Phenotype #0000306923
| Individual ID |
00415122 |
| Associated disease |
- |
| Phenotype details |
spectacle correction in childhood, complaints of night and peripheral vision disturbances as well as difficulty with reading, mainly from the second decade of life; best corrected visual acuity: 20/30 with a refractive error of + 11.00 sphere in each eye; corneal curvatures: 52.00D spherical equivalent (normal mean - SD, 43.95 - 1.470), ultrasound A-scan: 16.4 mm (normal, 23.67 - 0.9), anterior chamber depth: 2.2 mm (normal, 2.9 - 0.3); corneal diameter and intraocular pressure: normal; near-infrared (NIR) reflectance images of the fundus: irregular margins of the optic nerve head, and peripheral retinal regions with chorioretinal atrophy and bone spicule-like pigment; autofluorescence: short wave- and NIR excitation consistent with a ~20deg diameter central region of retained retinal pigment epithelium-with normal or nearly normal signals originating from lipofuscin and melanin fluorophores, surrounding the central region was an annulus of hyperautofluorescence apparent in both SW- and NIR-RAFI; surrounding the hyperautofluorescent ring was an intermediate level of autofluorescence like that previously described in other forms of RP; optic disc drusen - small hyperautofluorescent dots on SW-RAFI; full field electroretinograms: abnormal: rod b-waves barely detectable (11 uV; normal, 299 - 52 uV); a mixed cone-rod ERG had reduced a- and b-wave amplitudes (awave, 33 uV [normal, 297 - 65 uV]; b-wave, 35 uV [normal, 497 - 111 uV]); and cone ERGs were reduced in amplitude (for single flash, 61 uV [normal, 173 - 32 uV]; and for flicker, 17 uV [normal, 172 - 35 uV]); rod sensitivity loss map by psychophysics: no detectable rod function in the far peripheral field, some retained rod sensitivity (between *1.5 and 2.5 log10 units reduced) in a wide region of the central field; cone sensitivity loss most evident in the nasal field, detectable cone function elsewhere in the field; at fixation, cone sensitivity within normal limits but reduced by 0.5-1.5 log10 units with increasing eccentricity into the temporal peripheral field; kinetic visual field: slight generalized constriction (more evident in the nasal field) to the V-4e target (70% of normal extent; 90% is 2 SD less than the normal mean); the I-4e target was detected only centrally (10% of normal extent; 90% is 2 SD less than the normal mean); optical coherence tomography: retinal thickness within normal limits across most of the retina except in the very central macula, the inner retina was significantly thicker than normal across the retinal area studied; outer nuclear layer (ONL) thicker than normal at the fovea, within normal limits in the parafoveal region, but thinner than normal across the remainder of the retina sampled, cross-sectional abnormal retinal laminar architecture; fovea devoid of a normal central depression and had substantial inner retinal lamination with a discernable inner nuclear layer (INL), microcystic changes anterior to the ONL, and considerable tissue vitreal to the INL; the deep hyporeflective layer had no cystic structures and measured 182.8 um (normal foveal ONL in the central 0.6 mm, 90.1 - 10.5 um; n = 16; age, 11-28 years); thickness across the central 4 mm within normal limits |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
19y (19 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 |
2022-08-08 14:48:41 +02:00 (CEST) |
| Date last edited |
N/A |
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