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Article

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

International journal of molecular sciences - 19 Feb 2021

Kellner Ulrich, Weisschuh Nicole, Weinitz Silke, Farmand Ghazaleh, Deutsch Sebastian, Kortüm Friederike, Mazzola Pascale, Schäferhoff Karin, Marino Valerio, Dell'Orco Daniele

Abstract excerpt

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 in the second decade of life. Progression continued centrally, reaching the fovea at about 60 years of age....

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PMID: 33669876
DOI: 10.3390/ijms22042089
PMCID: PMC7923301

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