Panel speakers Sunday morning

 

Kathryn Colby, MD, PhD
The Boston Keratoprosthesis for Aniridia

Aniridia affects the cornea (the normally-clear “front window” of the eye) and causes the condition called aniridia-associated keratopathy. Patients with aniridia lack the stem cells that produce the healthy surface cells of the cornea. When the stem cells don’t work, the cornea becomes hazy and full of new blood vessels, which limits vision. A regular corneal transplant has a poor success rate in aniridia because of the lack of stem cells. One approach to solve this problem is to perform a stem –cell transplant, taking healthy stem cells from a relative or from a cornea donor. However, this approach requires potentially dangerous medications to prevent rejection of the donated stem cells. Another approach, which does not require immunosuppression, is to implant an artificial cornea, called a keratoprosthesis. The Boston Keratoprosthesis, developed at the Massachusetts Eye and Ear Infirmary by Dr Claes Dohlman, can restore vision in patients with aniridia-associated keratopathy. This talk will review the outcomes and potential complications of the Boston Keratoprosthesis in patients with aniridia.

 

John M. Freeman, MD, PhD

Aniridic keratopathy involves a slow progressive opacification of the normally clear cornea. Most but not all aniridics will develop the condition by the second or third decade of their lives and it can cause significant loss of vision from baseline in its late stages. Current treatments largely are employed after the condition has progressed significantly and are surgical procedures with known but hard to quantify risks. With increasing knowledge about the cellular and molecular mechanisms behind aniridic keratopathy there is hope that therapies will be developed to slow or halt the progression of the condition and eliminate the need for surgical intervention.

 

Professor Irene Gottlob
Foveal morphology and eye movements in people with PAX6 mutations

People with mutation in the PAX6 gene have a variety of changes in the eyes. One of the problems causing reduced vision is that the central retina (fovea), that is needed for sharp vision, does not fully develop (foveal hypoplasia). A new method in ophthalmology, called optical coherence tomography (OCT) allows us to see all the retinal layers, at an almost microscopic level, without even touching the examined person. With OCT we can see how well the central retina is developed and have found that the central retinal development varies widely in different people with PAX6 mutations. We have found that the lengths of the photoreceptor cells (one of the retinal layers) correlate best with the level of vision in foveal hypoplasia and have developed a grading system which can be used to estimate the vision of people with foveal hypoplasia.

Another problem many people with PAX6 mutations have is nystagmus; an involuntary to and fro or up and down eye movement. We have measured the nystagmus in people with PAX6 mutations and found that it is very variable even within the same families. It is more frequently vertical than in other diseases with foveal hypoplasia for example albinism. We have recently acquired a hand-held OCT instrument which can be used in infants and small children. We are currently undertaking research to see whether this can predict the visual level children develop later in life. If you have questions or are interested in participating in our studies in Leicester please contact Irene Gottlob per phone +441162586291 or email (ig15@le.ac.uk).

 

Dr. J. Lauderdale
Genetics of Aniridia

Aniridia is a rare genetic eye disorder that occurs in about 1 in 60,000 live births worldwide and is typically caused by heterozygous mutations within the PAX6 gene. Approximately two-thirds of aniridic patients have mutations in the portion of the PAX6 gene that encodes for PAX6 protein. The PAX6 protein is a highly conserved transcription factor crucial for normal eye development and cornea homeostasis. An additional 15-20% of aniridic patients have a deletion of the PAX6 gene or a change that prevents the gene from being expressed. The remaining cases of aniridia are caused by mutations in other genes. Understanding the specific mutation is helpful to patients and physicians in managing aniridia.

 

Peter A. Netland, MD, PhD
Glaucoma in Aniridia

Glaucoma is a potentially vision-threatening problem that is commonly encountered in aniridia patients. This condition may develop at birth, or shortly thereafter. More commonly, however, glaucoma is acquired later in childhood or even young adulthood. In a survey of patients with aniridia, the average age at diagnosis of glaucoma was 13.6 (median 8.5) years. In subjects with aniridia and glaucoma, the majority were treated with glaucoma medications and surgical treatment. Medical and surgical treatments for glaucoma are effective. Surgical treatment is individualized to the patient. The experience of the examination and treatment will be discussed. If unrecognized and untreated, glaucoma can result in loss of vision. Thus, it is important to be vigilant for this condition in children affected with aniridia.

 

Christopher D. Riemann, M.D.

Aniridia patients present significant challenges to the practicing ophthalmologist both diagnostically and for treatment. The reasons for this as well a rational way forward for diagnosis and treatment will be discussed

 

 

 

Invited speakers Sunday

 

Knut Brandsborg

Knut Brandsborg er spesialist i klinisk psykologi. Han har vært ansatt ved Huseby Kompetansesenter siden 1979, med noen år innimellom i barne- og ungdomspsykiatri, voksenpsykiatri og privat praksis. Arbeider i Førskoleteam og Autismeteam, men også en del med skolebarn, ungdom og voksne.

