DOCSLIB.ORG

Seeing Through Their Eyes: Lived Experiences of People with Retinitis

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Seeing Through Their Eyes: Lived Experiences of People with Retinitis Eye (2017) 31, 741–748 © 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved 0950-222X/17 www.nature.com/eye Seeing through their M Prem Senthil, J Khadka and K Pesudovs CLINICAL STUDY eyes: lived experiences of people with retinitis pigmentosa Abstract Purpose Retinitis pigmentosa (RP) is the Eye (2017) 31, 741–748; doi:10.1038/eye.2016.315; most common retinal degeneration causing published online 13 January 2017 blindness. Although their clinical problems are amenable for the clinical diagnosis, their Introduction day-to-day problems for having to live with the disease are mostly unexplored. This study Retinitis pigmentosa is a group of inherited aims to explore and understand the issues retinal disorders that affects the photoreceptors and impact of people with RP on quality of and the retinal pigmentary epithelium.1 In some life (QoL). disorders the rods are affected first and the cones Methods A qualitative research later (termed rod-cone dystrophy) or the reverse methodology to facilitate the understanding (cone–rod dystrophy). Rod–cone dystrophy is the of the experiences of people with RP was most common form of RP, in which the first carriedout.Datawerecollectedthrough manifestation is night blindness, followed by audio-recorded semi-structured interviews. decreasing visual fields and eventually leading to Thematic analysis occurred through the blindness after several decades. The prevalence of process of line-by-line coding, aggregation, RP is 1 in 3000 to 1 in 5000.2 Majority of the and theme development using the NVivo-10 disorders have a genetic basis3 and involve software. photoreceptor cell death by apoptosis. Retinitis Results Twenty-three interviews were pigmentosa can be inherited as autosomal conducted (mean age = 56 years; females, 14). dominant (30–40%), autosomal recessive (50– We identified five major QoL themes: (1) 60%), or X-liked recessive (5–15%) manner.3–6 The struggle to perform important day-to-day role of oral vitamin A and docosahexaenoic acid tasks; (2) concerns about disease progression, (DHA) in slowing down the degenerative process Discipline of Optometry and 7 disease outcome and personal safety; (3) in typical RP is not well established. However, Vision Science, NHMRC facing a lot of emotional and psychological dietary modification and nutritional supplements Centre for Clinical Eye challenges; (4) experiencing a myriad of may be beneficial for rare syndromic forms of Research, Flinders University visual symptoms; and (5) adopting different RP.8,9 Newer therapeutic modalities for RP of South Australia, Adelaide, South Australia, Australia strategies to cope and manage stressful include gene therapy, cell transplantation, fi 10,11 circumstances. Dif culty in performing neuroprotection and hyperbaric oxygen. Correspondence: important day-to-day tasks was the most Retinitis pigmentosa is a disabling disease that J Khadka, NHMRC Centre prominent QoL issue among these people. is currently incurable. It typically starts at the for Clinical Eye Research, Their major concerns were going blind and early teenage years and progresses to severe Flinders University of South uncertainties about their future. They face a visual impairment during the 4th and the 5th Australia, Adelaide, South Australia 5001, Australia lot of emotional and psychological challenges decade. The classical symptoms of RP include Tel: +61 8 87221 8407; to adapt to the physiological stress associated nyctalopia (night blindness), peripheral visual Fax: +61 8 7221 8399, with the progressive vision loss. However, loss and in advanced cases central visual loss E-mail: jyoti.khadka@ they adopt several coping strategies to and photopsia (seeing flashes of light). Apart flinders.edu.au manage the stressful circumstances. from the classical symptoms, people with RP Conclusions People with RP experience a exhibit difficulty adjusting to changing levels of Received: 15 September 2016 fi 12 myriad of QoL issues. Despite all the illumination, dif culty seeing in poor contrast, Accepted in revised form: 13,14 hardship, they remain optimistic and learn to abnormal temporal processing, and motion 2 December 2016; accept their eye condition and move on perception anomalies.15 All these difficulties Published online: in life. along with the progressive