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Article

CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.

Ophthalmic genetics - 1 Oct 2020

Grudzinska Pechhacker Monika K, Di Scipio Matteo, Vig Anjali, Tumber Anupreet, Roslin Nicole, Tavares Erika, Vincent Ajoy, Hèon Elise

Abstract excerpt

BACKGROUND: S-adenosylhomocysteine hydrolase deficiency due to pathologic variants in AHCY gene is a rare neurometabolic disease for which no eye phenotype has been documented. Pathologic variants in CRB1 gene are known to cause a wide spectrum of autosomal recessive retinal diseases with Leber's congenital amaurosis as a most common. The aim of this study is to report co-inheritance of neurometabolic disease and...

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Identifiers

PMID: 32689861
DOI: 10.1080/13816810.2020.1790013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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