 

Barns følelsesreaksjoner- hvordan møte dem? Å snakke med barn om deres egen synsnedsettelse

 

Abstract

Er det noe poeng å snakke med førskolebarn om deres egen synsnedsettelse? Det kan være noen ulemper forbundet med å gjøre det, men fordelene er vanligvis betydelig flere og større. Helt avgjørende vil være måten det gjøres på og at barnet er rede, både i utvikling og i ønsket om å dele noe om dette med en voksen. Den voksne kan fange opp signaler og prøveballonger fra barnet, eller selv prøve å lage åpninger for temaet på forskjellige måter.

Regelmessig samvær med andre som også har en synsnedsettelse kan være et bidrag i seg selv til at et barn får bevisstgjort og bearbeidet tanker og følelser rundt det å være annerledes enn gjennomsnittet.

Presentasjonen er basert på to forutsetninger

• Følelser er alltid sanne, for den som har dem
• Gleder kan bli dobbelt så store og sorger halvparten så store når vi kan få mulighet til å dele dem med andre og de blir tatt i mot.

 

English abstract

Talking with preschool children about their own visual impairment, does it make sense? It may have some negative implications, but there are usually far more advantages. The way we do it is very important. So is the child’s readiness when it comes to mental development and his or her wish to share thoughts, feelings and experiences with an adult. The adult may catch signals and “test balloons” from the child, or try to create openings for this theme in various ways.

Repeated contact with other persons who have a visual impairment may in itself contribute to increased consciousness and may also help the child handle thoughts and feelings about being different from the average child.

The presentation is based on two assumptions

• Feelings are always true, for the one who has them
• Joys may be doubled and sorrows be halved when we have the possibility to share them with another person who is able to receive them

 

Hilde Tvedt Ryen

Utdanning: Allmennlærer, videreutdanning i spesialpedagogikk, synspedagogikk, mobilitetspedagogikk, optometrisk rehabilitering, master i spesialpedagogikk innenfor synspedagogikk.
Erfaring: Syn- og mobilitetspedagog i 14 år, Lærer i grunn- og videregående skole 3 år, Fagleder for spesialundervisning på videregående skole 1 år, Spesialpedagog i forsterket barnehage 4 år, Miljøterapeut for voksen person med autisme 2 år
Yrkestittel: Seniorrådgiver/syn- og mobilitetspedagog
Arbeidssted: Huseby kompetansesenter

 

Forberedelser til yrkeslivet for personer med synsnedsettelse

Abstract

Kriterier for yrkes- og utdanningsvalg (YOU) kan forankres i motivasjon, langsiktig planlegging, det å foreta realistiske valg og en god porsjon egeninnsats. Ungdom i dag har mange og varierte YOU. Valgmulighetene er store samtidig som det kan virke overveldende og gjøre det vanskelig å velge. For å involvere og veilede ungdommen på et tidlig tidspunkt i YOU, ble det i 2008 opprettet et helt nytt obligatorisk fag på ungdomstrinnet som heter «utdanningsvalg». Faget er ment å styrke utdannings- og yrkesveiledning til ungdom i grunnskolen som skal velge utdanningsprogram i videregående skole. Hensikten er å øke elevens valgkompetanse og hindre omvalg og frafall. Grunnlaget for langsiktig planlegging begynner allerede i 8. klasse.

Motivasjon og egen bevissthet om framtidig arbeid er de mest sentrale faktorene for å nå sine yrkesmål. Jeg får ofte spørsmålet «Er det noe han/hun ikke kan bli grunnet nedsatt syn?». Ja, svarer jeg, men det spørsmålet man bør stille: hva er det du kan tenke deg å arbeide med, hva brenner du for, hva er realistisk måloppnåelse for deg? Noen yrker har formelle krav til visus (synstyrke) og synsfelt, men disse utgjør et mindretall av alle yrker.

Det er flere etablerte offentlige ordninger som har som mål å få funksjonshemmede/synshemmede i utdanning og yrke. Uavhengig av de offentlige ordningene, så er det likevel arbeidsgiver som bestemmer hvem som skal ansettes.

Dersom en arbeidsgiver har valget mellom en fullt seende og en som er sterkt svaksynt – hvem er det sannsynlig at arbeidsgiver velger? Vi må også ha arbeidsgivere som våger å ansette personer med synsnedsettelse. Hvilke erfaringer er gjort på dette området?

