Phenotype #0000309100

Individual ID	00417647
Associated disease	GACR;OATD
Phenotype details	6m: serum ornithine concentration 145 umol/l; 2y8m: 952 umol/l; fundus: retinal degeneration in the superior peripheral area in both eyes; 4y: decimal best-corrected visual acuity right/left eye: 1.0/1.2; 7y: constricted visual fields of the I-4 and V-4 isopters; electroretinograms 10y: rod, standard-combined, cone, and 30-Hz flicker ERGs non-recordable; photographic montages at 12y: retinal degeneration similar to retinitis pigmentosa in the entire periphery of both eyes, chorioretinal atrophy at the superior retinal arcade in the right eye; time-domain optical coherence tomography: macular thinning; 17 y best-corrected visual acuity right/left eye: 0.7 / 0.9; no subcapsular cataract in either eye; funduscopic examination: definite posterior expansion of the chorioretinal atrophy; fundus autofluorescence: loss of autofluorescence in the peripheral chorioretinal atrophic areas and ring-shaped hyperautofluorescence around the macula in both eyes; spectral-domain optical coherence tomography moderate cystoid spaces within the inner nucleus layer (INL) and an abnormally thin outer nuclear layer with a few smaller cysts in both eyes; marked splitting of the INL in the temporal area of his left eye; compared to the findings obtained at 7y the visual fields of both the I-4 and V-4 isopters became more constricted at 17y; 2y8m: initially placed on an arginine-restricted diet until he was 9 years of age, his serum ornithine concentrations were well controlled; after 9y serum ornithine concentrations began to increase and remained above the normal range
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))
Age/Examination	17y (17 years)
Age/Diagnosis	2y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-21 10:22:33 +02:00 (CEST)
Date last edited	N/A