Phenotype #0000306970

Individual ID	00415170
Associated disease	-
Phenotype details	best corrected visual acuity: 20/200 both eyes; refractive error right, left eye: of -2,5 dioptres (D), -2,0 D; anterior segment: normal; intraocular pressure right, left eye: 13, 15 mmHg; biometry: normal axial length of 24.6 mm on both eyes; fundoscopic examination: diminished foveal reflexes, and subtle retinal pigment epithelium mottling; spectral domain optical coherence tomography: subfoveal optical gap with sharp vertical edges, inner segment/outer segment junction line absent but the external limiting membrane well preserved; hyperreflective dots, presumably representing remnants of degenerating photoreceptors visible in the optical gap; fundus autofluorescence showed a small oval shaped subfoveal area of reduced fundus autofluorescence corresponding to the subfoveal gap observed on optical coherence tomography; small, deep optic nerve head drusen noted on ultrasonography; electrophysiology: dim flash dark adapted electroretinograms (DA 0.01): profoundly delayed b waves, bright flash dark adapted electroretinograms (DA 10.0): normally developing a waves with a broadened trough and high amplitude b waves, photopic flicker and single flash electroretinograms: delayed and reduced, indicating a generalised retinal cone system dysfunction; pattern electroretinograms: not detectable, in keeping with severe macular dysfunction
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	cone dystrophy with supernormal rod electroretinogram
Age/Examination	37y (37 years)
Age/Diagnosis	-
Age/Onset	15y
Phenotype/Onset	decreasing visual acuity and light sensitivity
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-09 11:23:44 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD

FUCA1 (fucosidase, alpha-L- 1, tissue)

Phenotype #0000306970