Atypical angioid streaks in a patient with a monoallelic <i>ABCC6</i> mutation

The current case demonstrates the potential for PXE carriers to display both systemic and ophthalmic manifestations of the disease. Individuals with known or suspected monoallelic <i>ABCC6</i> mutations may benefit from genetic counseling and regular examination.

Authors

Publication Details

Journal
Ophthalmic Genetics
Published
2024-12-26
DOI
https://doi.org/10.1080/13816810.2024.2444699
Primary Topic
Dermatological and Skeletal Disorders
Type
article
Field-Weighted Citation Impact
0.00

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article

Atypical angioid streaks in a patient with a monoallelic ABCC6 mutation

Audina M. Berrocal, Jesse D. Sengillo, Landon James Rohowetz
Ophthalmic Genetics
Dermatological and Skeletal Disorders
article

Atypical angioid streaks in a patient with a monoallelic ABCC6 mutation

Audina M. Berrocal, Jesse D. Sengillo, Landon James Rohowetz
article en

Abstract

The current case demonstrates the potential for PXE carriers to display both systemic and ophthalmic manifestations of the disease. Individuals with known or suspected monoallelic <i>ABCC6</i> mutations may benefit from genetic counseling and regular examination.

Ophthalmic GeneticsVol. 46(2)
Prevent Blindness
Zero hunger
Openalex Percentile: Top 73%
Dermatological and Skeletal Disorders
DOISourceOpenAlex
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Atypical angioid streaks in a patient with a monoallelic <i>ABCC6</i> mutation — Audina M. Berrocal, Jesse D. Sengillo, et al. · Ophthalmic Genetics (2024) | TGRS Research Map | TGRS