Category: Syn
Filter articles
PHARC - a rare syndrome
PHARC is a very rare syndrome caused by a mutation in the ABHD12 gene. PHARC involves combined visual and hearing impairment/deafblindness, polyneuropathy and cellular ataxia. Read more about what PHARC is, prevalence, treatment and support.
Optimising visual functions for people with RP
In a collaboration between Eikholt, the University of Southeast Norway (USN) and the RP Association in Norway, the project has aimed to map which measures are used to optimise the visual function of people with RP. During the project period, knowledge was developed by testing selected measures on participants with RP in various stages. The interventions targeted typical challenges associated with RP, including narrowed field of vision (tunnel vision), reduced vision in low light (night blindness), glare and light sensitivity. You can now read more about the project and watch video presentations about RP, the interventions and the experiences.
Charles Bonnet Syndrome
Charles Bonnet Syndrome (CBS) is described as experiencing recurrent or persistent simple or complex visual hallucinations without altered consciousness, cognitive or psychiatric disorders, sleep disturbances, but with damage to the eyes or the visual system in general (Niazi et al 2020).
Usher syndrome, types and inheritance
Usher syndrome is a rare inherited genetic disorder that leads to combined visual and hearing impairment/deafblindness. Usher syndrome is the most common single cause of deafblindness in people under the age of 65. 50% of all deafblind people under the age of 65 have Usher syndrome. Usher syndrome is not linked to other neurological conditions, only visual and hearing impairment.
Usher syndrome and unreported cases in Norway
Usher syndrom er det vanligste syndromet som fører til døvblindhet, og 50% av alle døvblinde under 65 år har Usher syndrom (Castiglione & Möller, 2022, s. 42). Diagnosen Usher syndrom kan settes på bakgrunn av klinisk funn, eller en genetisk test.
What is vision and characteristics of visual impairment?
Vision is one of our five senses. A large part of the brain is used to process visual impressions. The sense of sight perceives impressions both at a very great distance, for example when we can see a mountain many miles before we stand at the foot of the mountain, and very close up, such as the shaking of our glasses. Our sense of sight gives us information about shape, colour, distance, size and movement. In simple terms, the sense of sight consists of: the eye, the optic nerve, the visual pathways and the visual centre in the brain.