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Management strategy and novel ophthalmological findings in neonatal severe hypertriglyceridemia: a case report and literature review.
El-Koofy, NM, Abdo, YA, El-Fayoumi, D, Esmael, AF, Elmonem, MA, Ezzeldin, Z
Lipids in health and disease. 2021;(1):38
Abstract
BACKGROUND Neonatal severe hypertriglyceridemia is rarely reported in the literature and there is no consensus for hypertriglyceridemia management at this age group. METHODS The index case is a 4-week-old male infant with severe hypertriglyceridemia accidentally discovered during a circumcision surgery. His clinical and genetic characteristics and his successful management strategy are described. Furthermore, a detailed ophthalmological examination of the proband was conducted at 3 and 6 months of age using Fourier-domain-optical coherence tomography. RESULTS Triglycerides level at presentation was extremely high 33,727 mg/dL (380.8 mmol/L). Two sessions of exchange blood transfusion on two consecutive days successfully reduced triglycerides to 382 mg/dL (4.3 mmol/L) with no adverse effects. The infant was discharged 3 days later. At discharge, the mother was advised to continue breastfeeding together with a medium-chain triglycerides formula. Satisfactory growth parameters and lipid profile values were obtained for a follow-up duration of 5 months with no reported attacks of acute pancreatitis. Lipoprotein lipase deficiency was confirmed by the detection of the LPL homozygous pathogenic variant c.805G > A; p.(Glu269Lys). Early corneal and macular lesions were detected and persisted on follow-up despite relatively good lipemic control. CONCLUSION This case highlights the importance of the early discovery of severe hypertriglyceridemia during the neonatal period, which is needed for prompt management and prevention of severe complications. Rationalized breastfeeding can be tolerated within the diet plan of the disease with satisfactory outcomes. To our knowledge, it is the first study reporting early corneal and macular affection by severe hypertriglyceridemia in a neonate. Prolonged follow-up is needed to determine the extent of ophthalmological lesions.
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Bilateral Hemorrhagic Retinopathy with Roth Spots in Pediatric-Onset Systemic Lupus Erythematosus and Associated Thrombocytopenia: A Case Report and Review of Literature.
Zhang, J, Chen, Y, Yu, Z, Liu, L
Ocular immunology and inflammation. 2018;(8):1150-1153
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Optical Coherence Tomography Assessment Before and After Vitamin Supplementation in a Patient With Vitamin A Deficiency: A Case Report and Literature Review.
Saenz-de-Viteri, M, Sádaba, LM
Medicine. 2016;(6):e2680
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Abstract
Vitamin A is an essential fat-soluble vitamin important for the function of various body systems. In the eye, vitamin A is essential for the synthesis of visual pigments in photoreceptors. Vitamin A deficiency is a rare condition in the developed countries and might follow bariatric or intestinal bypass surgery.We present the case of a 67-year-old male that complained of visual loss and nyctalopia. Patient had bariatric surgery 15 years before for weight loss. Low serum levels of vitamin A confirmed the diagnosis and patient started vitamin A supplementation. Visual fields, macular thickness, and ganglion cell layer thickness were recorded and monitored 1 month, 6 months, and 1 year after the beginning of therapy. Visual fields were significantly altered and central macular thickness and ganglion cell layer thickness were reduced, but the first 2 showed a significant recovery with vitamin supplementation therapy. By the 1st month of treatment patient referred a complete remission of visual symptoms. Further, we observed hyperreflective material accumulating beneath a partially disrupted ellipsoid band in the high definition optical coherence tomography that also improved progressively with vitamin repletion.Newer and more sophisticated imaging systems have increased our knowledge of the mechanisms responsible for retinal diseases. To our knowledge, this is the first description of the effect of vitamin A deficiency and vitamin supplementation on macular thickness. This case also highlights the importance of considering bariatric bypass surgery as a cause of vitamin A deficiency in developed countries.
