Browsing by Subject "blindness"

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  • Chew, Tracy; Haase, Bianca; Bathgate, Roslyn; Willet, Cali E.; Kaukonen, Maria K.; Mascord, Lisa J.; Lohi, Hannes T.; Wade, Claire M. (2017)
    Progressive retinal atrophy is a common cause of blindness in the dog and affects >100 breeds. It is characterized by gradual vision loss that occurs due to the degeneration of photoreceptor cells in the retina. Similar to the human counterpart retinitis pigmentosa, the canine disorder is clinically and genetically heterogeneous and the underlying cause remains unknown for many cases. We use a positional candidate gene approach to identify putative variants in the Hungarian Puli breed using genotyping data of 14 family-based samples (CanineHD BeadChip array, Illumina) and whole-genome sequencing data of two proband and two parental samples (Illumina HiSeq 2000). A single nonsense SNP in exon 2 of BBS4 (c.58A > T, p.Lys20*) was identified following filtering of high quality variants. This allele is highly associated (P-CHISQ = 3.425e(-14), n = 103) and segregates perfectly with progressive retinal atrophy in the Hungarian Puli. In humans, BBS4 is known to cause Bardet-Biedl syndrome which includes a retinitis pigmentosa phenotype. From the observed coding change we expect that no functional BBS4 can be produced in the affected dogs. We identified canine phenotypes comparable with Bbs4-null mice including obesity and spermatozoa flagella defects. Knockout mice fail to form spermatozoa flagella. In the affected Hungarian Puli spermatozoa flagella are present, however a large proportion of sperm are morphologically abnormal and
  • Vaalamo, Emilia (Helsingin yliopisto, 2021)
    Kaikkien aistien joukossa näöllä on suurin rooli ympäristön tulkitsemisessa, joten ongelmat näköaistimuksessa vaikuttavat yksilön elämään monin tavoin. Arvioidaan että tällä hetkellä näkövammaisia on maailmanlaajuisesti 2,2 miljardia ja määrä on kasvamassa. Näkövamma voi aiheuttaa monenlaisia haasteita jokapäiväiseen elämään, sillä se vaikuttaa liikkumiseen, sosiaaliseen kanssakäymiseen ja ympäröivän maailman hahmottamiseen. Tämän syventävien opintojen tutkielman tavoitteena on selvittää, onko näkövammalla vaikutusta suunterveyteen ja minkälaisia erityistarpeita näkövammaisilla henkilöillä on suun terveydenhuollon suhteen. Tutkielma on toteutettu kirjallisuuskatsauksena keräämällä aineistoa PubMed ja Google Scholar -tietokannoista sekä oppikirjoista ja lääketieteellisten järjestöjen internet-sivuilta. Aineiston keruussa käytettiin hakusanoja ”visual impairment”, “blindness”, ”oral health”, ”oral healthcare”, “caries” ja “periodontitis”. Tutkimustulosten perusteella on näyttöä siitä, että näkövamma voi vaikuttaa suunterveyteen ja hankaloittaa suuhygieniasta huolehtimista. Näkövammaisilla esiintyy tutkimusten mukaan enemmän kariesta, plakkia ja ientulehdusta kuin normaalisti näkevillä. Lisäksi näkövammaiset käyttävät vähemmän suun terveydenhuollon palveluja. Näkövammaisten suunterveyttä voidaan parantaa heille kohdistetun, moniaistisen suun omahoidon ohjauksen sekä säännöllisten hammaslääkärin tutkimusten avulla.
  • Avela, Kristiina; Salonen-Kajander, Riitta; Laitinen, Arja; Ramsden, Simon; Barton, Stephanie; Rudanko, Sirkka-Liisa (2019)
    Purpose To study the genetic aetiology and phenotypes of retinal degeneration (RD) in Finnish children born during 1993-2009. Methods Children with retinal degeneration (N = 68) were investigated during 2012-2014 with a targeted gene analysis or a next-generation sequencing (NGS) based gene panel. Also, a full clinical ophthalmological examination was performed. Results The cohort covered 44% (68/153) of the Finnish children with inherited RD born 1993-2009. X-linked retinoschisis, retinitis pigmentosa, Leber congenital amaurosis and cone-rod dystrophy were the most common clinical diagnoses in the study group. Pathogenic mutations were found in 17 retinal genes. The molecular genetic aetiology was identified in 77% of the patients (in 77% of the families) analysed by NGS method. Several founder mutations were detected including three novel founder mutations c.148delG in TULP1, c.2314C>R (p.Gln772Ter) in RPGRIP1 and c.533G>A (Trp178Ter) in TYR. We also confirmed the previous tentative finding of c.2944 + 1delG in GYCU2D being the most frequent cause of Leber congenital amaurosis (LCA) in Finland. Conclusions Globally, RD is genetically heterogeneous with over 260 disease genes reported so far. This was shown not to be the case in Finland, where the genetic aetiology of RD is caused by a small group of genes, due to several founder mutations that are enriched in the population. We found that X-chromosomal retinoschisis constitutes the major group in Finnish paediatric RD population and is almost exclusively caused by two founder mutations. Several other founder mutations were detected including three novel founder mutations. All in all, the genetic aetiology of 77% of families was identified which is higher than previously reported from other populations, likely due to the specific genomic constitution of the Finns.