Phenotypic variance in Calpain-5 retinal degeneration

Peter H. Tang; Teja Chemudupati; Katherine J. Wert; James C. Folk; Mary Ann Mahajan; Stephen H. Tsang; Alexander G. Bassuk; Vinit B. Mahajan

doi:10.1016/j.ajoc.2020.100627

Phenotypic variance in Calpain-5 retinal degeneration

Peter H. Tang, Teja Chemudupati, Katherine J. Wert, James C. Folk, Mary Ann Mahajan, Stephen H. Tsang, Alexander G. Bassuk, Vinit B. Mahajan

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

8 Scopus citations

Abstract

Purpose: To characterize the phenotype of patients with mild calpain-5 Neovascular Inflammatory Vitreoretinopathy (ADNIV). Observations: The CAPN5 p.R243L mutation is typically associated with onset in the twenties and severe, progressive uveitis, retinal neovascularization, and intraocular fibrosis. Two subjects with this CAPN5 variant only showed mild peripheral retinal pigmentary degeneration and loss of the ERG b-wave at age 45 and 69, respectively, without signs of uveitis or neovascularization. Conclusions/Importance: The phenotypic penetrance of a specific variant in CAPN5-vitreoretinopathy may vary significantly in severity. Patients with pigmentary retinal dystrophy may consider CAPN5 gene testing.

Original language	English (US)
Article number	100627
Journal	American Journal of Ophthalmology Case Reports
Volume	18
DOIs	https://doi.org/10.1016/j.ajoc.2020.100627
State	Published - Jun 2020
Externally published	Yes

Keywords

ADNIV
CAPN5
Calpain
Retinal degeneration
Retinitis pigmentosa

ASJC Scopus subject areas

Ophthalmology

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10.1016/j.ajoc.2020.100627

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@article{45663f719181415fb871a35aedf2da52,

title = "Phenotypic variance in Calpain-5 retinal degeneration",

abstract = "Purpose: To characterize the phenotype of patients with mild calpain-5 Neovascular Inflammatory Vitreoretinopathy (ADNIV). Observations: The CAPN5 p.R243L mutation is typically associated with onset in the twenties and severe, progressive uveitis, retinal neovascularization, and intraocular fibrosis. Two subjects with this CAPN5 variant only showed mild peripheral retinal pigmentary degeneration and loss of the ERG b-wave at age 45 and 69, respectively, without signs of uveitis or neovascularization. Conclusions/Importance: The phenotypic penetrance of a specific variant in CAPN5-vitreoretinopathy may vary significantly in severity. Patients with pigmentary retinal dystrophy may consider CAPN5 gene testing.",

keywords = "ADNIV, CAPN5, Calpain, Retinal degeneration, Retinitis pigmentosa",

author = "Tang, {Peter H.} and Teja Chemudupati and Wert, {Katherine J.} and Folk, {James C.} and Mahajan, {Mary Ann} and Tsang, {Stephen H.} and Bassuk, {Alexander G.} and Mahajan, {Vinit B.}",

note = "Funding Information: VBM and AGB are supported by NIH grants [ R01EY024665 , R01EY025225 , R01EY024698 , R21AG050437 , P30EY026877 ] and Research to Prevent Blindness, New York, NY . Publisher Copyright: {\textcopyright} 2020",

year = "2020",

month = jun,

doi = "10.1016/j.ajoc.2020.100627",

language = "English (US)",

volume = "18",

journal = "American Journal of Ophthalmology Case Reports",

issn = "2451-9936",

publisher = "Elsevier Inc.",

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TY - JOUR

T1 - Phenotypic variance in Calpain-5 retinal degeneration

AU - Tang, Peter H.

AU - Chemudupati, Teja

AU - Wert, Katherine J.

AU - Folk, James C.

AU - Mahajan, Mary Ann

AU - Tsang, Stephen H.

AU - Bassuk, Alexander G.

AU - Mahajan, Vinit B.

N1 - Funding Information: VBM and AGB are supported by NIH grants [ R01EY024665 , R01EY025225 , R01EY024698 , R21AG050437 , P30EY026877 ] and Research to Prevent Blindness, New York, NY . Publisher Copyright: © 2020

PY - 2020/6

Y1 - 2020/6

N2 - Purpose: To characterize the phenotype of patients with mild calpain-5 Neovascular Inflammatory Vitreoretinopathy (ADNIV). Observations: The CAPN5 p.R243L mutation is typically associated with onset in the twenties and severe, progressive uveitis, retinal neovascularization, and intraocular fibrosis. Two subjects with this CAPN5 variant only showed mild peripheral retinal pigmentary degeneration and loss of the ERG b-wave at age 45 and 69, respectively, without signs of uveitis or neovascularization. Conclusions/Importance: The phenotypic penetrance of a specific variant in CAPN5-vitreoretinopathy may vary significantly in severity. Patients with pigmentary retinal dystrophy may consider CAPN5 gene testing.

AB - Purpose: To characterize the phenotype of patients with mild calpain-5 Neovascular Inflammatory Vitreoretinopathy (ADNIV). Observations: The CAPN5 p.R243L mutation is typically associated with onset in the twenties and severe, progressive uveitis, retinal neovascularization, and intraocular fibrosis. Two subjects with this CAPN5 variant only showed mild peripheral retinal pigmentary degeneration and loss of the ERG b-wave at age 45 and 69, respectively, without signs of uveitis or neovascularization. Conclusions/Importance: The phenotypic penetrance of a specific variant in CAPN5-vitreoretinopathy may vary significantly in severity. Patients with pigmentary retinal dystrophy may consider CAPN5 gene testing.

KW - ADNIV

KW - CAPN5

KW - Calpain

KW - Retinal degeneration

KW - Retinitis pigmentosa

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JO - American Journal of Ophthalmology Case Reports

JF - American Journal of Ophthalmology Case Reports

M1 - 100627

ER -

Phenotypic variance in Calpain-5 retinal degeneration

Abstract

Keywords

ASJC Scopus subject areas

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