Phenotype #0000307775
| Individual ID |
00416009 |
| Associated disease |
- |
| Phenotype details |
vision loss from childhood. ; during elementary school, her best corrected visual acuity was 0.3, elder brother similar symptoms; first examination: best corrected visual acuity and refraction right, left eye: 0.1 (spherical - 1.75 diopters (D) cylinder - 2.25 D Axis 130 deg), 0.09 (spherical - 8.00 D cylinder - 0.50 D Axis 135deg); slit lamp examination: no remarkable findings in the anterior segments and media; funduscopy: macular atrophy in both eyes; full field electroretinography: results: diminished amplitudes of b-waves for DA0.0005, decreased amplitudes and delayed peak time in b-waves for DA0.002 and DA0.01, increased b/a-wave ratio with a slightly diminished a-wave for DA3.0 and DA25.7, diminished a-wave and almost extinguished b-wave amplitudes for light-adapted (LA) 3.0, and extremely diminished amplitudes in LA 30-Hz flicker responses, compared with controls, peak time of LA 3.0 and LA 30-Hz flicker delayed; 31y: Ishihara test: failure of almost all plates except for the 1st and 14th plates in the right eye and the 1st, 7th, 14th, 15th, and 16th plates in the left eye, panel D-15 test: no errors in either eye; Goldmann visual field: preserved peripheral visual field and central scotomas of the I-3e and I-4e isopters within 10 degrees in both eyes; Farnsworth Munsell 100-hue tests: square roots calculated from the total error scores were 21.0 in the right eye and 24.1 in the left eye, with both of these square roots out of the normal range; 34y: funduscopy: enlarged macular atrophy in both eyes compared with that observed at the age of 30y; follow-up at the age of 45y: best corrected visual acuity remained at 0.1 in both eyes; funduscopy: macular atrophy with normal peripheral retina in both eyes; with the area of the macular atrophy enlarged; complete loss of autofluorescence corresponding with the macular atrophy, and there is hyper-autofluorescence surrounding the atrophy; spectral domain optical coherence tomography: horizontal B-scan 6 mm images macular thinning with loss of the outer nuclear layer, external limiting membrane, ellipsoid zone, interdigitation zone and retinal pigment epithelium which corresponded with the area of the macular atrophy observed in the funduscopy; full field electroretinography: no apparent change in any of the responses ; Goldmann visual field testing: preserved peripheral visual field and central scotoma of the V-4e isopters of about 10 degrees in both eyes (worsened) |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
cone dystrophy with supernormal rod electroretinogram |
| Age/Examination |
30y (30 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-20 20:22:47 +02:00 (CEST) |
| Date last edited |
N/A |
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