visual loss can have a 13 January 2017 Quality of life impact in retinitis pigmentosa M Prem Senthil et al 742 serious impact on quality of life (QoL) of an individual across the transcripts.17 This exercise helped us to identify with RP. Even though these problems are identified key threads. These key threads were then re-assessed by clinically, limited research has been conducted to the authors to come to a decision whether they qualify to understand the impact on day-to-day life of people with form a theme. Any discrepancies between the authors RP from their perspectives. A well-conducted qualitative were resolved by discussion. New or improved themes study is essential to understand the patient’s experience of that emerged from later transcripts were incorporated living with RP. Hence, the aim of this study was to into the coding hierarchy, and earlier transcripts were explore the issues and impact of people with RP on QoL. updated to reflect the modification. The computer program QSR NVivo 10 (QSR International Pty Ltd) was Materials and methods used to code the transcripts systematically. Twenty-three participants with RP were recruited through a nonprobability, convenience sampling Rigor techniques. Participants were recruited from the Royal Several identified strategies were used to enhance the Society for the Blind (Adelaide) and Retina Australia trustworthiness of this study including credibility, Society (Queensland, Western Australia, Victoria, New transferability, dependability, and confirmability. fl South Wales, and Canberra) through emails and yers. Credibility was achieved through adoption of systematic, Participants who responded to the email request and the in-depth field work and triangulation of time and space fl yers were sent out a research pack consisting of an (various times of the day, week, and year were used in the invitation letter, participant information sheet, consent collection of the data and use of multi-sites for participant form and demographic form in the post. Upon receiving recruitments). Transferability was achieved through the consent form, participants were contacted through description of the clinical context of the study and telephone to organise a date and time for an interview. description of the demographics of the participants. A semi-structured interview guide was developed from Dependability was achieved through in-depth description existing literature and expert consultation and it was of the methodology and confirmability was achieved validated by a panel of experts. The interviews were through the recognition of shortcomings in study’s carried out over the telephone. All the interviews method and their potential effects. occurred between August 2014 and June 2015. All interviews were audio recorded and transcribed. Interviews were carried out till thematic saturation (no Results additional new information arising) was obtained. A total of 23 interviews were conducted (mean age = 55.6 An ethical approval was obtained from the Southern years (SD = 14.3); range = 28 to 81 years; females, 14). Adelaide Clinical Human Research Ethics Committee and Two-thirds of the participants were above the age of 50 the corresponding ethics committees at health care facilities and the study adheres to the Tenets of years and all the participants had bilateral disease Declaration of Helsinki. (Table 1). The mean age of onset of the disease was 18.8 years (SD = 11.8) and the mean duration of the disease was 38.9 years (SD = 14.7). We identified five major QoL Data analysis themes: (1) struggle to perform important day-to-day We used an inductive approach where the content of the tasks (activity limitation); (2) concerns about disease data directed the coding and the theme development progression disease outcome and personal safety (health (data-driven).16 Nodes (words or phrases) to code text concerns); (3) facing a lot of emotional and psychological segments were generated after scan reading individual challenges (emotional well-being); (4) experiencing a transcripts. The nodes bear meaning of the text segments myriad of visual symptoms (symptoms) and (5) adopting to be coded by them as close as possible. For this, we different strategies to manage stressful circumstances carried out an open coding strategy which entailed line- (coping; Figure 1) by-line coding approach. Each transcript was coded using the nodes in its entirety. Once the coding was complete, Struggle to perform important day-to-day tasks (activity individual nodes were reorganized by assimilating them limitation) into different categories (that is, nodes of similar concept were brought under the umbrella of a mother node Participants with RP frequently reported difficulty in (potential major theme)). The mother nodes with performing important day-to-day tasks such as reading, component child nodes (potential sub-themes) were seeing in changing light conditions, shopping, driving, explored to identify linkage between similar patterns playing sports, taking part in leisure activities and doing Eye Quality of life impact in retinitis pigmentosa M Prem Senthil et al 743 Table 1 Sociodemographic details of the study sample Variable n = 23 Age (years, n (%)) ≤ 55 10(43) Range 28 to 81 Mean
Load more

Recommended publications
  • Vision Rehabi I Itation for Patients with Age Related Macular Degeneration
    Vision rehabi I itation for GARY S. RUBIN patients with age­ related macular degeneration Epidemiology of low vision The over-representation of macular degeneration patients in the low-vision clinic is The epidemiology of vision impairment is dealt reflected in the chief complaints of those with in detail elsewhere.1 However, there is one referred for rehabilitation. A study of 1000 particularly salient factor that bears emphasis. consecutive patients seen at the Wilmer Low The prevalence of vision impairment increases Vision clinic indicated that 64% listed 'reading' dramatically with advancing age. Statistics as their chief complaint, while other activities compiled in the UK by the Royal National were identified by fewer than 8% of patients. Institute for the Blind2 indicate that there were Undoubtedly the bias towards reading approximately 1.1 million blind or partially problems results partly from the nature of the sighted persons in 1996, of whom 82% were 65 low-vision services offered. Those served by a years of age or older. Thus it is not surprising to community-based programme that includes learn that the major causes of vision impairment home visits might be more likely to report are age-related eye diseases. Fig. 1 illustrates the problems with activities of daily living, while a distribution of causes of vision impairment blind rehabilitation centre would be more likely 5 from three recent studies?- Approximately to address mobility issues. Nevertheless, most equal percentages are attributed to macular macular degeneration patients are referred to degeneration and cataract, with smaller hospital or optometry clinic services, and as percentages for glaucoma, diabetic retinopathy their overwhelming concern is with reading, and optic neuropathies.
    [Show full text]
  • Masqueraders of Age-Related Macular Degeneration
    COVER STORY Masqueraders of Age-related Macular Degeneration A number of inherited retinal diseases phenocopy AMD. BY RONY GELMAN, MD, MS; AND STEPHEN H. TSANG, MD, PHD ge-related macular degeneration (AMD) is a leading cause of central visual loss among the elderly population in the developed world. The Currently, there are no published A non-neovascular form is characterized by mac- guidelines to prognosticate ular drusen and other abnormalities of the retinal pigment epithelium (RPE) such as geographic atrophy (GA) and Stargardt macular degeneration. hyperpigmented areas in the macula. The neovascular form is heralded by choroidal neovascularization (CNV), with subsequent development of disciform scarring. ABCA4 defect heterozygote carrier may be as high as This article reviews the pathologic and diagnostic char- one in 20.11,12 An estimated 600 disease-causing muta- acteristics of inherited diseases that may masquerade as tions in the ABCA4 gene exist, of which the three most AMD. The review is organized by the following patterns common mutations account for less than 10% of the of inheritance: autosomal recessive (Stargardt disease and disease phenotypes.13 cone dystrophy); autosomal dominant (cone dystrophy, The underlying pathology of disease in STGD involves adult vitelliform dystrophy, pattern dystrophy, North accumulation of lipofuscin in the RPE through a process Carolina macular dystrophy, Doyne honeycomb dystro- of disc shedding and phagocytosis.14,15 Lipofuscin is toxic phy, and Sorsby macular dystrophy); X-linked (X-linked to the RPE; furthermore, A2E, a component of lipofuscin, retinoschisis); and mitochondrial (maternally inherited causes inhibition of 11-cis retinal regeneration16 and diabetes and deafness). complement activation.
