis and ocular changes in nine horses after ingestion of wild parsnip (pastinaca sativa).

BACKGROUND: Primary photosensitization rarely occurs in horses and can easily be misinterpreted. Descriptions of the disease in horses after ingestion of parsnip are lacking. The aim of this case series was to describe the dermatological and ocular changes due to photosensitization and to raise awareness of parsnip being a possible aetiologic agent. CASE PRESENTATION: Nine horses from three different stables in Berlin and Brandenburg, Germany, presented variable degrees of erythema, scaling, crusting and necrosis of unpigmented skin at the head and prepuce. Horses were of different breeds with a median age of 15 ± 5.9 years. A mild leukocytosis was diagnosed in 1/9 horses at admission. Analyzed liver enzymes were within the reference ranges in all horses. Ocular changes were diagnosed as follows: blepharitis (3/9), conjunctivitis (7/9), corneal edema without additional signs of keratitis and/or uveitis (2/9), corneal edema with signs of uveitis (1/9) and photophobia (4/9). One horse developed a fluorescein positive corneal erosion. Skin biopsy (1/9) revealed a moderate to severe acute, eosinophilic and lymphocytic dermatitis with dermal edema and vasculitis. All stables housing these patients fed hay from the same distributer. Analyzed hay samples showed high contents of wild parsnip (plants, seeds, roots). Wild parsnip is widespread in Europe and contains furocoumarins, a family of photodynamic pigments, which may cause primary photodermatitis, keratoconjunctivitis and uveitis. Horses were treated according to severity of clinical symptoms systemically with flunixine meglumine (1.1 mg/kg BW 1-2x/day) or prednisolone (1 mg/kg BW 1x/day). Topically, either gentamicin (3x/day), dexamethasone (2-3x/day) and/or atropine (1x/day) were used. Skin care was provided with almond oil or dexpanthenol (2x/day). All horses were kept in a dark environment or were treated with sunscreen and facemasks. Duration of treatment varied from 6-30 days (median 11.3 days). CONCLUSION: Ingestion of wild parsnip (Pastinaca sativa) can induce primary photosensitization with dermatitis and ocular injury in horses. In times of extreme weather, hay may alter in botanical composition, resulting in high amounts of uncharacteristic plants causing novel problems.

Psoriasis beyond the skin: Ophthalmological changes (Review).

Psoriasis is a chronic, immune-mediated inflammatory disease of unknown etiology that may be associated with abnormal T-lymphocyte function. Ocular manifestations associated with psoriasis, particularly artropathic or pustular psoriasis, usually affect men, often during exacerbations of the disease. It has been reported that eye damage tends to occur later compared with cutaneous or joint manifestations, blindness being the most disabling complication. Previous studies have focused on ophthalmic manifestations and identified several etiopathogenic mechanisms. Psoriasis may be associated with eye complications such as lesions of the eyelids, conjunctiva and others, with systemic inflammation being the main contributor. In addition, the treatment used for psoriasis may cause ocular changes. The main ophthalmic manifestations associated with psoriasis are keratoconjunctivitis sicca, blepharitis, conjunctivitis and uveitis. The treatment of uveitis, perceived as one of the most serious eye conditions, is controversial and has yet to be clearly determined. Thus, the aim of the present review was to emphasize the importance of regular eye examination for patients with psoriasis, either those receiving biological treatment or those not receiving treatment, in order to diagnose and manage the disease appropriately.

Ocular manifestations of skin diseases with pathological keratinization abnormalities.

Keratinization means cytodifferentiation of keratinocytes turning into corneocytes in the stratum corneum. Disorders of keratinization (hyperkeratosis, parakeratosis and dyskeratosis) are causing many dermatological diseases, including various types of ichthyoses, pachyonychia congenita, pityriasis rubra pilaris, all subtypes of psoriasis, pityriasis lichenoides, dyskeratosis congenita, leukoplakia and keratosis follicularis, which apart from skin lesions may affect the eye's adnexae causing ectropion, entropion, blepharitis, madarosis, and trichiasis, the ocular surface causing keratitis, conjunctivitis, corneal ulceration and episcleritis, which in turn cause uveitis and various fundoscopic changes (proliferative retinopathy, retinal vasculopathy, macular oedema and birdshot chorioretinopathy). Knowledge of ocular symtoms associated with pathological keratinization is crucial, preventing sight-threatening complications such as corneal perforation, lagophthalmus, phthisis bulbi, retinal neovascularization, retinal vasculopathy and optic nerve atrophy. This review encourages dermatologists to monitor patients for ocular symptoms and encourage ophthalmologists to monitor patients for dermatological symptoms.

Postmortem Ocular Findings in the Optical Coherence Tomography Era: A Proof of Concept Study Based on Six Forensic Cases.

