Phenotype #0000309105

Individual ID	00417680
Associated disease	GACR;OATD
Phenotype details	history of hypothyroidism, dementia, and type II diabetes, 67y: worsening vision due to retinal degeneration (diagnosis of retinitis pigmentosa); progressively constricting visual fields in both eyes and nyctalopia; 65y: bilateral cataract extraction; at presentation taking levothyroxine for hypothyroidism and metformin and glipizide for diabetes; most recent hemoglobin A1c level: 7.6% six months before presentation; best corrected visual acuity right, left eye: 20/25, 20/50; fundus: preservation of the retinal pigment epithelium around the macula bilaterally with distinct borders and preservation of retinal pigment epithelium islands in the periphery, along with some intraretinal pigment migration; preserved retinal pigment epithelium islands with very distinct borders that coalesced into a "scalloped" pattern; short-wavelength fundus autofluorescence: bilateral retinal pigment epithelium atrophy that encroached from the periphery and surrounds the central macula - sharply demarcated boundary between the spared and atrophied retinal pigment epithelium; spectral-domain optical coherence tomography: extensive choroidal sclerosis and degeneration in the areas of retinal pigment epithelium atrophy; retinal degeneration evident in areas of retinal pigment epithelium atrophy with thinning of the outer nuclear layer; full-field electroretinogram: scotopic rod-specific and maximal responses extinguished, photopic 30 Hz-flicker amplitudes right / left eye: diminished to 5.6 uV / 3.7 uV in the left eye; sample of urine: elevated level of ornithine, 1906 umol/g (normal: 0-24); start on vitamin B6 supplementation 400 mg/day, baseline plasma amino acid levels obtained and the ornithine level 586 umol/l (normal: 20-135), after two weeks of treatment with vitamin B6, plasma ornithine levels decreased to 419 umol/l. 69y: no changes in vision; best corrected visual acuity right, left eye: 20/40, 20/60; fundus autofluorescence: minimal disease progression as suggested by the area of retinal pigment epithelium atrophy as compared to the previous visits; optical coherence tomography angiography: spared retinal pigment epithelium around the central macula with paramacular areas of retinal pigment epithelium atrophy; choriocapillarie's’ appearance in the spared retinal pigment epithelium homogenous as expected, but the areas of retinal pigment epithelium atrophy show the individual larger choroidal vessels from Sattler's and Haller's layers, which become visible as the overlying retinal pigment epithelium and choriocapillaries’ atrophy; plasma ornithine level obtained at this visit 445 umol/l
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))
Age/Examination	67y (67 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-21 15:02:58 +02:00 (CEST)
Date last edited	2022-09-21 15:05:31 +02:00 (CEST)