IMPG2-associated retinitis pigmentosa displays relatively early macular involvement

Ramon A C van Huet; Rob W J Collin; Anna M Siemiatkowska; Caroline C W Klaver; Carel B Hoyng; Francesca Simonelli; Muhammad I Khan; Raheel Qamar; Eyal Banin; Frans P M Cremers; Thomas Theelen; Anneke I den Hollander; L Ingeborgh van den Born; B Jeroen Klevering

doi:10.1167/iovs.14-14129

IMPG2-associated retinitis pigmentosa displays relatively early macular involvement

Ramon A C van Huet, Rob W J Collin, Anna M Siemiatkowska, Caroline C W Klaver, Carel B Hoyng, Francesca Simonelli, Muhammad I Khan, Raheel Qamar, Eyal Banin, Frans P M Cremers, Thomas Theelen, Anneke I den Hollander, L Ingeborgh van den Born, B Jeroen Klevering

Medical retina and Uveitis

Research output: Contribution to journal › Article › Research › peer-review

Abstract

PURPOSE: To provide the first detailed clinical description in patients with RP caused by recessive mutations in IMPG2.

METHODS: This international collaborative study includes 17 RP patients with inherited retinal disease caused by mutations in IMPG2. The patients were clinically (re-)examined, including extensive medical history taking, slit-lamp biomicroscopy, ophthalmoscopy, perimetry, ERG, optical coherence tomography (OCT), fundus autofluorescence (FAF) imaging, fundus photography, and color vision tests. The main outcome measures included mean age at onset, initial symptom, best-corrected visual acuity, fundus appearance, perimetry results, ERG responses, OCT images, FAF imaging, color vision test reports and DNA sequence variants.

RESULTS: The mean age at onset was 10.5 years (range, 4-20 years). Initial symptoms included night blindness in 59% of patients, a decreased visual acuity in 35%, and visual field loss in 6%. Fundus abnormalities were typical of RP: optic disc pallor, attenuated vessels, bone spicules, and generalized atrophy of the retina and choriocapillaris. Additionally, we observed macular abnormalities in all patients, ranging from subtle mottling of the macular pigment epithelium (two patients) and a bull's eye maculopathy (seven patients) to macular chorioretinal atrophy (seven patients).

CONCLUSIONS: Mutations in IMPG2 cause a severe form of RP with symptoms manifesting in the first 2 decades of life. IMPG2-associated RP is frequently accompanied by macular involvement, ranging from mild pigment alterations to profound chorioretinal atrophy. The resulting decrease in central vision in combination with the severe tunnel vision leads to severe visual impairment in patients with IMPG2-associated RP.

Original language	English
Pages (from-to)	3939-53
Number of pages	15
Journal	Investigative ophthalmology & visual science
Volume	55
Issue number	6
DOIs	https://doi.org/10.1167/iovs.14-14129
Publication status	Published - 29 May 2014

Keywords

Adult
Age of Onset
Aged
Color Perception Tests
Corneal Dystrophies, Hereditary/diagnosis
DNA Mutational Analysis
Electroretinography
Female
Genes, Recessive
Humans
Male
Middle Aged
Mutation
Night Blindness/diagnosis
Ophthalmoscopy
Pedigree
Proteoglycans/genetics
Retinitis Pigmentosa/diagnosis
Tomography, Optical Coherence
Vision Disorders/diagnosis
Visual Acuity/physiology
Visual Field Tests
Visual Fields/physiology
Young Adult

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10.1167/iovs.14-14129

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van Huet, R. A. C., Collin, R. W. J., Siemiatkowska, A. M., Klaver, C. C. W., Hoyng, C. B., Simonelli, F., Khan, M. I., Qamar, R., Banin, E., Cremers, F. P. M., Theelen, T., den Hollander, A. I., van den Born, L. I., & Klevering, B. J. (2014). IMPG2-associated retinitis pigmentosa displays relatively early macular involvement. Investigative ophthalmology & visual science, 55(6), 3939-53. https://doi.org/10.1167/iovs.14-14129

