Phenotype #0000307299

Individual ID	00415514
Associated disease	-
Phenotype details	grade 1 NCMD retinal changes with best-corrected visual acuity: 20/25 both eyes; asymptomatic, previously told he had macular abnormalities; fundus: classic yellow intermediate-size drusen characteristic of grade 1 lesions. spectral domain optical coherence tomography:fine depositions at the level of the retinal pigment epithelium with overlying intact inner segment and outer segment photoreceptor junctions; inner retina and specifically the amacrine cells in the inner nuclear layer: normal; optical coherence tomography angiograms: no choroidal neovascularization , choroid normal, retinal vasculature shows an absence of the foveal avascular zone along with an absence of the umbo that is cDonsistent with fovea plana; autofluorescence: normal appearing; minimally reduced foveal sensitivity on microperimetry results, slight eccentric fixation in the left eye; multifocal electroretinography: mildly to moderately reduced amplitudes throughout the maculae; full-field electroretinography: normal, including the oscillatory potentials
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	North Carolina macular dystrophy
Age/Examination	64y (64 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-14 16:47:31 +02:00 (CEST)
Date last edited	N/A