Phenotype #0000307755

Individual ID	00415985
Associated disease	-
Phenotype details	decreased visual acuity and a history of hemeralopia and photophobia for several years; best-corrected visual acuity right, left eye: 20/150, 20/100; pupils, extraocular movements, confrontational visual fields, intraocular pressures, and anterior segment examination findings: normal limits; color vision: 3/6 on Hardy-RandRittler plates in both eyes; fundus: bilateral macular atrophy with retinal pigment epithelium changes and pale optic nerves with peripapillary atrophy, right eye: moderately dense asteroid hyalosis; fundus autofluorescence: bilateral patchy, central hypoautofluorescence surrounded by a ring of high-density hyperautofluorescence in the macula; spectral-domain optical coherence tomography: diffuse outer retinal atrophy as evidenced by loss of inner-outer segment continuity and loss of outer nuclear layer-outer plexiform layer normal architecture as well as granular changes corresponding to the hyperreflective crystalline lesions seen on fundus examination; mean full-field electroretinograms and respective stereotypical tracings: significant delays and amplitudinal loss in the photopic cone and 30-Hz flicker ERGs indicating generalized cone system dysfunction; bipolar cell-corresponding b-waves reduced compared with the photoreceptor-specific a-wave; dim-flash, scotopic rod electroretinograms (0.01 candelasxs/m2): profoundly delayed b-waves, bright-flash, maximum cone and rod electroretinograms (11 candelasxs/m2): a significantly increased amplitude along with a prolonged b-wave
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	cone dystrophy with supernormal rod electroretinogram
Age/Examination	47y (47 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-19 14:53:27 +02:00 (CEST)
Date last edited	N/A