Phenotype #0000304445
| Individual ID |
00412440 |
| Associated disease |
- |
| Phenotype details |
no distortions, floaters, or flashing lights; best-corrected visual acuity right, left eye: 20/40-2 , 20/60-2; intraocular pressure 20 / 19 mmHg anterior segment examination: unremarkable; fundoscopy right eye: normal optic nerve with a cup-to-disc ratio of 0.1 bilaterally; fovea normal, large area of retinal atrophy along the inferior arcade, attenuated vasculature in the area of the dystrophic retina; periphery: bone spicule pigmentation along the inferonasal quadrant; fundoscopy left eye: similar findings, bone spicules in the inferotemporal quadrant; color scanning laser ophthalmoscopy: the area of retinal dystrophy largely confined to the inferior retina outside the vascular arcades; inferonasal perivascular pigmentary clumping and bone spicule formation in both eyes; ultra-wide-field fundus autofluorescence: ultra-wide-field fundus autofluorescence: lack of the bull's-eye pattern of the maculae, relative increase in the area of the dystrophic retina. The atrophic area measured 286 sq. mm in right eyed 281.5 sq. mm in left eye. The hyperreflective autofluorescent area: 247.1 sq. mm in right eye and 240.9 sq. mm in left eye; optical coherence tomography: severe perifoveal ellipsoid zone disruption; central subfield thickness right/left eye: 158 / 190 um, photoreceptor layer - 35 um in right eye and 41 um in left eye; degree of retinal atrophy much more pronounced compared to his mother; optical coherence tomography-angiography: revealed a large area of superficial capillary nonperfusion corresponding to the area of retinal degeneration - 690 sq. mm in right eye and 596 sq. mm in left eye; visual fields: more severe visual field loss; electroretinography: full-field electroretinogram: b-wave amplitudes were attenuated in both scotopic and photopic conditions; scotopic electroretinogram b-wave amplitudes (at 0.01 electroretinogram and 3.0 electroretinogram scotopic modes): 100.2 (normal 225.4+/-101.4), 63.1 (312.9+/-134.1); photopic electroretinogram b-wave amplitude: 51.48 (normal 123.6+/-50.93) in right eyotopic electroretinogram b-wave amplitudes: (at 0.01 electroretinogram and 3.0 electroretinogram scotopic modes): 84.82 (normal 225.4+/-101.4), 76.8 (312.9+/-134.1); photopic electroretinogram b-wave amplitude: 54.32 (normal 123.6+/-50.93) in left eye |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
38y (38 years) |
| Age/Diagnosis |
- |
| Age/Onset |
<18y |
| Phenotype/Onset |
nyctalopia |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-06-28 15:08:17 +02:00 (CEST) |
| Date last edited |
N/A |
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