@article{15e12f1238e643f1ac0ed9f68e811543,

title = "IMPG2-associated retinitis pigmentosa displays relatively early macular involvement",

abstract = "PURPOSE: To provide the first detailed clinical description in patients with RP caused by recessive mutations in IMPG2.METHODS: This international collaborative study includes 17 RP patients with inherited retinal disease caused by mutations in IMPG2. The patients were clinically (re-)examined, including extensive medical history taking, slit-lamp biomicroscopy, ophthalmoscopy, perimetry, ERG, optical coherence tomography (OCT), fundus autofluorescence (FAF) imaging, fundus photography, and color vision tests. The main outcome measures included mean age at onset, initial symptom, best-corrected visual acuity, fundus appearance, perimetry results, ERG responses, OCT images, FAF imaging, color vision test reports and DNA sequence variants.RESULTS: The mean age at onset was 10.5 years (range, 4-20 years). Initial symptoms included night blindness in 59% of patients, a decreased visual acuity in 35%, and visual field loss in 6%. Fundus abnormalities were typical of RP: optic disc pallor, attenuated vessels, bone spicules, and generalized atrophy of the retina and choriocapillaris. Additionally, we observed macular abnormalities in all patients, ranging from subtle mottling of the macular pigment epithelium (two patients) and a bull's eye maculopathy (seven patients) to macular chorioretinal atrophy (seven patients).CONCLUSIONS: Mutations in IMPG2 cause a severe form of RP with symptoms manifesting in the first 2 decades of life. IMPG2-associated RP is frequently accompanied by macular involvement, ranging from mild pigment alterations to profound chorioretinal atrophy. The resulting decrease in central vision in combination with the severe tunnel vision leads to severe visual impairment in patients with IMPG2-associated RP.",

keywords = "Adult, Age of Onset, Aged, Color Perception Tests, Corneal Dystrophies, Hereditary/diagnosis, DNA Mutational Analysis, Electroretinography, Female, Genes, Recessive, Humans, Male, Middle Aged, Mutation, Night Blindness/diagnosis, Ophthalmoscopy, Pedigree, Proteoglycans/genetics, Retinitis Pigmentosa/diagnosis, Tomography, Optical Coherence, Vision Disorders/diagnosis, Visual Acuity/physiology, Visual Field Tests, Visual Fields/physiology, Young Adult",

author = "{van Huet}, {Ramon A C} and Collin, {Rob W J} and Siemiatkowska, {Anna M} and Klaver, {Caroline C W} and Hoyng, {Carel B} and Francesca Simonelli and Khan, {Muhammad I} and Raheel Qamar and Eyal Banin and Cremers, {Frans P M} and Thomas Theelen and {den Hollander}, {Anneke I} and {van den Born}, {L Ingeborgh} and Klevering, {B Jeroen}",

year = "2014",

month = may,

day = "29",

doi = "10.1167/iovs.14-14129",

language = "English",

volume = "55",

pages = "3939--53",

number = "6",

}

van Huet, RAC, Collin, RWJ, Siemiatkowska, AM, Klaver, CCW, Hoyng, CB, Simonelli, F, Khan, MI, Qamar, R, Banin, E, Cremers, FPM, Theelen, T, den Hollander, AI, van den Born, LI & Klevering, BJ 2014, 'IMPG2-associated retinitis pigmentosa displays relatively early macular involvement', Investigative ophthalmology & visual science, vol. 55, no. 6, pp. 3939-53. https://doi.org/10.1167/iovs.14-14129

TY - JOUR

T1 - IMPG2-associated retinitis pigmentosa displays relatively early macular involvement