    [Show full text]
  • Symptoms of Age Related Macular Degeneration
    WHAT IS MACULAR DEGENERATION? wavy or crooked, visual distortions, doorway and the choroid are interrupted causing waste or street signs seem bowed, or objects may deposits to form. Lacking proper nutrients, the light- Age related macular degeneration (AMD) is appear smaller or farther away than they sensitive cells of the macula become damaged. a disease that may either suddenly or gradually should, decrease in or loss of central vision, and The damaged cells can no longer send normal destroy the macula’s ability to maintain sharp, a central blurry spot. signals from the macula through the optic nerve to central vision. Interestingly, one’s peripheral or DRY: Progression with dry AMD is typically slower your brain, and consequently your vision becomes side vision remains unaffected. AMD is the leading de-gradation of central vision: need for increasingly blurred cause of “legal blindness” in the United States for bright illumination for reading or near work, diffi culty In either form of AMD, your vision may remain fi ne persons over 65 years of age. AMD is present in adapting to low levels of illumination, worsening blur in one eye up to several years even while the other approximately 10 percent of the population over of printed words, decreased intensity or brightness of eye’s vision has degraded. Most patients don’t the age of 52 and in up to 33 percent of individuals colors, diffi culty recognizing faces, gradual increase realize that one eye’s vision has been severely older than 75. The macula allows alone gives us the in the haziness of overall vision, and a profound drop reduced because your brain compensates the bad ability to have: sharp vision, clear vision, color vision, in your central vision acuity.
    [Show full text]
  • Cytomegalovirus Retinitis: a Manifestation of the Acquired Immune Deficiency Syndrome (AIDS)*
    Br J Ophthalmol: first published as 10.1136/bjo.67.6.372 on 1 June 1983. Downloaded from British Journal ofOphthalmology, 1983, 67, 372-380 Cytomegalovirus retinitis: a manifestation of the acquired immune deficiency syndrome (AIDS)* ALAN H. FRIEDMAN,' JUAN ORELLANA,'2 WILLIAM R. FREEMAN,3 MAURICE H. LUNTZ,2 MICHAEL B. STARR,3 MICHAEL L. TAPPER,4 ILYA SPIGLAND,s HEIDRUN ROTTERDAM,' RICARDO MESA TEJADA,8 SUSAN BRAUNHUT,8 DONNA MILDVAN,6 AND USHA MATHUR6 From the 2Departments ofOphthalmology and 6Medicine (Infectious Disease), Beth Israel Medical Center; 3Ophthalmology, "Medicine (Infectious Disease), and 'Pathology, Lenox Hill Hospital; 'Ophthalmology, Mount Sinai School ofMedicine; 'Division of Virology, Montefiore Hospital and Medical Center; and the 8Institute for Cancer Research, Columbia University College ofPhysicians and Surgeons, New York, USA SUMMARY Two homosexual males with the 'gay bowel syndrome' experienced an acute unilateral loss of vision. Both patients had white intraretinal lesions, which became confluent. One of the cases had a depressed cell-mediated immunity; both patients ultimately died after a prolonged illness. In one patient cytomegalovirus was cultured from a vitreous biopsy. Autopsy revealed disseminated cytomegalovirus in both patients. Widespread retinal necrosis was evident, with typical nuclear and cytoplasmic inclusions of cytomegalovirus. Electron microscopy showed herpes virus, while immunoperoxidase techniques showed cytomegalovirus. The altered cell-mediated response present in homosexual patients may be responsible for the clinical syndromes of Kaposi's sarcoma and opportunistic infection by Pneumocystis carinii, herpes simplex, or cytomegalovirus. http://bjo.bmj.com/ Retinal involvement in adult cytomegalic inclusion manifestations of the syndrome include the 'gay disease (CID) is usually associated with the con- bowel syndrome9 and Kaposi's sarcoma.
    [Show full text]
  • Macular Degeneration
    DRIVEWELL Driving When You Have Macular Degeneration You have been a safe driver for years. For you, driving means freedom and control. As you get older, changes in your physical and mental health can affect how safely you drive. Macular degeneration (also known as age-related macular degeneration) damages the macula, a spot near the center of the retina (light-sensitive inner lining of the eyeball). It is a common eye problem among older drivers that makes it hard to drive safely. Age-related macular degeneration is the leading cause of new cases of blindness in people 65 and older. If you have macular degeneration, you may not notice any signs in the early stages. You may not know you have this condition until you lose your peripheral vision (what you see out of the corner of your eyes). In time it will affect your central vision, causing a dark or empty area in the center of your vision. How Can Macular Degeneration Affect the Way I Drive? • Your central vision may be dull and blurry. This can lead to loss of sharp vision. • You may not see the road, street signs, lane markers, and even people and bicyclists in the road. • You may need more bright light to see up close. • Colors may look less vivid or bright. • You may have trouble when you go from bright light to low light. • You may not be able to recognize people’s faces. What Should I Do if I Have Any of These Signs? As soon as you notice any of these warning signs: • Tell your family or someone close to you, especially if you have a family history of macular degeneration or have changes in your central vision.
