Phenotype #0000307573
| Individual ID |
00415795 |
| Associated disease |
- |
| Phenotype details |
decimal best-corrected visual acuity (BCVA) and refraction right / left eye: 0.09 with -1.5 diopters sphere (DS), -1.5 D cylinder (DC) ax 70deg / 0.08 with -2.75 DS, -2.0 DC ax 180deg; PD-15 test: several crossing lines between the deutan and tritan axes in both eyes - totally color-blind patient; Goldmann perimetry: central scotoma; slit-lamp and ophthalmoscopic examination: no abnormalities; fundus autofluorescence: no specific abnormal patterns ; spectral domain optical coherence tomography horizontal and vertical cross-sectional images: ellipsoid zone clearly intact; cone interdigitation zone unified with the ellipsoid zone, not identified distinctly; bulging of the ellipsoid zone at the central fovea (the foveal bulge) in the vertical image, but not in the horizontal scan images because the image was not centered; full-field scotopic electroretinograms amplitudes dark-adapted 0.01, 3.0, and 10.0: normal; photopic electroretinograms, light-adapted 3.0 and 30 Hz flicker: nonrecordable, indicating normal rod function and an absence of cone function; Adaptive optics (AO) retinal imaging: well-defined cone photoreceptor mosaics; images centered at 500 and 1000 lm nasal and temporal from the fovea - clearly defined cone mosaics; cone mosaic of the patient comparable normal eyes; cone density at the foveal center: too high, cone diameter: too small and exceeded the resolution limits of the camera in the eyes of both the patient and the controls; average axial length of both the patient’s eyes: 23.9 mm; cone densities: at 1000 lm from the fovea on both the nasal and the temporal sides: normal, at 500 lm from the fovea: 15-30 % lower than controls; value at 500 lm from the fovea was below the mean -2 standard deviation of that of the normal ey |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
complete achromatopsia |
| Age/Examination |
17y (17 years) |
| Age/Diagnosis |
- |
| Age/Onset |
0m |
| Phenotype/Onset |
severe photophobia, poor visual acuity, color blindness |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-16 12:45:46 +02:00 (CEST) |
| Date last edited |
N/A |
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