Phenotype #0000309102

Individual ID	00417668
Associated disease	GACR;OATD
Phenotype details	presented with history of progressive night blindness and visual impairment over several years; no family history of similar complaints; systemic examination: unremarkable; serum ornithine levels: markedly elevated (697 umol/l, reference range 19-81 umol/l); best corrected visual acuity: 6/120 both eyes; refractive error: right / left eye: - 4.0-1.25 X 40 / -7.50 -1.50 X 155; visual fields: constricted; slit-lamp examination: bilateral posterior subcapsular cataracts; fundoscopy: bilateral sharply demarcated circular areas of chorioretinal atrophy involving the mid-periphery, the posterior pole relatively spared of these lesions, large round atrophic lesion at the temporal side of the right's eye macula and several tiny spots of atrophy along the superior temporal arcade, both foveal reflexes blunted, suggestive of central macular edema; fundus autofluorescence: loss of autofluorescence corresponding to areas of atrophy at periphery, hyperautofluorescent ring within the macula, center of this ring exhntense foveal autofluorescence, there elevated pinkish-yellow lesions with occasional tiny spots of calcification over both optic discs - their clinical and ultrasonography appearance consistent with optic nerve astrocytic hamartoma (rarely associated with gyrate atrophy); at presentation spectral domain optical coherence tomography exams right / left eye: bilateral severe central macular edema with central macular thickness of 670 um / 565 um; after 3 months of treatment (diet and pyridoxine), a significant decrease in serum ornithine levels from 697 to 450 umol/l measured, and marked improvement in central macular edema seen (central macular thickness reduced by 270 / 161 um); bilateral visual improvement - best corrected visual acuity right, left eye: 6/30, 6/21, waning of the central autofluorescence intensity; 18m follow-up, the patient failed to adhere to treatment and serum ornithine concentrations has elevated back to 589 umol/l - despite this increment, macular thickness and vision remained stable
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))
Age/Examination	28y (28 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-21 12:32:41 +02:00 (CEST)
Date last edited	2022-09-21 12:34:10 +02:00 (CEST)