Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel <i>C1QTNF5</i> Missense Variant

Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel <i>C1QTNF5</i> Missense Variant

We present a long-term follow-up in autosomal dominant gyrate atrophy-like choroidal dystrophy (adGALCD) and propose a possible genotype/phenotype correlation. Ophthalmic examination of six patients from two families revealed confluent areas of choroidal atrophy resembling gyrate atrophy, starting i...

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Bibliographic Details
Main Authors: Ulrich Kellner, Nicole Weisschuh, Silke Weinitz, Ghazaleh Farmand, Sebastian Deutsch, Friederike Kortüm, Pascale Mazzola, Karin Schäferhoff, Valerio Marino, Daniele Dell’Orco
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:International Journal of Molecular Sciences
Subjects:
autosomal dominant gyrate atrophy-like choroidal dystrophy (adGALCD)
late-onset retinal dystrophy (LORD)
C1QTNF5
genetic modeling
long-term follow-up
Online Access:https://www.mdpi.com/1422-0067/22/4/2089

Internet

https://www.mdpi.com/1422-0067/22/4/2089

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