Phenotype #0000309108

Individual ID	00417692
Associated disease	GACR;OATD
Phenotype details	15y: decreased central vision and visual acuity, prominent presence of fundus flecks in the retina; fundus: optic disc waxy yellow, retinal vasculature thin; retinal pigment epithelium and choroid atrophied with the exception of the unatrophied retina around the optic disc and the fovea of the macula; large choroidal vessels clearly visible in the atrophied area, the sclera visible at the posterior pole, and the atrophied areas were flat and petal-like at the peripheral area; scattered pigment deposits were observed across the entire retina, all results confirmed by fluorescein angiography; macular hypofluorescence; fundus autofluorescence: autofluorescence only appeared in the macular area, around the optic disc and peripheral pole; macular optical coherence tomography: moderate thinning in the retinal nerve fibre layer, cystic oedema in the middle, loss of external limiting membrane and ellipsoid area, significant thinning of the choroid, and only minimal vascular wall reflex, subcentral foveal choroid partially atrophied, extracentral choroidal atrophy more pronounced, strong reflective belt on the sclera under the retina outside of the fovea; full-field electroretinogram: scotopic rod response b-wave heavily reduced, and the scotopic combined rod-cone response flat both eyes; refraction right / left eye: highly myopic (-12.00/-12.50 dioptres)
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	5y6m
Phenotype/Onset	night blindness and reported gradual dark blindness
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-21 20:37:35 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD

PLAU (plasminogen activator, urokinase)

Phenotype #0000309108