AU - van Huet, Ramon A C

AU - Collin, Rob W J

AU - Siemiatkowska, Anna M

AU - Klaver, Caroline C W

AU - Hoyng, Carel B

AU - Simonelli, Francesca

AU - Khan, Muhammad I

AU - Qamar, Raheel

AU - Banin, Eyal

AU - Cremers, Frans P M

AU - Theelen, Thomas

AU - den Hollander, Anneke I

AU - van den Born, L Ingeborgh

AU - Klevering, B Jeroen

PY - 2014/5/29

Y1 - 2014/5/29

N2 - PURPOSE: To provide the first detailed clinical description in patients with RP caused by recessive mutations in IMPG2.METHODS: This international collaborative study includes 17 RP patients with inherited retinal disease caused by mutations in IMPG2. The patients were clinically (re-)examined, including extensive medical history taking, slit-lamp biomicroscopy, ophthalmoscopy, perimetry, ERG, optical coherence tomography (OCT), fundus autofluorescence (FAF) imaging, fundus photography, and color vision tests. The main outcome measures included mean age at onset, initial symptom, best-corrected visual acuity, fundus appearance, perimetry results, ERG responses, OCT images, FAF imaging, color vision test reports and DNA sequence variants.RESULTS: The mean age at onset was 10.5 years (range, 4-20 years). Initial symptoms included night blindness in 59% of patients, a decreased visual acuity in 35%, and visual field loss in 6%. Fundus abnormalities were typical of RP: optic disc pallor, attenuated vessels, bone spicules, and generalized atrophy of the retina and choriocapillaris. Additionally, we observed macular abnormalities in all patients, ranging from subtle mottling of the macular pigment epithelium (two patients) and a bull's eye maculopathy (seven patients) to macular chorioretinal atrophy (seven patients).CONCLUSIONS: Mutations in IMPG2 cause a severe form of RP with symptoms manifesting in the first 2 decades of life. IMPG2-associated RP is frequently accompanied by macular involvement, ranging from mild pigment alterations to profound chorioretinal atrophy. The resulting decrease in central vision in combination with the severe tunnel vision leads to severe visual impairment in patients with IMPG2-associated RP.

AB - PURPOSE: To provide the first detailed clinical description in patients with RP caused by recessive mutations in IMPG2.METHODS: This international collaborative study includes 17 RP patients with inherited retinal disease caused by mutations in IMPG2. The patients were clinically (re-)examined, including extensive medical history taking, slit-lamp biomicroscopy, ophthalmoscopy, perimetry, ERG, optical coherence tomography (OCT), fundus autofluorescence (FAF) imaging, fundus photography, and color vision tests. The main outcome measures included mean age at onset, initial symptom, best-corrected visual acuity, fundus appearance, perimetry results, ERG responses, OCT images, FAF imaging, color vision test reports and DNA sequence variants.RESULTS: The mean age at onset was 10.5 years (range, 4-20 years). Initial symptoms included night blindness in 59% of patients, a decreased visual acuity in 35%, and visual field loss in 6%. Fundus abnormalities were typical of RP: optic disc pallor, attenuated vessels, bone spicules, and generalized atrophy of the retina and choriocapillaris. Additionally, we observed macular abnormalities in all patients, ranging from subtle mottling of the macular pigment epithelium (two patients) and a bull's eye maculopathy (seven patients) to macular chorioretinal atrophy (seven patients).CONCLUSIONS: Mutations in IMPG2 cause a severe form of RP with symptoms manifesting in the first 2 decades of life. IMPG2-associated RP is frequently accompanied by macular involvement, ranging from mild pigment alterations to profound chorioretinal atrophy. The resulting decrease in central vision in combination with the severe tunnel vision leads to severe visual impairment in patients with IMPG2-associated RP.

KW - Adult

KW - Age of Onset

KW - Aged

KW - Color Perception Tests

KW - Corneal Dystrophies, Hereditary/diagnosis

KW - DNA Mutational Analysis

KW - Electroretinography

KW - Female

KW - Genes, Recessive

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation

KW - Night Blindness/diagnosis

KW - Ophthalmoscopy

KW - Pedigree

KW - Proteoglycans/genetics

KW - Retinitis Pigmentosa/diagnosis

KW - Tomography, Optical Coherence

KW - Vision Disorders/diagnosis

KW - Visual Acuity/physiology

KW - Visual Field Tests

KW - Visual Fields/physiology

KW - Young Adult

U2 - 10.1167/iovs.14-14129

DO - 10.1167/iovs.14-14129

M3 - Article

C2 - 24876279

SN - 0146-0404

VL - 55

SP - 3939

EP - 3953

JO - Investigative ophthalmology & visual science

JF - Investigative ophthalmology & visual science

IS - 6

ER -

IMPG2-associated retinitis pigmentosa displays relatively early macular involvement

Abstract

Keywords

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