Phenotype #0000311012

Individual ID	00419732
Associated disease	-
Phenotype details	2m: nystagmus and poor vision noted at the age of 2 months; never able to name colours; no other general medical condition; no family history of eye disease; ocular examination: best-corrected visual acuity: 6/60 bilaterally; mildly myopic; anterior segment: unremarkable with a clear visual axis; fundoscopy: symmetrical, well-demarcated excavated lesions at the central macula of both eyes, peripheral retina unremarkable; fundus autofluorescence: macular lesions hypoautofluorescent with a mildly hyperautofluorescent border; optical coherence tomography: deep, excavated lesions with loss of inner and outer retinal layers in both eyes; the left eye possibly had an associated scleral protrusion; electrophysiological examination: rod-specific (DA 0.01) and bright flash dark-adapted (DA 10.0) electroretinograms: no clinically significant abnormality; mildly subnormal dark-adapted 10.0 a-wave amplitude, not uncommon in patients lacking a cone photoreceptor contribution to the dark-adapted a-wave; 30-Hz flicker electroretinograms: undetectable; detectable low-amplitude single-flash photopic electroretinograms (LA 3.0) with the b-wave timing (approximately 50 ms) and shape suggestive of an S-cone origin; pattern electroretinograms: severe reduction in both eyes, indicating severe macular dysfunction
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	achromatopsia
Age/Examination	27y (27 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-10-21 19:41:59 +02:00 (CEST)
Date last edited	N/A