    [Show full text]
  • Genetic Defects of CHM and Visual Acuity Outcome in 24 Choroideremia
    www.nature.com/scientificreports OPEN Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families Takaaki Hayashi1,2*, Shuhei Kameya3, Kei Mizobuchi2, Daiki Kubota3, Sachiko Kikuchi3, Kazutoshi Yoshitake4, Atsushi Mizota5, Akira Murakami6, Takeshi Iwata4 & Tadashi Nakano2 Choroideremia (CHM) is an incurable progressive chorioretinal dystrophy. Little is known about the natural disease course of visual acuity in the Japanese population. We aimed to investigate the genetic spectrum of the CHM gene and visual acuity outcomes in 24 CHM patients from 16 Japanese families. We measured decimal best-corrected visual acuity (BCVA) at presentation and follow-up, converted to logMAR units for statistical analysis. Sanger and/or whole-exome sequencing were performed to identify pathogenic CHM variants/deletions. The median age at presentation was 37.0 years (range, 5–76 years). The mean follow-up interval was 8.2 years. BCVA of the better-seeing eye at presentation was signifcantly worsened with increasing age (r = 0.515, p < 0.01), with a high rate of BCVA decline in patients > 40 years old. A Kaplan–Meier survival curve suggested that a BCVA of Snellen equivalent 20/40 at follow-up remains until the ffties. Fourteen pathogenic variants, 6 of which were novel [c.49 + 5G > A, c.116 + 5G > A, p.(Gly176Glu, Glu177Ter), p.Tyr531Ter, an exon 2 deletion, and a 5.0-Mb deletion], were identifed in 15 families. No variant was found in one family only. Our BCVA outcome data are useful for predicting visual prognosis and determining the timing of intervention in Japanese patients with CHM variants.
    [Show full text]
  • Visual Performance of Scleral Lenses and Their Impact on Quality of Life In
    A RQUIVOS B RASILEIROS DE ORIGINAL ARTICLE Visual performance of scleral lenses and their impact on quality of life in patients with irregular corneas Desempenho visual das lentes esclerais e seu impacto na qualidade de vida de pacientes com córneas irregulares Dilay Ozek1, Ozlem Evren Kemer1, Pinar Altiaylik2 1. Department of Ophthalmology, Ankara Numune Education and Research Hospital, Ankara, Turkey. 2. Department of Ophthalmology, Ufuk University Faculty of Medicine, Ankara, Turkey. ABSTRACT | Purpose: We aimed to evaluate the visual quality CCS with scleral contact lenses were 0.97 ± 0.12 (0.30-1.65), 1.16 performance of scleral contact lenses in patients with kerato- ± 0.51 (0.30-1.80), and 1.51 ± 0.25 (0.90-1.80), respectively. conus, pellucid marginal degeneration, and post-keratoplasty Significantly higher contrast sensitivity levels were recorded astigmatism, and their impact on quality of life. Methods: with scleral contact lenses compared with those recorded with We included 40 patients (58 eyes) with keratoconus, pellucid uncorrected contrast sensitivity and spectacle-corrected contrast marginal degeneration, and post-keratoplasty astigmatism who sensitivity (p<0.05). We found the National Eye Institute Visual were examined between October 2014 and June 2017 and Functioning Questionnaire overall score for patients with scleral fitted with scleral contact lenses in this study. Before fitting contact lens treatment to be significantly higher compared with scleral contact lenses, we noted refraction, uncorrected dis- that for patients with uncorrected sight (p<0.05). Conclusion: tance visual acuity, spectacle-corrected distance visual acuity, Scleral contact lenses are an effective alternative visual correction uncorrected contrast sensitivity, and spectacle-corrected contrast method for keratoconus, pellucid marginal degeneration, and sensitivity.
