NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT

Robert G. Tauscher; Safa Rahmani; Brittany M. Szymaniak; Lee M. Jampol; Rukhsana G. Mirza

doi:10.1097/ICB.0000000000001175

NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT

Robert G. Tauscher, Safa Rahmani, Brittany M. Szymaniak, Lee M. Jampol, Rukhsana G. Mirza^*

^*Corresponding author for this work

Ophthalmology

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

Abstract

Purpose:To present the case of a family with a novel PRPH2/RDS mutation.Methods:A case report of a 44-year-old woman and her immediate family, including the father and a sister who shared her PRPH2/RDS mutation.Results:A 44-year-old woman presented with examination findings consistent with a butterfly-type pattern dystrophy. A sister had a similar butterfly-type dystrophy, whereas their father had a severe cone-rod dystrophy. Genetic testing revealed the same novel PRPH2/RDS mutation in all three affected individuals, suggesting that this single mutation can produce at least two disparate retinal disease phenotypes.Conclusion:This case describes a novel p.Y225X nonsense mutation in the PRPH2/RDS gene and demonstrates that it is both pathologic and capable of significant phenotypic variability.

Original language	English (US)
Pages (from-to)	261-265
Number of pages	5
Journal	Retinal Cases and Brief Reports
Volume	17
Issue number	3
DOIs	https://doi.org/10.1097/ICB.0000000000001175
State	Published - May 1 2023

Keywords

ABCA4
PRPH2
PRPH2/RDS
RDS
butterfly macular dystrophy
cone-rod dystrophy
macular dystrophy
multifocal pattern dystrophy simulating Stargardt disease
novel mutation

ASJC Scopus subject areas

Ophthalmology

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10.1097/ICB.0000000000001175

Cite this

@article{089e9496feff4b5fb3964f5fcae97b18,

title = "NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT",

abstract = "Purpose:To present the case of a family with a novel PRPH2/RDS mutation.Methods:A case report of a 44-year-old woman and her immediate family, including the father and a sister who shared her PRPH2/RDS mutation.Results:A 44-year-old woman presented with examination findings consistent with a butterfly-type pattern dystrophy. A sister had a similar butterfly-type dystrophy, whereas their father had a severe cone-rod dystrophy. Genetic testing revealed the same novel PRPH2/RDS mutation in all three affected individuals, suggesting that this single mutation can produce at least two disparate retinal disease phenotypes.Conclusion:This case describes a novel p.Y225X nonsense mutation in the PRPH2/RDS gene and demonstrates that it is both pathologic and capable of significant phenotypic variability.",

keywords = "ABCA4, PRPH2, PRPH2/RDS, RDS, butterfly macular dystrophy, cone-rod dystrophy, macular dystrophy, multifocal pattern dystrophy simulating Stargardt disease, novel mutation",

author = "Tauscher, {Robert G.} and Safa Rahmani and Szymaniak, {Brittany M.} and Jampol, {Lee M.} and Mirza, {Rukhsana G.}",

year = "2023",

month = may,

day = "1",

doi = "10.1097/ICB.0000000000001175",

language = "English (US)",

volume = "17",

pages = "261--265",

journal = "Retinal Cases and Brief Reports",

issn = "1935-1089",

publisher = "Lippincott Williams and Wilkins",

number = "3",

}

TY - JOUR

T1 - NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS

T2 - A CASE REPORT

AU - Tauscher, Robert G.

AU - Rahmani, Safa

AU - Szymaniak, Brittany M.

AU - Jampol, Lee M.

AU - Mirza, Rukhsana G.

PY - 2023/5/1

Y1 - 2023/5/1

N2 - Purpose:To present the case of a family with a novel PRPH2/RDS mutation.Methods:A case report of a 44-year-old woman and her immediate family, including the father and a sister who shared her PRPH2/RDS mutation.Results:A 44-year-old woman presented with examination findings consistent with a butterfly-type pattern dystrophy. A sister had a similar butterfly-type dystrophy, whereas their father had a severe cone-rod dystrophy. Genetic testing revealed the same novel PRPH2/RDS mutation in all three affected individuals, suggesting that this single mutation can produce at least two disparate retinal disease phenotypes.Conclusion:This case describes a novel p.Y225X nonsense mutation in the PRPH2/RDS gene and demonstrates that it is both pathologic and capable of significant phenotypic variability.

AB - Purpose:To present the case of a family with a novel PRPH2/RDS mutation.Methods:A case report of a 44-year-old woman and her immediate family, including the father and a sister who shared her PRPH2/RDS mutation.Results:A 44-year-old woman presented with examination findings consistent with a butterfly-type pattern dystrophy. A sister had a similar butterfly-type dystrophy, whereas their father had a severe cone-rod dystrophy. Genetic testing revealed the same novel PRPH2/RDS mutation in all three affected individuals, suggesting that this single mutation can produce at least two disparate retinal disease phenotypes.Conclusion:This case describes a novel p.Y225X nonsense mutation in the PRPH2/RDS gene and demonstrates that it is both pathologic and capable of significant phenotypic variability.

KW - ABCA4

KW - PRPH2

KW - PRPH2/RDS

KW - RDS

KW - butterfly macular dystrophy

KW - cone-rod dystrophy

KW - macular dystrophy

KW - multifocal pattern dystrophy simulating Stargardt disease

KW - novel mutation

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M3 - Article

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AN - SCOPUS:85153804501

SN - 1935-1089

VL - 17

SP - 261

EP - 265

JO - Retinal Cases and Brief Reports

JF - Retinal Cases and Brief Reports

IS - 3

ER -

NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT

Abstract

Keywords

ASJC Scopus subject areas

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