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1

Retinitis Pigmentosa in Northern Sweden -From Gene to Treatment

by Irina Golovleva, Marie Burstedt

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2

Retinitis Pigmentosa in Northern Sweden - From Gene to Treatment

by Irina Golovleva, Marie Burstedt
Published 2012

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3

Retinal vessel oxygen saturation and vessel diameter in retinitis pigmentosa.

by Eysteinsson, Thor, Hardarson, Sveinn H, Bragason, David, Stefánsson, Einar
Published in Acta Ophthalmologica (2014)
Subjects: “...Retinitis Pigmentosa...”

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4

Analysis of retinal vessels in eyes with retinitis pigmentosa by retinal oximeter

by Ueda‐Consolvo, Tomoko, Fuchizawa, Chiharu, Otsuka, Mitsuya, Nakagawa, Takuya, Hayashi, Atsushi
Published in Acta Ophthalmologica (2014)
“... in the eyes of patients with retinitis pigmentosa ( RP ). Method In this cross‐sectional study, 63 eyes of 63...”

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5

Retinal vessel oxygen saturation and vessel diameter in retinitis pigmentosa

by Eysteinsson, Thor, Hardarson, Sveinn H., Bragason, David, Stefánsson, Einar
Published in Acta Ophthalmologica (2014)
“... in retinitis pigmentosa. Methods A retinal oximeter (Oxymap ehf., Reykjavik, Iceland) was used to measure...”

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6

Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden

by Golovleva, Irina, Köhn, Linda, Burstedt, Marie, Daiger, Stephen, Sandgren, Ola
Published 2010
“... of the retina. The frequency of retinitis pigmentosa (RP) is 1/3500 worldwide, however, in northern Sweden...”

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7

Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden

by Golovleva, Irina, Köhn, Linda, Burstedt, Marie, Daiger, Stephen, Sandgren, Ola
Published 2009

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8

Molecular genetics of inherited retinal degenerations in Icelandic patients.

by Thorsteinsson, Daniel A, Stefansdottir, Vigdis, Eysteinsson, Thor, Thorisdottir, Sigridur, Jonsson, Jon J
Published in Clinical Genetics (2021)
Subjects: “...retinitis pigmentosa...”

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9

EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden

by Westin, Ida Maria, Jonsson, Frida, Österman, Lennart, Holmberg, Monica, Burstedt, Marie, Golovleva, Irina
Published in Scientific Reports (2021)
“...Abstract Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited...”

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10

EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden

by Ida Maria Westin, Frida Jonsson, Lennart Österman, Monica Holmberg, Marie Burstedt, Irina Golovleva
Published in Scientific Reports (2021)
“...Abstract Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited...”

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11

EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden

by Westin, Ida Maria, Jonsson, Frida, Österman, Lennart, Holmberg, Monica, Burstedt, Marie, Golovleva, Irina
Published in Scientific Reports (2021)
“...Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal...”

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12

Molecular genetics of inherited retinal degenerations in Icelandic patients

by Thorsteinsson, Daniel A., Stefánsdóttir, Vigdís Fjóla, Eysteinsson, Þór, Thorisdottir, Sigridur, Jónsson, Jón Jóhannes
Published in Clinical Genetics (2021)
Subjects: “...retinitis pigmentosa...”

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13

Genetic mapping of retinal degenerations in Northern Sweden

by Köhn, Linda
Published 2009
Subjects: “...retinitis pigmentosa...”

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Doctoral or Postdoctoral Thesis
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14

A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome

by Luz Yaqueline Ladino, Johanna Galvis, Diana Yasnó, Adriana Ramírez, Orietta Ivonne Beltrán
Published in Biomédica (2018)
Subjects: “...retinitis pigmentosa...”

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15

Bothnia dystrophy, a clinical, genetical and electrophysiological study

by Burstedt, Marie
Published 2003
Subjects: “...retinitis pigmentosa...”

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Doctoral or Postdoctoral Thesis
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16

A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases

by Ostergaard, Elsebet, Duno, Morten, Batbayli, Mustafa, Vilhelmsen, Kaj, Rosenberg, Thomas
Published 2011

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17

Frecuencia de mutaciones en el gen de la usherina (USH2A) en 26 individuos colombianos con síndrome de Usher, tipo II

by Greizy López, Nancy Yaneth Gelvez, Martalucía Tamayo
Published in Biomédica (2011)
Subjects: “...retinitis pigmentosa...”

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18

Genetics, epigenetics and functional mechanisms in inherited corneal and retinal dystrophies

by Westin, Ida Maria
Published 2022
Subjects: “...Retinitis pigmentosa...”

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Doctoral or Postdoctoral Thesis
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19

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.

by Eichers, ER, Green, JS, Stockton, DW, Jackman, CS, Whelan, J, McNamara, JA, Johnson, GJ, Lupski, JR, Katsanis, N
Published 2002
Subjects: “...Retinitis Pigmentosa...”

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20

Clinical disorders affecting mesopic vision

by Petzold, A, Plant, GT
Published 2006
Subjects: “...retinitis pigmentosa (RP)...”

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