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MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
Bader, I, Decker, E, Mayr, JA, Lunzer, V, Koch, J, Boltshauser, E, Sperl, W, Pietsch, P, Ertl-Wagner, B, Bolz, H, et al
European journal of medical genetics. 2016;(8):386-91
Abstract
Joubert syndrome (JS) is a clinically and genetically heterogeneous ciliopathy characterized by episodic hyperpnea and apnea, hypotonia, ataxia, cognitive impairment and ocular motor apraxia. The "molar tooth sign" is pathognomonic of this condition. Mutations in the MKS1 gene are a major cause of Meckel-Gruber syndrome (MKS), the most common form of syndromic neural tube defects, frequently resulting in perinatal lethality. We present the phenotype and genotype of a child with severe JS and agenesis of the corpus callosum (ACC). In our patient, a next generation sequencing (NGS) approach revealed the following two variants of the MKS1 gene: first, a novel missense variant [ c.240G > T (p.Trp80Cys)], which affects a residue that is evolutionarily highly conserved in mammals and ciliates; second, a 29 bp deletion in intron 15 [c.1408-35_1408-7del29], a founder mutation, which in a homozygous state constitutes the major cause of MKS in Finland. We review the MKS1-variants in all of the eleven JS patients reported to date and compare these patients to our case. To our knowledge, this is the first patient with Joubert syndrome and agenesis of the corpus callosum where a potentially causal genotype is provided.
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Necrotising herpetic retinopathies: a review and progressive outer retinal necrosis case report.
Ittner, EA, Bhakhri, R, Newman, T
Clinical & experimental optometry. 2016;(1):24-9
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Abstract
Necrotising retinopathies can be visually devastating. Most often associated with the viral family Herpesviridae and seen in both immune-competent and immunocompromised hosts, possible complications of necrotising retinopathies include progressive retinal necrosis with or without macular involvement, optic neuropathy and ultimately, secondary retinal detachment. Examples include progressive outer retinal necrosis, acute retinal necrosis and cytomegaloviral retinitis. If diagnosed early and treated aggressively, visual complications can be prevented; however, there is no current consensus on the most appropriate antiviral regimen for each of the different varieties of necrotising herpetic retinopathy. This paper reviews aspects of varieties of necrotising herpetic retinopathy, including pathophysiology, treatment and diagnostic testing.
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Unilateral cancer-associated retinopathy: a case report.
Javaid, Z, Rehan, SM, Al-Bermani, A, Payne, G
Scottish medical journal. 2016;(3):155-159
Abstract
We write to report a rare case of unilateral cancer-associated retinopathy previously undocumented in the literature. Cancer-associated retinopathy is an uncommon paraneoplastic syndrome. It is characterised by retinal antigen autoantibodies causing rod and cone dysfunction and abnormal electroretinography findings with consequent progressive visual loss.Our patient, known to have a primary cervical intraepithelial neoplasia, presented with unilateral blurred vision as well as a disturbance in colour and night vision. Electroretinography findings of reduced a and b waves in the right eye, together with a fundoscopic appearance of a mottled retinal pigment epithelium, attenuated blood vessels and optic disc pallor were consistent with unilateral cancer-associated retinopathy. Posterior subtenon injections of triamcinolone were administered to control active disease. With periocular steroid injections, at 4 years, our patient's visual acuity remained relatively stable and her condition persisted strictly unilaterally. Cancer-associated retinopathy may be the first presenting sign of an underlying malignancy or may indicate its recurrence. Moreover, in patients with a diagnosed gynaecological malignancy, visual symptoms could reflect cancer-associated retinopathy. In our patient visual symptoms came secondary to the diagnosis of cancer.
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Proliferative diabetic retinopathy in typical retinitis pigmentosa.
Preethi, S, Rajalakshmi, AR
BMJ case reports. 2015
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Abstract
A 39-year-old woman with typical retinitis pigmentosa (RP) for 9 years and a positive family history of night blindness was diagnosed with diabetes mellitus (DM). She developed proliferative diabetic retinopathy (PDR) during the course of disease. She was promptly managed with pan retinal photocoagulation (PRP). PDR developing in a case of typical RP is extremely rare and has not been reported in the literature to date. Recognition of this rare, vision threatening complication, points out a definite need to further look deep into the pathogenesis of diabetic retinopathy.
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Retinal and optic nerve ischemia.