 

Preparing for work for people with visual impairment

English abstract

Criteria for regarding occupational and educational choices can be anchored in motivation, long-term planning, evaluate realistic choices and a good portion of self-efforts.

Young people today have a grate range of occupational and educational choices. The options are wide, and it may seem overwhelming and make it difficult to choose.

To involve and supervise youth at an early stage of occupational choices, it was in 2008 created a new compulsory subject in secondary schools called “educational choices”. The course is intended to strengthen the educational and vocational guidance for youth in elementary schools to choose education in high school. The purpose is to increase the student's choice of competence and prevent re-selection and dropout. The basis for long-term planning begins as early as 8th grade at the age of 14.

Motivation and self-awareness are the most important factors to achieve one goals concerning future work. I am often asked, "Is there anything he/she can’t do due to impaired vision?". Yes, I reply, but the question one should ask: what is it you would like to work with, what are your interested in, what is realistic achievements for you? Some professions have formal requirements based on visual acuity and visual field, but these constitute a minority of all professions.

There are established several public services to help disabled/visually impaired in the process of accomplish an education or profession.

Regardless of the public services it is nonetheless an employer who decides who should be appointed. If an employer has a choice between a fully sighted and one that is severely visually impaired - who is likely that the employer chooses? We also need to have employers who dare to hire people with vision loss. What experiences have been made in this area?

 

Marianne Almbakk

Bachelorgrad i kultur og kommunikasjon fra Institutt for sosiologi og samfunnsgeografi, Universitetet i Oslo. Mastergrad i psykologi med vekt på kultur og samfunnspsykologi, Psykologisk institutt, Universitetet i Oslo. Arbeider nå ved institutt for sosiologi og samfunnsgeografi.

 

Balansekunst: Identitet, selvfølelse og livskvalitet hos ungdom som har en synsnedsettelse

Abstract

Presentasjonen fokuserer på identitet, selvfølelse og livskvalitet hos ungdom som har en synsnedsettelsen og deres relasjoner til foreldre, klassekamerater og venner. Undersøkelsen som denne presentasjonen bygger på har en narrativ psykologisk tilnærming, der deltakernes virkelighet ikke ses på som objektiv, men snarere påvirket av hvem de er, deres tidligere erfaringer og konteksten. Data er semistrukturerte narrative intervjuer som varte i en til to og en halv time, med ni ungdom i alderen 15 til 20 år. Presentasjonen fokuserer på deltakernes egne opplevelser og tanker gjennom sitater fra intervjuene.

Analysen av intervjuene viste at deltakerne beskrev seg selv gjennom aktiviteter de var interessert i og som de mestret godt. Deltakernes rolle i narrativene var en aktiv, flink og sosial person med en travel hverdag. Dette kunne ta oppmerksomheten vekk fra kjennetegn som hadde med synshemningen å gjøre, kamuflere en følelse av ensomhet, og gi deltakerne noe å identifisere seg med. Ungdommene hadde et sterkt ønske om å ha kontakt med andre og føle at de passet inn. Flere framstilte seg imidlertid innledningsvis som sosiale og travle personer, mens fortsettelsen av narrativet viste at de ikke var så mye sammen med venner likevel. Flere av deltakerne hadde en høy terskel for hva de oppfattet som mobbing, og narrativer om vanskelige episoder ble ofte avsluttet med uttrykk som «sånn er livet» eller «det går over». Der deltakerne har et kontaktnett rundt seg, bestående av mennesker som deltar i samme aktivitet eller har samme interesser som dem selv, ser dette ut til å slå ut positivt for deres livskvalitet.

 

The art of balance: Identity, and social relations of adolescents with visual impairment

English abstract

This presentation focuses on the identity of adolescents with visual impairment and their social relations to parents, classmates and friends. The approach is narrative both concerning theory and method. Data came from semi structured interviews of one to two and a half hours’ duration, with nine adolescents between 15 and 20 years of age. The presentation will focus on the participants own experience using quotes to demonstrate the results of the analysis.

The analysis showed that the participants emphasized the importance of being met with realistic expectations. They described themselves in a large degree thru activities they mastered well which in turn seemed to enhance their feelings towards themselves and their social relations. Their wishes for belongingness and social contact with others were strong. Initially, several of the participants constructed themselves as social people with a lot to do, but when continuing, their stories showed that spending time with friends happened quite infrequently. The participants would not easily characterize episodes as bullying, and narratives about difficult episodes would often end by expressions like “that’s life” or “it will be all right”. Having a network of contacts with the same interests and activity plans, seem to have positive effect on live quality.

 

Ulla Edén, MD, PhD

Dept. of Ophthalmology, Inst f Clinical and Experimental Medicine (IKE) University of Health, Linköping, Sweden

 

Hva skjer med øynene i forbindelse med aldring?

