Phenotype #0000309096

Individual ID	00417629
Associated disease	GACR;OATD
Phenotype details	older twin best-corrected visual acuity: 20 / 32 both eyes; refractive error right/left eye: -17.75 / -17.25 diopter; bilateral posterior subcapsular cataracts; fundus: bilateral severe chorioretinal atrophy involving the midperiphery; fluorescein angiography: leakage at the margin of chorioretinal atrophy and dye accumulation in the maculae of both eyes; cystoid macular edema evident in both eyes on optical coherence tomography; dynamic Goldmann perimetry: visual field constriction in both eyes; full-field electroretinogram: markedly impaired photopic and scotopic responses; amino acid analysis: markedly elevated plasma levels of ornithine (783 umol/l; normal range, 48 to 195 umol/l); tandem mass spectrometry: plasma ornithine levels of 380 umol/l (cutoff, 290 umol/l) ; treated with vitamin B6 (pyridoxine) 300 mg daily and an arginine-restricted diet, after three months, plasma ornithine levels measured by tandem mass spectrometry: 254 umol/l; visual acuity in each eye were preserved with no progression of chorioretinal atrophy on fundoscopy after 15 months, plasma ornithine levels: 386 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