Phenotype #0000315395

Individual ID	00424200
Associated disease	-
Phenotype details	57y: best corrected visual acuity right/left eye: 0.9 / 0.7; fundus photographs: macular atrophy with foveal sparing and retinal atrophy around optic disc; fundus autofluorescence imaging or fluorescein angiography: hypo-fluorescence at macular with hyperfluorescence around the area; optical coherence tomography: visible ourter retinal layers and retinal pigment epithelium corresponding with fovea and disruption of almost all outer retinal layers and thinning of retinal pigment epithelium at other area; central visual field: ring-shaped scotoma within 20 degrees with preserved central sensitvity within 2 degrees; peripheral visual field: preserved; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: normal b-wave DA3.0: decreased a and normal b-waves DA10.0: not done DA200.0: not done LA3.0: severely decreased a- and b-waves 30hz flicker: severely decreased b-wave; 67y: best corrected visual acuity right/left eye: 0.15 / 0.05; fundus photographs: macular atrophy without foveal sparing and extension of retinal atrophy to peripheral retina; fundus autofluorescence imaging or fluorescein angiography: hypoautofluorescence within arcade vessels and peripheral retina corresponding with retinal atrophy area; optical coherence tomography: disruption of almost all outer retinal layers and a thinning retinal pigment epithelium at macular; central visual field: absolute central scotoma within 30 degrees; peripheral visual field: constricted; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: nonrecordable DA3.0: severely decreased a and b-waves DA10.0: severely decreased a and b-waves DA200.0: severely decreased a and b-waves LA3.0: severely decreased a- and b-waves 30hz flicker: severely decreased b-wave
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	cone dystrophy/cone-rod dystrophy
Age/Examination	57y (57 years)
Age/Diagnosis	-
Age/Onset	40y
Phenotype/Onset	decreased visual acuity
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-11-18 12:57:37 +01:00 (CET)
Date last edited	N/A