Phenotype #0000304285
| Individual ID |
00412281 |
| Associated disease |
- |
| Phenotype details |
20y after the first symptoms appeared treated with pulse therapy due to the appearance of bilateral pericentral scotomas mistakenly attributed to neuritis: no improvement; pericentral and paracentral scotomas and nyctalopia slowly progressed up until 51y; 53y: best corrected visual acuity (refraction) right, left eye: 20/20 (-2,50 spherical), 20/30 (-3,0 spherical); complete dyschromatopsy left eye, blue-green right eye; normal ocular motricity, pupils reactions and anterior segment in both eyes (both eyes); applanation tonometry: 12 mmHg both eyes; binocular indirect fundoscopy: diffuse pallor of the optic discs, generalized vascular thinning, disperse pigment spicules on the four quadrants also coming close to the posterior pole, macular alterations on pigment epithelium plane and internal surface reflexes; superficial micro-hemorrhage cluster near to left optic disc; visual fields with sensitivity alterations on all quadrants and with better perceptions in the lower hemifields of both eyes; the mean deviation, pattern SD, and visual fields indices altered in both eyes; fundus autofluorescence: inferior and temporal perimacular islands of hypo-autofluorescence in the central zone of both eyes; fluorescein angiography:preserved filling times, diffuse hypofluorescence of both discs, extensive defects in window (retinal pigment epithelium atrophy either isolated or combined with the choriocapillaris), reaching the edges of the superior and inferior temporal vascular arcades, hypofluorescence caused by spicules in both eyes; optical coherence tomography and optical coherence tomography angiography: foveal thickness right eye 255 um, left eye 321 um; presence of bilateral epiretinal membrane, more significant in left eye, with disappearance of clivus and formation of folds; bilateral sectoral discontinuities in the ellipsoid zones, points of non-perfusion in the outer retina and central choriocapillaris and peri-discs, without corresponding to pigments; visual evoked potential: alterations in the bilateral occipital cortical response, with reduction in wave amplitude and morphology, with increased retino-cortical conduction time in both eyes; electroretinogram: overall and significant reduction in cell responses at all structural levels and at all stages of the examination in both eyes; accentuated impairment of rods and with greater intensity in left eye; electrooculogram: subnormal retinal pigment epithelium functional responses, with an Arden index of 1.20 in both eyes; comorbidities: beta-blocker for systemic arterial hypertension and hearing impairment (hearing aid) |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
53y (53 years) |
| Age/Diagnosis |
- |
| Age/Onset |
10y |
| Phenotype/Onset |
hypoacusis, progressive myopia, nyctalopia |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-06-27 10:02:53 +02:00 (CEST) |
| Date last edited |
N/A |
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