    [Show full text]
  • Retinitis Pigmentosa Precision Panel Overview Indications Clinical
    Retinitis Pigmentosa Precision Panel Overview Retinitis Pigmentosa (RP) comprises a complex group of inherited dystrophies characterized by degeneration and dysfunction of the retina, affecting photoreceptor and pigment epithelial function. RP can be an isolated finding or be part of a syndrome that can be inherited in a dominant, recessive or X-linked pattern. This disease presents as progressive loss of night and peripheral vision, leading to a constricted visual field and markedly diminished vision. The clinical presentation of these findings is highly variable, some patients being affected during childhood while others are asymptomatic well into adulthood. There is an increase in mortality rate due to psychiatric comorbidities. The Igenomix Retinitis Pigmentosa Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of blindness ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. Indications The Igenomix Retinitis Pigmentosa Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations: - Family history of RP - Night blindness - Progressive constriction of the visual field, usually peripheral - Cataracts - Sensation of sparking lights (photopsias) - Headache Clinical Utility The clinical utility of this panel is: - The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. - Early initiation of multidisciplinary treatment in the form of medical care with vitamin A and other antioxidants and surgical care for potential cataract extraction or retinal prosthesis.
    [Show full text]
  • Treat Cataracts and Astigmatism with One
    TREAT CATARACTS Cataract patients have a choice Eye with cataract See life through the AcrySof® IQ Toric IOL. of treatments, including the As the eye ages, the lens becomes AND ASTIGMATISM WITH breakthrough AcrySof® IQ Toric cloudier, allowing less light to pass Ask your doctor about your options. intraocular lens (IOL) that treats through. The light that doesn’t make ONE PROCEDURE pre-existing corneal astigmatism at the it to the retina is diffused or scattered, same time that it corrects cataracts. leaving vision defocused and blurry. With a single procedure, you have the potential to enjoy freedom from glasses or contacts for distance vision with enhanced image quality – and see life through a new lens. 1. Independent third party research; Data on File, December 2011. Cataracts and astigmatism defined. Important Product Information A cataract is like a cloud over the eye’s lens, Eye with astigmatism CAUTION: Restricted by law to sale by or on the order of a physician. DESCRIPTION: interfering with quality of vision and making The AcrySof® IQ Toric Intraocular Lenses (IOLs) are artificial lenses implanted in the normal activities, such as driving a car, reading When the surface of the cornea has eye of adult patients following cataract surgery. These lenses are designed to correct pre-existing corneal astigmatism, which is the inability of the eye to focus clearly at a newspaper or seeing people’s faces, an uneven curvature, shaped more any distance because of difference curvatures on the cornea, and provide distance vision. WARNINGS / PRECAUTIONS: You may experience and need to contact your increasingly difficult.
    [Show full text]
  • Fact Sheet: Refractive Errors
    Fact Sheet: Refractive Errors More than 11 million Americans have common vision problems that can be corrected with the use of prescriptive eyewear such as glasses or contact lenses.1 These conditions are known as refractive errors and they occur when the eye doesn’t correctly bend, or ―refract,‖ light as it enters the eye. Common refractive errors include the following: o Nearsightedness (also called myopia)—A condition where objects up close appear clearly, while objects far away appear blurry. With nearsightedness, light comes to focus in front of the retina instead of on the retina. o Farsightedness (also called hyperopia)—A common type of refractive error where distant objects may be seen more clearly than objects that are near. However, people experience farsightedness differently. Some people may not notice any problems with their vision, especially when they are young. For people with significant farsightedness, vision can be blurry for objects at any distance, near or far. o Astigmatism—A condition in which the eye does not focus light evenly onto the retina, the light-sensitive tissue at the back of the eye. This can cause images to appear blurry and stretched out. o Presbyopia—An age-related condition in which the ability to focus up close becomes more difficult. As the eye ages, the lens can no longer change shape enough to allow the eye to focus close objects clearly. Refractive errors are one of the most common—and correctable—causes of visual impairment in the United States. According to a recent study led by the National Eye Institute (NEI), approximately half of all American adults don’t have the 20/20 vision physicians consider optimal due to refractive errors.2 Women experience refractive error more frequently than men: Twenty-six percent more women aged 12 and older have uncorrected visual impairment due to refractive error compared with men aged 12 and older.