Postmortem analysis of the ocular globe is an important topic for forensic pathology and transplantology. Although crucial elements may be gathered from examining cadaveric eyes, the latter do not routinely undergo in-depth analysis. The paucity of quantitative and objective data that are obtainable using current, invasive necroscopic techniques is the main reason for the limited interest in this highly specialized procedure. The aim of the current study is to describe and to object for the first time the postmortem ocular changes by mean of portable optical coherence tomography for evaluating ocular tissues postmortem. The design involved the postmortem analysis (in situ, and without enucleation) of 12 eyes by portable spectral-domain Optical Coherence Tomography. The scans were performed, in corneal, retinal and angle modality at different intervals: <6 h, 6th, 12th, and 24th hour and after autopsy (25th-72nd hour). The morphological changes in the cornea, sclera, vitreous humor and aqueous humor were easy to explore and objectify in these tissues in first 72 h postmortem. On the other hand, the "in situ" observation of the retina was difficult due to the opacification of the lenses in the first 24 h after death.

Premature Ocular Aging Features in Childhood Acute Lymphoblastic Leukemia Survivors.

Purpose: Childhood cancer survivors (CCS) demonstrate features of premature aging in a multitude of organ systems. The aim of this pilot study is to determine the presence of premature ocular aging features in CCS, specifically childhood acute lymphoblastic leukemia (ALL) survivors. Methods: This prospective case-control study was conducted over a period of 21 months, starting July 2015 till March 2017. A total of 59 childhood ALL survivors who attended the Paediatric Oncology Clinic of University Malaya Medical Centre (UMMC) and 48 age, race, and gender-matched controls went through a series of ocular examinations and tests. Inclusion criteria used to recruit survivors were age above 16 years, history of ALL in childhood, completion of treatment for ALL, and a remission period of at least 5 years. Patients with ocular disease and those who received hematopoietic stem cell transplantation were excluded. The parameters measured were visual acuity, amplitude of accommodation, pupil cycle time (PCT), and tear break-up time (TBUT). Results: Survivors of childhood ALL demonstrated significant differences in amplitude of accommodation, PCT, and TBUT compared to age-matched controls. Survivors had a lower median (interquartile range [IQR]) amplitude of accommodation compared to controls (11.0 D [9.0-13.0] vs. 12.0 D [10.5-15]; p = 0.045). Survivors also showed a longer median (IQR) PCT in comparison to controls (931.00 mseconds (857.00-1063.00) vs. 875.50 mseconds (825.75-966.00); p = 0.024). In addition, median (IQR) TBUT was worse in survivors in comparison to the control group (9 seconds [6-13] vs. 11 seconds [10-15]; p = 0.001). Conclusion: Survivors of childhood ALL demonstrate premature ocular aging features compared to age-matched controls. Thus, survivors may benefit from having ocular examinations as part of their routine late-effects screening to detect age-related ocular morbidities early in its course.

Retino-choroidal changes in patients with acute pancreatitis: A prospective analysis of a novel biomarker.

BACKGROUND: There is paucity of data on ocular changes in acute Pancreatitis (AP). Moreover, subclinical alterations in retina & choroid have not been studied in AP. OBJECTIVE: To prospectively study retino-choroidal changes in AP. METHODS: Sixty patients (mean age 39.07 years; 41 males) with AP were followed up till recovery/death. Baseline slit-lamp examination, choroidal thickness (CT), retinal thickness (RT), choroidal vascularity index (CVI), retinal capillary density index (CDI) and arteriovenous ratio (AVR) were recorded. The patients were divided into two groups - mild (Group A; 5 patients) and moderately severe/severe (Group B; 55 patients) as per revised Atlanta classification. RESULTS: Fundus examination showed mild optic disc edema with retinal hemorrhages in 6 (10%) patients in group B as compared to none in group A (p = 1.00). None of the patients had Purtscher retinopathy. Mean CT (317 ± 56.29 µm) was increased as compared to normal subjects (278.90 ± 57.84 µm, p = 0.003). The mean CVI (0.62 ± 0.04) was decreased as compared to normal (0.66 ± 0.01, p < 0.0001) as was the mean AVR (0.67 ± 0.03 vs. 0.7 ± 0.02, p < 0.0001). However, the mean RT of subjects with AP (239.68 ± 33.76 µm) was not significantly different compared to the normal subjects 253.17 ± 33.67 µm (p=NS). The mean CDI of superficial and deep plexus were comparable between normal and patients with AP. CT, RT, CVI, AVR and CDI were comparable between group A and group B as well as survivors and non-survivors. CONCLUSIONS: Clinically significant ocular changes are seen infrequently in AP. However, subclinical changes in CT, CVI and AVR are observed in patients with AP compared to normal individuals.

Optical coherence tomography in forensic sciences: a review of the literature.

