Phenotype #0000307147
| Individual ID |
00415350 |
| Associated disease |
- |
| Phenotype details |
whole family A description: visual field impairment and night blindness (nyctalopia) was emerged at the age of 30-34; perceived flashes of light (photopsia), searching nystagmus; posterior subcapsular lens opacities; best corrected visual acuity: two individuals with light perception (LP) and one with no light perception (NLP) bilaterally; refractive error: plano; confrontational visual field and color vision testing: sparing of the peripheral 5deg to 10deg and total achromatism; no capacity of visual fixation on an accommodative target held at 40 cm; fundoscopy: symmetrical involvement, arteriolar attenuation, retinal pigment epithelium atrophy, bone-spicule configuration, waxy pallor of the optic disc, macular scar and resolved cystoid macular edema; optic nerve atrophy with choroid involvement with most severe and extensive ophthalmoscopic findings; retinal nerve fiber layer optical coherence tomography: only retinal thinning and atrophy; spectral domain optical coherence tomography: retinal atrophy and epi-retinal membrane at both eyes; left eye retinal fold |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
cone-rod dystrophy |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
decreased sharpness of vision followed by increased sensitivity to light (photophobia) |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-12 15:04:09 +02:00 (CEST) |
| Date last edited |
N/A |
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