Phenotype #0000306639

Individual ID	00414840
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: 20/20, 20/40-3; Amsler testing: central scotoma in the left eye on; fundus: left eye a small round yellow foveal lesion; optical coherence tomography: disorganization and decreased reflectance of the foveal ellipsoid zone (EZ) and interdigitation zone (IZ), along with a small subretinal lucency; right eye - a much smaller foveal yellow spot with a corresponding smaller foveal area of disorganization and decreased reflectance of the EZ and IZ; fluorescein angiography and indocyanine green angiography: normal; short wavelength fundus autofluorescence: normal findings in the right eye and a subtle central area of increased autofluorescence in the left eye; multifocal electroretinogram: a small reduction in the central retinal response peak of the left eye; interocular difference in central response peaks statistically significant (P , 0.01); absolute amplitude of the central response peak in the left eye smaller than the surrounding hexagons, not seen in normal eyes; electrooculogram: not performed; causes of yellow foveal spots and/or outer retinal disruption such as solar retinopathy, laser pointer–induced maculopathy, alkyl nitrate abuse, tamoxifen retinopathy, achromatopsia, and cone dystrophy were ruled out by context, clinical examination, and multimodal imagi
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	adult-onset foveomacular vitelliform dystrophy
Age/Examination	25y (25 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	central scotoma of the left eye
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-05 12:52:43 +02:00 (CEST)
Date last edited	N/A