Literature record
A novel mutation and in vivo confocal microscopic findings in Fabry disease.
PMID 28337063 | PMCID PMC5352937 | DOI 10.1016/j.sjopt.2016.12.005 · Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society · 2017 · View on PubMed ↗
Fabry disease is a hereditary, X-linked lysosomal storage disease due to a deficiency of the alpha galactosidase A enzyme. Globotriaosylceramide accumulates in tissues and results in multiorgan dysfunction. The most common ocular finding in Fabry disease is cornea verticillata. Increase in conjunctival vascular tortuosity, and cataract may also be seen. Herein, we demonstrate the in vivo confocal microscopic findings of a genetically proven Fabry disease patient with a novel hemizygous R112L mutation in GLA gene.
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GLA | “Herein, we demonstrate the in vivo confocal microscopic findings of a genetically proven Fabry disease patient with a novel hemizygous R112L mutation in GLA gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | Fabry disease | “A novel mutation and in vivo confocal microscopic findings in Fabry disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | lysosomal storage disease | “Fabry disease is a hereditary, X-linked lysosomal storage disease due to a deficiency of the alpha galactosidase A enzyme.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | congenital cataract | “Increase in conjunctival vascular tortuosity, and cataract may also be seen.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | R112L | “Herein, we demonstrate the in vivo confocal microscopic findings of a genetically proven Fabry disease patient with a novel hemizygous R112L mutation in GLA gene.” | 0.82 | literature_variant_regex_v2 |