Optical coherence tomography (OCT) is an interferometric imaging technique that has revolutionized clinical ophthalmology since the first half of the 1990's. Despite this approach being successfully employed in ophthalmology and having great potential in forensic cases, its use in different forensic fields appears to be quite limited. In this review we reviewed the scientific literature regarding the application of OCT in forensic science and legal medicine from 1995 to 2019. Our research showed the usefulness of this approach for the study of coronary injuries, postmortem ocular changes, forensic entomology, and several other applications of specific forensic interest (the study of blood stains, fingerprints, and hair bulbs for personal identification, as well as the study of materials found in the crime scene for comparation, or anti-fraud investigation). The creation of specific 'ad hoc' devices and a better knowledge of this type of technology by pathologists will be a fundamental step to continue to develop the use of OCT forensic fields.

Ocular changes during hemodialysis in patients with end-stage renal disease.

BACKGROUND: To explore ocular changes during hemodialysis (HD) in chronic renal failure patients and to determine the effects of different causes of renal failure during HD. METHODS: A total of 90 eyes from 45 end-stage renal disease (ESRD) patients undergoing HD were evaluated in this study. All ophthalmological examinations were conducted within 1 h before and after a single HD session. The HD patients were divided into primary kidney disease (KD), hypertensive KD, diabetic KD (DM-KD) and unknown etiology subgroups according to the primary etiology of renal failure. The statistics of 38 eyes from 19 healthy people were set as normal control. RESULTS: Tear break-up time (TBUT) (P = 0.020), Schirmer's I test results (P = 0.030), anterior chamber depth (ACD) (P = 0.006), lens thickness (LT) (P < 0.001) and choroidal thickness (CHT) (P < 0.001)decreased significantly after a single HD. The retinal nerve fiber layer (RNFL) thickness and average retinal thickness (RT) increased after HD, especially in the nasal inner macula (NIM) subfield (P < 0.001), the inferior inner macula (IIM) subfield (P = 0.004) and the superior outer macula (SOM) subfield (P = 0.012). TBUT, Schirmer's I test, IOP, RT, and CHT were correlated with one or more parameters. All ESRD patients regardless of etiology had the same trend for most parameters during HD, with the exception of the logMAR of BCVA, central corneal thickness, RNFL thickness and CHT. CONCLUSIONS: HD may affect a range of ocular parameters in ESRD patients. Dry eye parameters, RT and CHT exhibited the most obvious changes. Different etiologies tended to have similar trends in ocular parameter changes during HD.

Rapid onset of conjunctivitis associated with overdosing of erlotinib.

WHAT IS KNOWN AND OBJECTIVE: Erlotinib is one of the epidermal growth factor receptor (EGFR) inhibitors and is widely used as a targeted therapy for advanced non-small-cell lung cancer (NSCLC). There are a few reports regarding ocular adverse effects of erlotinib. Herein, we report a case of rapid onset of ocular toxicity associated with overdosing of erlotinib. CASE DESCRIPTION: A 72-year-old male with metastatic NSCLC developed conjunctivitis after accidentally taking erlotinib at a dosage of 300 mg/day for 4 days. Before that, the patient had been taking erlotinib at the prescribed dose of 150 mg/day for 17 days. Erlotinib was discontinued for 7 days, and the conjunctivitis was successfully treated symptomatically. The adverse effect did not recur when he resumed taking erlotinib 150 mg/day, suggesting the ocular change was related to the overdosing of erlotinib. WHAT IS NEW AND CONCLUSION: Awareness and close monitoring of this adverse effect are helpful for doctors and pharmacists to identify inadvertent drug overdose. Patients should be provided comprehensive education before receiving targeted therapy.

Absence of Alzheimer Disease Neuropathologic Changes in Eyes of Subjects With Alzheimer Disease.

Alzheimer disease (AD) is the most common cause of dementia in the elderly, and is characterized by extracellular deposition of ß-amyloid and intracellular accumulation of hyperphosphorylated tau protein in the brain. These pathologic findings are identified postmortem. Various visual deficits in AD have been reported and there have been conflicting reports, through imaging and pathology studies, regarding the presence of changes in the globe that mirror Alzheimer changes in the brain. Moreover, both macular degeneration and glaucoma have been variously characterized as having AD-related features. We examined one or both eyes from 19 autopsy cases, 17 of which had varying degrees of AD-related changes, and 2 of which were age-matched controls. Three cases had glaucoma and 4 had macular degeneration. Immunohistochemistry for tau, ß-amyloid, TDP-43, ubiquitin, and α-synuclein showed no evidence of inclusions, deposits or other protein accumulation in any case, in any part of the globe. This finding suggests that regardless of the severity of changes seen in the brain in AD, there are no similar changes in the globe.

A Case of Stickler`s Syndrome

Stickler`s syndrome is a progressive, connective tissue disease which has an autosomal dominant trait with variable penetrance. Ocular changes include vitreoretinal degenera- tion, retinal pigmentary changes, retinal detachment, chori- oretinal atrophy, cataract and high myopia. Systemically, characteristic facial appearances, musculoskeletal abnormal- ities and hearing loss may be associated. We experienced a sporadic case of Stickler`s syndrome in a neonate and report with a review of the literatures.