Phenotype #0000314430
| Individual ID |
00423226 |
| Associated disease |
JBTS |
| Phenotype details |
born by caesarean section after 38 weeks of an uncomplicated pregnancy; birth weight of 3000 g (11th pc); walked independently and pronounced his first words at about 2 years of age; during infancy speech difficulties that required speech therapy; attended school with a mild learning difficulty, but he graduated from high school, he lives independently and is employed as an informatic technician; 39y years, weight: 81.9 kg (96th centile), height: 172.5 cm (45th centile), occipito-frontal circumference: 56.5 cm(48th centile); 25y: visual impairment; best corrected visual acuity right, left eye: 20/80, 20/40, refraction: sphere −5 = cylinder −2 alpha 180deg; Ishihara color vision test: inability to read any pseudoisochromatic plate except for the test plate; intraocular pressure: 16 mmHg both eyes; biomicroscopy: lenses: clear in both eyes; fundus examination: a waxy pallor of the optic disc with a circumpapillary atrophy, and widespread dystrophy of the retinal pigment epithelium with bone spicule-shaped pnt deposits in mid-periphery; optical coherence tomography: reduced macular thickness and retinal pigment epithelium dystrophy in both eyes, and vitreoretinal interface syndrome left eye; fundus autofluorescence: focal areas of hypoautofluorescence at the posterior pole, with foveal hyperautofluorescence in the right and foveal hypoautofluorescence in the left eye, Goldmann visual field: concentric constriction to central 10deg–20deg measured with a III4e and V4e target, respectively; scotopic and photopic; electroretinogram responses: below the noise lev |
| Diagnosis/Initial |
retinitis pigmentosa |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Joubert syndrome |
| Age/Examination |
39y (39 years) |
| Age/Diagnosis |
- |
| Age/Onset |
25y |
| Phenotype/Onset |
night blindness and reduced visual acuity |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-11-12 08:33:01 +01:00 (CET) |
| Date last edited |
N/A |
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