Phenotype #0000337193

Individual ID	00448004
Associated disease	-
Phenotype details	see paper; ..., mild dark adaptation problems (some difficulties with driving at night); refraction OD -5.50/-0.75x114, OS -4.50/-1.00x88; best corrected visual acuity OD 20/20, OS 20/20 (47y); Goldmann VF OD and OS relative (peri)central scotoma, periphery intact; pink optic discs, mild attenuation of arterioles, foveal sparing, perifoveal RPE alterations, perimacular lipofuscine depositions, in periphery RPE alterations with a few intraretinal hyperpigmentations; OCT perifoveal ring with abnormal/absent EZ; FAF hyperautoflourescent perifoveal ring, macular region hypoautofluorescent dots, deep hypoautofluorescent areas OS>OD (not present at first visit), perimacular some 'flecks', abnormalities posterior pole seem to have a mild radiant pattern; full field ERG dark adapted responses (isolated rod and mixed), within normal values, light adapted responses (30Hz and single flash) severely reduced; sister diagnosed elsewhere with cone-rod dystrophy, brother diagnosed elsewhere with macular dystrophy, both with severely reduced central vision
Diagnosis/Initial	cone-rod dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Susanne Roosing
Database submission license
Created by	Johan den Dunnen
Date created	2024-02-09 14:03:00 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD