Optical coherence tomography angiography findings in X-linked retinoschisis

R Mastropasqua, Lisa Toto, Luca Di Antonio, M Battaglia Parodi, L Sorino, I Antonucci, L Stuppia, M Di Nicola, C Mariotti

Research output: Contribution to journalArticle

Abstract

BACKGROUND AND OBJECTIVE: The aim of the study was to determine optical coherence tomography angiography (OCTA) findings and to identify mutations in the RS1 gene in a three-generation family with X-linked juvenile retinoschisis (XLRS). PATIENTS AND METHODS: Clinical and genetic assessments were performed in 12 family members. OCTA was performed at baseline (12 members including cases and carriers) and after acetazolamide administration (three cases). Twenty healthy subjects (20 eyes, controls) were chosen for comparison. Molecular genetic analysis of the RS1 gene was performed in all family members. RESULTS: Deep capillary plexus density was reduced in cases compared with controls (P <.01) and was negatively related with retinal thickness (P <.05). After treatment, retinal thickness decreased (P <.05) and deep capillary plexus density increased (P <.05) in cases. In three cases and in four carriers, p.Arg197 His mutation was found. CONCLUSION: OCTA shows reduced macular deep vessel density in patients with XLRS probably related to vessel displacement and disruption due to schitic cysts. © 2018 Slack Incorporated. All rights reserved.
Original languageEnglish
Pages (from-to)e20-e31
Number of pages12
JournalOphthalmic Surgery Lasers and Imaging Retina
Volume49
Issue number9
DOIs
Publication statusPublished - 2018

Fingerprint

Retinoschisis
Optical Coherence Tomography
Angiography
Mutation
Acetazolamide
Genes
Cysts
Molecular Biology
Healthy Volunteers
Therapeutics

Cite this

Optical coherence tomography angiography findings in X-linked retinoschisis. / Mastropasqua, R; Toto, Lisa; Di Antonio, Luca; Battaglia Parodi, M; Sorino, L; Antonucci, I; Stuppia, L; Di Nicola, M; Mariotti, C.

In: Ophthalmic Surgery Lasers and Imaging Retina, Vol. 49, No. 9, 2018, p. e20-e31.

Research output: Contribution to journalArticle

Mastropasqua, R, Toto, L, Di Antonio, L, Battaglia Parodi, M, Sorino, L, Antonucci, I, Stuppia, L, Di Nicola, M & Mariotti, C 2018, 'Optical coherence tomography angiography findings in X-linked retinoschisis', Ophthalmic Surgery Lasers and Imaging Retina, vol. 49, no. 9, pp. e20-e31. https://doi.org/10.3928/23258160-20180907-03
Mastropasqua, R ; Toto, Lisa ; Di Antonio, Luca ; Battaglia Parodi, M ; Sorino, L ; Antonucci, I ; Stuppia, L ; Di Nicola, M ; Mariotti, C. / Optical coherence tomography angiography findings in X-linked retinoschisis. In: Ophthalmic Surgery Lasers and Imaging Retina. 2018 ; Vol. 49, No. 9. pp. e20-e31.
@article{5981ff82eaff49c79d812393f28b7e25,
title = "Optical coherence tomography angiography findings in X-linked retinoschisis",
abstract = "BACKGROUND AND OBJECTIVE: The aim of the study was to determine optical coherence tomography angiography (OCTA) findings and to identify mutations in the RS1 gene in a three-generation family with X-linked juvenile retinoschisis (XLRS). PATIENTS AND METHODS: Clinical and genetic assessments were performed in 12 family members. OCTA was performed at baseline (12 members including cases and carriers) and after acetazolamide administration (three cases). Twenty healthy subjects (20 eyes, controls) were chosen for comparison. Molecular genetic analysis of the RS1 gene was performed in all family members. RESULTS: Deep capillary plexus density was reduced in cases compared with controls (P <.01) and was negatively related with retinal thickness (P <.05). After treatment, retinal thickness decreased (P <.05) and deep capillary plexus density increased (P <.05) in cases. In three cases and in four carriers, p.Arg197 His mutation was found. CONCLUSION: OCTA shows reduced macular deep vessel density in patients with XLRS probably related to vessel displacement and disruption due to schitic cysts. {\circledC} 2018 Slack Incorporated. All rights reserved.",
author = "R Mastropasqua and Lisa Toto and {Di Antonio}, Luca and {Battaglia Parodi}, M and L Sorino and I Antonucci and L Stuppia and {Di Nicola}, M and C Mariotti",
year = "2018",
doi = "10.3928/23258160-20180907-03",
language = "English",
volume = "49",
pages = "e20--e31",
journal = "Ophthalmic Surgery Lasers and Imaging Retina",
issn = "2325-8160",
publisher = "Slack Incorporated",
number = "9",

}

TY - JOUR

T1 - Optical coherence tomography angiography findings in X-linked retinoschisis

AU - Mastropasqua, R

AU - Toto, Lisa

AU - Di Antonio, Luca

AU - Battaglia Parodi, M

AU - Sorino, L

AU - Antonucci, I

AU - Stuppia, L

AU - Di Nicola, M

AU - Mariotti, C

PY - 2018

Y1 - 2018

N2 - BACKGROUND AND OBJECTIVE: The aim of the study was to determine optical coherence tomography angiography (OCTA) findings and to identify mutations in the RS1 gene in a three-generation family with X-linked juvenile retinoschisis (XLRS). PATIENTS AND METHODS: Clinical and genetic assessments were performed in 12 family members. OCTA was performed at baseline (12 members including cases and carriers) and after acetazolamide administration (three cases). Twenty healthy subjects (20 eyes, controls) were chosen for comparison. Molecular genetic analysis of the RS1 gene was performed in all family members. RESULTS: Deep capillary plexus density was reduced in cases compared with controls (P <.01) and was negatively related with retinal thickness (P <.05). After treatment, retinal thickness decreased (P <.05) and deep capillary plexus density increased (P <.05) in cases. In three cases and in four carriers, p.Arg197 His mutation was found. CONCLUSION: OCTA shows reduced macular deep vessel density in patients with XLRS probably related to vessel displacement and disruption due to schitic cysts. © 2018 Slack Incorporated. All rights reserved.

AB - BACKGROUND AND OBJECTIVE: The aim of the study was to determine optical coherence tomography angiography (OCTA) findings and to identify mutations in the RS1 gene in a three-generation family with X-linked juvenile retinoschisis (XLRS). PATIENTS AND METHODS: Clinical and genetic assessments were performed in 12 family members. OCTA was performed at baseline (12 members including cases and carriers) and after acetazolamide administration (three cases). Twenty healthy subjects (20 eyes, controls) were chosen for comparison. Molecular genetic analysis of the RS1 gene was performed in all family members. RESULTS: Deep capillary plexus density was reduced in cases compared with controls (P <.01) and was negatively related with retinal thickness (P <.05). After treatment, retinal thickness decreased (P <.05) and deep capillary plexus density increased (P <.05) in cases. In three cases and in four carriers, p.Arg197 His mutation was found. CONCLUSION: OCTA shows reduced macular deep vessel density in patients with XLRS probably related to vessel displacement and disruption due to schitic cysts. © 2018 Slack Incorporated. All rights reserved.

U2 - 10.3928/23258160-20180907-03

DO - 10.3928/23258160-20180907-03

M3 - Article

VL - 49

SP - e20-e31

JO - Ophthalmic Surgery Lasers and Imaging Retina

JF - Ophthalmic Surgery Lasers and Imaging Retina

SN - 2325-8160

IS - 9

ER -