Phenotype #0000309097

Individual ID	00417630
Associated disease	GACR;OATD
Phenotype details	younger twin best-corrected visual acuity: 20 / 25, 20 / 32 right, left eye: refractive error right/left eye: -17.0 D / -16.0 D; fundoscopy: fluorescein angiography, optical coherence tomography, Goldmann perimetry and full-field electroretinogram findings similar to those of her older twin; plasma levels of ornithine on amino acids analysis and tandem mass spectrometry: 831 umol/l and 424 umol/l, respectively; treated with vitamin B6 (pyridoxine) 300 mg daily and an arginine-restricted diet, after three months, plasma ornithine levels measured by tandem mass spectrometry: 365 umol/l; visual acuity in each eye were preserved with no progression of chorioretinal atrophy on fundoscopy after 15 months, plasma ornithine levels: 408 umol/l
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	progressive night vision deterioration occurring over the past several years
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-20 20:26:57 +02:00 (CEST)
Date last edited	N/A