Phenotype #0000305392

Individual ID	00413417
Associated disease	-
Phenotype details	62y: no history of visual problems (other than myopia) until 5th decade of life; 56y: best corrected visual acuity right, left eye: 20/60, 20/200; reading and distance vision decreased progressively over many years; color discrimination became difficult; no photosensitivity, no peripheral field or night vision complaints; no general health issues; 62y: visual acuity 20/200 (with no significant refractive error) both eyes; fundi: maculae granular and thinned in appearance; peripheral retina, optic nerve, vessel caliber: normal; macular functional abnormalities: retinal pigment epithelium disease apparent on en face imaging and retinal structural changes on cross-sectional imaging; optical coherence tomography: loss of central retinal lamination suggesting complete degeneration of rod and cone photoreceptors; by 10deg from the fovea, outer nuclear layer thickness returned to normal, beyond the perifoveal region mild thinning of both cone and rod outer segments extending across the width of the scan; electrophysiological and perceptual results suggested mild dysfunction across the retina of both rod and cone photoreceptor-driven function, and a severe loss of macular function; family history: 6 other members with visual symptoms, suggesting an autosomal dominant mode of inheritance, although there was no male-to-male transmission
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	macular dystrophy
Age/Examination	62y (62 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-18 10:06:09 +02:00 (CEST)
Date last edited	N/A