Phenotype #0000308189

Individual ID	00416469
Associated disease	-
Phenotype details	best-corrected visual acuity: 20/25, 20/40 and remained stable in the following 2 years; history of smoking, no history of ocular trauma or inflammation; brother diagnosed with advanced neovascular age-related macular degeneration; slit-lamp examination of the anterior segment: normal; fundus: revealed healthy optic nerves with no disk pallor and normal retinal vasculature appropriate for age without significant thinning or attenuation, diffuse yellow flecks in the peripheral macula extending out into the mid-periphery; clustered, confluent patterns in the temporal macula arranged radially in the central macula; pigment stippling/mottling around the fovea; flecks autofluorescent with dark borders; spectral-domain optical coherence tomography: loss of foveal pit contour, inner retinal thickening, hyper-reflective inner limiting membrane in the left eye consistent with a developing epiretinal membrane; flecks visible as hyper-reflective deposits traversing photoreceptor layers emanating from the retinal pigment epithelium; ellipsoid zone and external limiting membrane layers are disrupted at the position of flecks, flecks of sufficient height impinged on the outer nuclear layer; microperimetry testing (10-2 visual field pattern): reduced visual sensitivity and function over flecked areas (10-16 dB); foveal fixation was stable (BCEA = 1.26 deg2) at 95.4%; full-field electroretinogram: single flash cone and 30-Hz flicker stimuli: normal waveform amplitudes and no implicit time delays indicating no generalized dysfunction of the cone system
Diagnosis/Initial	age-related macular degeneration (AMD)
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	late-onset pattern macular dystrophy
Age/Examination	63y (63 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-31 13:36:50 +02:00 (CEST)
Date last edited	N/A