Diagnostic and Therapeutic Challenges

Landon J Rohowetz; Janet L Davis; Siying Lin; Andrew R Webster; Omar A Mahroo

doi:10.1097/IAE.0000000000004149

Diagnostic and Therapeutic Challenges

Landon J Rohowetz, Janet L Davis, Siying Lin, Andrew R Webster, Omar A Mahroo

Division of Evolution, Infection and Genomics

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

Abstract

A 61-year-old woman had worsening vision for 12 years associated with progressive patchy macular chorioretinal atrophy. There was latent tuberculosis and angioid streaks. Testing revealed a pathogenic variant of PRPH2 and a heterozygous ABCC6 variant. Her complex presentation was attributed to PRPH2, which can produce autosomal dominant retinal degeneration.

Original language	English
Pages (from-to)	2035-2039
Number of pages	5
Journal	Retina (Philadelphia, Pa.)
Volume	44
Issue number	11
DOIs	https://doi.org/10.1097/IAE.0000000000004149
Publication status	Published - 1 Nov 2024

Access to Document

10.1097/IAE.0000000000004149

Cite this

@article{9f5722254a9543d4a0acb07ac329e3ea,

title = "Diagnostic and Therapeutic Challenges",

abstract = "A 61-year-old woman had worsening vision for 12 years associated with progressive patchy macular chorioretinal atrophy. There was latent tuberculosis and angioid streaks. Testing revealed a pathogenic variant of PRPH2 and a heterozygous ABCC6 variant. Her complex presentation was attributed to PRPH2, which can produce autosomal dominant retinal degeneration.",

author = "Rohowetz, \{Landon J\} and Davis, \{Janet L\} and Siying Lin and Webster, \{Andrew R\} and Mahroo, \{Omar A\}",

year = "2024",

month = nov,

day = "1",

doi = "10.1097/IAE.0000000000004149",

language = "English",

volume = "44",

pages = "2035--2039",

journal = "Retina (Philadelphia, Pa.)",

issn = "1539-2864",

publisher = "Lippincott Williams \& Wilkins",

number = "11",

}

TY - JOUR

T1 - Diagnostic and Therapeutic Challenges

AU - Rohowetz, Landon J

AU - Davis, Janet L

AU - Lin, Siying

AU - Webster, Andrew R

AU - Mahroo, Omar A

PY - 2024/11/1

Y1 - 2024/11/1

N2 - A 61-year-old woman had worsening vision for 12 years associated with progressive patchy macular chorioretinal atrophy. There was latent tuberculosis and angioid streaks. Testing revealed a pathogenic variant of PRPH2 and a heterozygous ABCC6 variant. Her complex presentation was attributed to PRPH2, which can produce autosomal dominant retinal degeneration.

AB - A 61-year-old woman had worsening vision for 12 years associated with progressive patchy macular chorioretinal atrophy. There was latent tuberculosis and angioid streaks. Testing revealed a pathogenic variant of PRPH2 and a heterozygous ABCC6 variant. Her complex presentation was attributed to PRPH2, which can produce autosomal dominant retinal degeneration.

U2 - 10.1097/IAE.0000000000004149

DO - 10.1097/IAE.0000000000004149

M3 - Article

C2 - 39436304

SN - 1539-2864

VL - 44

SP - 2035

EP - 2039

JO - Retina (Philadelphia, Pa.)

JF - Retina (Philadelphia, Pa.)

IS - 11

ER -

Diagnostic and Therapeutic Challenges

Abstract

Access to Document

Fingerprint

Cite this