Phenotype #0000302285

Individual ID	00410181
Associated disease	-
Phenotype details	onset of recent vision loss coincided with the diagnosis of an autoimmune thyroid disease; 36y: floaters, photopsia and reduced peripheral field sensitivity without visual acuity loss (6/6 in both eyes; between 37-50 years visual acuity right, left eye: declined to 6/12, 6/76; Humphrey field test: significant decline in visual field index (VFI) from 73% and 64% to 42% and 32%, in the right and left eyes; refractive error right, left eye: 0.25/- 0.50 x 34, 0.25/- 0.50 x 151; clear lens, no vitritis and normal intraocular pressure; fundus: retinal arteriolar attenuation without the typical bony pigment spicules; small round hyperpigmented lesion was noted initially in the nasal fundus, pigmented lesions and hypoautofluorescent spots increased in numbers 4 years later. Fundus autofluorescence: oval ring of increased signal in the foveal region and a preserved uniform signal in the periphery; optical coherence tomography: diffuse thinning of the outer retinal layers without macular oedema and a greater macular volume in the left eye compared to the right eye (5.83 mm3 vs. 5.72 mm3) despite lower visual acuity; a mild epiretinal membrane was present in the extrafoveal . Scotopic electroretinography response: undetectable, photopic: electronegative; scotopic response did not improve after 12 h of dark-adaptation in the left eye; photopic 30 Hz flicker and single flash (3.0 cd s/m2) electroretinography showed severe delay and reduction (Fig. 2). 13y prior full field dark-adapted electroretinography: profoundly reduced b-wave moderately reduced and delayed a-wave and b-wave with standard flash; light adapted flicker (30 Hz), single flash electroretinograms: delayed and reduced b-waves. Pattern electroretinography: only marginally reduced; recent acceleration of visual field and acuity losses and the development of an electronegative-type electroretinography.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinal degeneration
Age/Examination	50y (50 years)
Age/Diagnosis	-
Age/Onset	36y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-19 17:41:47 +02:00 (CEST)
Date last edited	N/A