| Individual ID |
00413613 |
| Associated disease |
- |
| Phenotype details |
no relevant personal medical history, no familial history of night blindness or retinal disease besides high myopia on father side; best corrected visual acuity and refraction right; left eye: 20/80, -9(-1)160deg ; 20/63 -6(-1.50)20deg; color vision desaturated Farnworth 15Hue: a tritan axis defect; kinetic visual field tests: bilateral abnormalities with a relative preservation of the central 30deg with the III4e stimulus; full field electroretinogram: undetectable for both scotopic and photopic responses in keeping with severe rod-cone dysfunction; multifocal electroretinogram responses: undetectable; fundus: optic nerve pallor, narrowed retinal vessels, pigment clumping in retinal periphery some of which resembling more to coarse numular pigment rather than classical bone spicules, as well as perifoveal atrophic changes; short-wavelength fundus autofluorescence: hypo-autofluorescent lesions in the periphery as well as in the perifoveal area; spectral domain optical coherence tomography: thinning of the outer retinal layers |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
rod-cone dystrophy |
| Age/Examination |
32y (32 years) |
| Age/Diagnosis |
- |
| Age/Onset |
<15y |
| Phenotype/Onset |
night vision disturbances and progressive visual field constriction |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-07-20 14:09:32 +02:00 (CEST) |
| Date last edited |
2022-07-20 14:15:21 +02:00 (CEST) |