    [Show full text]
  • A Prospective Study on Hyperglycemia and Retinopathy of Prematurity
    Journal of Perinatology (2014) 34, 453–457 © 2014 Nature America, Inc. All rights reserved 0743-8346/14 www.nature.com/jp ORIGINAL ARTICLE A prospective study on hyperglycemia and retinopathy of prematurity L Mohsen1, M Abou-Alam1, M El-Dib2, M Labib1, M Elsada3 and H Aly2 OBJECTIVE: Retinopathy of prematurity (ROP) constitutes a significant morbidity in premature infants that can lead to blindness. Multiple retrospective studies have identified neonatal hyperglycemia as a risk for developing ROP. However, in the absence of any reported prospective study, it is not clear whether hyperglycemia is associated with ROP independent of the commonly associated comorbidities. The objective of this study was to investigate whether hyperglycemia in premature infants is independently associated with ROP. STUDY DESIGN: Premature infants (o1500 g or ⩽ 32 weeks gestational age) were enrolled in a prospective longitudinal cohort study. All demographic, clinical and laboratory data were collected. Bedside whole-blood glucose concentration was measured every 8 h daily for 7 days. For any glucose readingo50 or>150 mg dl − 1, serum sample was sent to the laboratory for confirmation. Hyperglycemia was defined as any blood glucose level ⩾ 150 mg dl − 1. ROP patients were compared with non-ROP patients in a bivariate analysis. Variables significantly associated with ROP were studied in a logistic regression model. RESULT: A total of 65 patients were enrolled with gestational age 31.1 ± 1.2 weeks and birth weight 1385 ± 226 g. Thirty-one patients (48%) were identified with hyperglycemia. On eye examination, 19 cases (29.2%) had ROP (13 with stage 1, 4 with stage 2 and 2 with stage 3).
    [Show full text]
  • Retinitis Pigmentosa: a Brief Review of the Genetic and Clinical Aspects
    Retinitis Pigmentosa: A Brief Review of the Genetic and Clinical Aspects of the Disease Itia Dowdell Science and Technology Honors Program, University of Alabama at Birmingham, Birmingham, AL, USA School of Health Professions Honors Program, University of Alabama at Birmingham, Birmingham, AL, USA Department of Clinical and Diagnostic Sciences, University of Alabama at Birmingham, Birmingham, AL, USA Abstract Retinitis Pigmentosa (RP) is a heterogeneous set of inherited retinal diseases that affects 1 in 3,000–7,000 people worldwide. Typical onset is from 10–30 years old and most forms are progressive, often leading to blindness. Defects in more than 200 genes have been identified that cause RP. The disease is characterized as a progressive rod-cone dystrophy that presents with night blindness, loss of peripheral vision, waxy pallor of the optic disc, pigmentary changes, and a reduced visual field. There are different modes of transmission of RP: autosomal dominant (ADRP), autosomal recessive (arRP), X-linked (XLRP) and mitochondrial. The genetics behind the different forms of RP and the degree of severity vary, although some overlap, thus contributing to the difficulty of differential diagnosis. RP can manifest either as a non-syndromic disease, or as part of a syndrome, such as in Usher’s syndrome (hearing and vision loss) and BardetBiedl syndrome (a ciliopathy). The purpose of this review is to summarize the major genetic and molecular findings, as well as the diseases, associated with RP. Due to space limitations, this review is not fully comprehensive. Keywords: Retinitis pigmentosa, non-syndromic retinitis pigmentosa, rod-cone dystrophy, rhodopsin Introduction Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinal diseases.
    [Show full text]