Biousse, V, Newman, N
Continuum (Minneapolis, Minn.). 2014;(4 Neuro-ophthalmology):838-56
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Abstract
PURPOSE OF REVIEW This review focuses on aspects of retinal and optic nerve ischemia that may be encountered by neurologists. RECENT FINDINGS Recent guidelines have emphasized the similarities between cerebral and retinal ischemia in terms of etiologic workup, acute management, and subsequent stroke risk. However, although ischemic optic neuropathies reflect optic nerve ischemia, they result from local small vessel disease and are not associated with a higher risk of cerebral infarction. Their management is therefore very different from acute cerebral ischemia. It is essential to rule out giant cell arteritis in all patients with acute retinal or optic nerve ischemia. SUMMARY Because the eye is vascularized by branches of the internal carotid artery, retinal ischemic symptoms are common in patients with anterior circulation ischemic strokes. Patients with central retinal artery occlusion, whether permanent or transient (responsible for transient visual loss), need to be evaluated and managed emergently similar to patients with cerebral ischemia, while anterior and posterior ischemic optic neuropathy are more concerning for giant cell arteritis.
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Uveitis in a patient treated with Bacille-Calmette-Guérin: possible antigenic mimicry of mycobacterial and retinal antigens.
Garip, A, Diedrichs-Möhring, M, Thurau, SR, Deeg, CA, Wildner, G
Ophthalmology. 2009;(12):2457-62.e1-2
Abstract
PURPOSE To investigate the cellular immune response in uveitis developing after intravesical Bacille-Calmette-Guérin (BCG) applications. DESIGN Experimental study. PARTICIPANTS A 72-year-old HLA-B27-negative patient with bilateral granulomatous anterior uveitis that developed during the third cycle of intravesical BCG applications she was receiving for treatment of bladder carcinoma. METHODS The patient's peripheral T cell reactivity to ocular autoantigens was compared with the response to purified protein derivative (PPD) from Mycobacterium tuberculosis. T-cell proliferation and cytokine and chemokine secretion were measured in vitro. MAIN OUTCOME MEASURES Anterior uveitis was treated successfully with topical corticosteroids and cycloplegics. RESULTS The following were demonstrated: proliferation to PPD, interphotoreceptor retinoid-binding protein (IRBP), and IRBP-peptide R16, as well as secretion of proinflammatory cytokines in response to PPD, retinal soluble antigen (S-Ag), IRBP, cellular retinal-binding protein (CRALBP), and some S-Ag and IRBP peptides. CONCLUSIONS These data indicate the generation of a polyclonal autoimmune reaction elicited by BCG. Amino acid sequence alignments revealed homologies between proteins from M. tuberculosis, BCG, and retinal antigens, suggesting antigenic mimicry as a potential cause of uveitis in this patient.
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Twelve-month safety and visual acuity results from a feasibility study of intraocular, epiretinal radiation therapy for the treatment of subfoveal CNV secondary to AMD.
Avila, MP, Farah, ME, Santos, A, Kapran, Z, Duprat, JP, Woodward, BW, Nau, J
Retina (Philadelphia, Pa.). 2009;(2):157-69
Abstract
PURPOSE The purpose of this study was to evaluate the short-term safety and feasibility of intraocular, epiretinal delivery of beta radiation for the treatment of subfoveal choroidal neovascularization secondary to age-related macular degeneration for 12 months. A 3-year follow-up period is planned to assess the long-term safety of the procedure. METHODS In this nonrandomized, multicenter feasibility study, 34 treatment-naïve patients with predominantly classic, minimally classic, or occult lesions due to subfoveal choroidal neovascularization secondary to age-related macular degeneration received a single treatment with either 15 Gray (Gy) (8 patients) or 24 Gy (26 patients) beta radiation (strontium-90) using a novel intraocular delivery device. Adverse events and safety endpoints were observed and recorded. Visual acuity was measured preoperatively and postoperatively using standard Early Treatment Diabetic Retinopathy Study vision charts. RESULTS Twelve months after treatment, no adverse events associated with exposure to radiation were observed. All patients in both 15 Gy (n = 4) and 24 Gy cohorts (n = 17) who met inclusion criteria and were treated according to protocol lost fewer than three lines of vision. Fifty percent (2/4) of the 15 Gy-treated patients and 76% (13/17) of the 24 Gy-treated patients improved or maintained their visual acuity at 12 months. In the 24 Gy group, 29% (5/17) gained three lines or more in visual acuity. The mean change in visual acuity observed at month 12 was +10.3 letters in the 24 Gy study cohort and -1.0 letters in the 15 Gy cohort. CONCLUSION The short-term safety and efficacy of intraocular, epiretinal delivery of beta radiation for the treatment of subfoveal choroidal neovascularization was promising in this small study group and should be studied in a larger cohort of patients.