Phenotype #0000310736
| Individual ID |
00419450 |
| Associated disease |
SLSN |
| Phenotype details |
visual acuity was 20/20 in both eyes; slit-lamp examination: anterior segment of both eyes normal; color fundus photographs: both eyes unremarkable, without pigmentary changes, lesions or scars in the macula or periphery; visual field: no focal defects in both eyes; full-field electroretinogram after 30 minutes of dark adaptation, scotopic and photopic flash electroretinogram:decreased rod and cone response in both eyes; amplitude of the b-wave: reduced for the rod response (0.01, 3.0, and 10.0 scotopic) without an implicit time delay; b value of the dark-adapted electroretinogram (0.01): 36 uV right eye compared with 140 uV in the control patient; electroretinogram (3.0): 120 uV right eye compared with 212 uV in the control patient; electroretinogram (10.0): 152 uV right eye compared with 217 uV in the control patient; amplitude of both a- and b-waves of the cone response: bilaterally reduced compared to the age-matched control; b value of the light-adapted electroretinogram: 50 uV right eye in the patient and 143 uV in the control patient; no remarkable changes in 30-Hz flicker in either eye. histopathological analysis of kidney (nephrectomy): H&E staining of the patient's kidney sections showed a diffuse sclerosing tubulointerstitial process with a predominance of tortuous and atrophic tubules at the corticomedullary junction; enlarged cortical cyst formation present in the corticomedullary region, higher magnification - a thickened and multilayered tubular basement membrane (TBM); transmission electron microscopy: used to determine the impact of NPHP1 mutation on human primary cilia and TBM of renal epithelial cells: revealed an irregular TBM pattern, consisting frequently of two or three membrane layers which were folded excessively, while the lining of the tubular cysts was flattened; fewer primary cilia on the apical side of the tubular epithelial cells indicating renal cilia dysfunction, disorganized cilia in renal tubular cells of NPHP1 deficient kidney |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Senior-Loken syndrome (SLSN) |
| Age/Examination |
9y (9 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 |
2022-10-19 20:36:23 +02:00 (CEST) |
| Date last edited |
N/A |
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