Akromatopsija

master's thesis

• Title (english): Achromatopsia
• Author: Anamarija Raguž
• Mentor: Igor Petriček (mentor)
• Committee member: Nenad Vukojević (predsjednik povjerenstva)
• Committee member: Miro Kalauz (član povjerenstva)
• Committee member: Igor Petriček (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Ophthalmology and Optometry); Zagreb
• Defense date and country: 2021-07-16, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Ophthalmology

Abstract

Akromatopsija je rijetka autosomno recesivna bolest karakterizirana nedostatkom funkcionalnih čunjića u mrežnici. Incidencija iznosi otprilike 1:40,000 živorođenih. Konsangvinitet roditelja može dovesti do povećane incidencije ove bolesti. Prevalencija akromatopsije je osobito visoka na malom atolu Pingelap u zapadanom Pacifiku gdje otprilike 4-10 % populacije ima ovu bolest, a oko 30 % populacije su nositelji recesivnog gena za akromatopsiju. Uglavnom se prezentira sljepoćom za boje, fotofobijom, nistagmusom i smanjenom vidnom oštrinom. Znakovi i simptomi variraju ovisno o tome ima li pacijent potpuni ili nepotpuni oblik ove bolesti. Do sada je otkriveno 6 gena koji se dovode u vezu s akromatopsijom, a to su: CNGA3, CNGB3, GNAT2, PDE6C, PDE6H i ATF6. Svaki od njih kodira ključnu komponentu bitnu za proces fototransdukcije na razini čunjića. U sklopu dijagnoze na raspolaganju stoje: klinička evaluacija, obiteljska anamneza, elektrofiziološki testovi, OCT, fundus autofluorescenca, test prepoznavanja boja i genetsko testiranje. Trenutno ne postoji lijek za akromatopsiju. Terapija je uglavnom simptomatska te uključuje nošenje zatamnjenih naočala i kontaktnih leća ili onih s ugrađenim filterom za svjetlo, korištenje uređaja koji prepoznaju boje i drugih tehničkih pomagala. Ogromni napori se ulažu u pronalaženje definitivne terapije za akromatopsiju. Budući da je ona autosomno recesivna bolest, jedan od glavnih terapijskih pristupa na kojem se provode brojna istraživanja je genska terapija.

Abstract (english)

Achromatopsia is a rare autosomal recessive inherited disorder defined by loss of cone cell function in the retina. It is affecting approximately one in 40,000 live births worldwide. Parental consanguinity may contribute to the increased incidence of this disease. The prevalence of this condition is particularly high on the small atoll of Pingelap in the Western Pacific. Approximately 4-10 % of the population there is affected, with approximately 30% of people being carriers.
It is classically presenting with color blindness, photophobia, nystagmus and decreased visual acuity. Signs and symptoms may vary depending on whether the patient has a complete or incomplete form of the disease. There are 6 genes that have been associated with this disease: CNGA3, CNGB3, GNAT2, PDE6C, PDE6H and ATF6. All of them encode crucial components of the cone phototransduction cascade. Diagnostic options include clinical evaluation, family history, electrophysiological tests, optical coherence tomography (OCT), fundus autofluorescence, color vision test and genetic testing. There is currently no cure for achromatopsia, so treatments like wearing filtered glasses and contact lenses, the use of color recognizing devices and other technological aids are usually focused on improving quality of life. Enormous efforts have been made to identify a definitive treatment for this disease. Since achromatopsia is an autosomal recessive disorder, one of the main therapeutic approaches that has been explored is a gene therapy.

• Keywords: akromatopsija; mrežnica; čunjići; genska terapija
• Keywords (english): achromatopsia; retina; cones; gene therapy
• Language: croatian
• URN:NBN: urn:nbn:hr:105:098372
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2022-05-04 09:08:52