Ulla Edén MD, PhD*, Ruth Riise, MD, PhD**, Kristina Tornquist, MD, PhD***, Neil Lagali PhD*, Per Fagerholm MD, PhD*
* Øyeavdelingen, Institutt for klinisk og ekperimentell medisin, Linköping universitet, 581 83 Linköping, Sverige
** Avdeling for medisink genetikk, Rikshospitalet, Universitetet i Oslo, Norge
***Øyeavdelingen, Lund universitet, Sverige
Korresponderende forfatter: Ulla Edén

 

Abstract

Formål: Å øke forståelsen av aniridi.

Materialer: Pasienter i Sverige ble oppsøkt ved hjelp av nasjonalt register over synshemmede barn, synssentraler og øyeklinikker. I Norge ble pasientene kontaktet via den norske aniridiforeningen. 124/181 pasienter ble undersøkt 2004 - 2005. Seksten av de norske pasientene deltok i en oppfølgingsstudie i 2012.

Metoder: Ved den første undersøkelsen ble det gjort en generell synsundersøkelse, supplert med bilder og undersøkelse av tårer. Ved den andre undersøkelsen ble det lagt til moderne metoder for å spesialundersøke hornhinnen.

Resultater: Forekomsten av aniridia i Sverige og Norge til sammen var 1:72 000. I Sverige var forekomsten for pasienter <80 år 1:70 000 og hos pasienter <20 år 1:47 000. Aldersspredningen var fra 6 uker til 79 år. Middelverdien for synsskarphet var 0,2. Vi fant katarakt som påvirket synet hos nesten 50% av pasientene, og glaukom hos 43% av pasientene. Synsnedsettende hornhinneuklarheter ble funnet hos 29% av de undersøkte øynene. Disse forandringene var relatert til alder. I aldersgruppen> 40 år var fordelingen av synsforstyrrende og ikke synsforstyrrende uklartheter omtrent lik. Blant de 10 eldste pasientene hadde åtte pasienter katarakt/var kataraktoperert, syv pasienter hadde glaukom og 8 pasienter (14 øyne) synsforstyrrende hornhinneforandringer.

Konklusjon: De fleste sekundære komplikasjoner ved aniridia er aldersrelatert, men det er betydelige forskjeller mellom pasienter. Mange ulike faktorer bidrar til bl.a. økende hornhinneforandringer. Resultatene av vår oppfølgingsstudie vil bli rapportert.

 

How does the eye status in aniridia evolve with time?

Ulla Edén MD, PhD*, Ruth Riise, MD, PhD**, Kristina Tornquist, MD, PhD***, Neil Lagali PhD*, Tor Paaske Utheim MD, PhD, Xiangjun Chen PhD, Per Fagerholm MD, PhD*
* Department of Ophthalmology, Institute for Clinical and Experimental Medicine Faculty of Health Sciences, Linköping University, 581 83 Linköping, Sweden
** Department of Medical Genetics, Rikshospitalet, University of Oslo, Norway
***Department of Ophthalmology, Lund University, Sweden 1 Synslaser AS, Oslo, Norway
Corresponding author: Ulla Edén

 

English abstract

Purpose: To study the ocular involvement in aniridia and how it evolves over time.

Material: Patients in Sweden were recruited from eye clinics, low vision centers, and from the National Register of Visually Impaired Children. In Norway, patients were recruited with help of the Norwegian Aniridia Society. In total, 124 of 181 patients contacted were examined in 2004-2005. Sixteen of the Norwegian patients participated in a follow-up study in 2012

Methods: During the initial visit, patients received a general ophthalmic examination including slit lamp photography and examination of tears. During the second visit, a broader examination was completed, with a special focus on detailed examination of the cornea using state-of-the-art ophthalmic instrumentation.

Results: The combined incidence of aniridia in Sweden and Norway was 1 in 72,000. In Sweden, the incidence among those under 80 years of age was 1 in 70,000 and among those under 20 years of age was 1 in 47,000. Aniridia patients in the entire group ranged in age from 6 weeks to 79 years, and the mean visual acuity was 0.2. Vision-imparing cataract was found in 50% of patients, and glaucoma in 43%. Vision-impairing corneal haze was found in 29%, and was related to age. In those over 40 years of age, the probability of having vision-affecting corneal haze was 50%. Of the 10 eldest patients, 8 had a history of cataract, 7 had glaucoma, and 8 (14 eyes) had vision-impairing corneal haze.

Conclusions: Most complications secondary to aniridia are age-related, but significant differences exist among patients. Additionally, multiple factors appear to contribute to a progressive corneal pathology. The results of the follow-up study in the Norwegian patients will be reported.