Phenotype #0000301615
| Individual ID |
00409498 |
| Associated disease |
BCD |
| Phenotype details |
27y: night vision difficulties; more rapid vision loss during the course of two pregnancies; over the next 20 years, the vision in the right eye continued to decline to a current best corrected visual acuity right, left eye: of 20/200 (1.0 logMAR), 20/50 (0.4 logMAR); visual fields: progressive loss of sensitivity, greater in the pericentral region between 10 deg and 20 deg from fixation, with eventual development of scotomas that deepened and enlarged with time; full field electroretinography: initially normal in both eyes (27y), slowly declined over time, became statistically significant at 39y ; relatively symmetric progressive attenuation of rod-dependent and cone-dependent responses in both eyes; multifocal electroretinography: markedly attenuated central macular cone-dependent function, notably worse in the right eye; perimetry also showed asymmetric central and paracentral scotomas with the III4e and V4e isopters that were worse in the right, which deepened and enlarged especially over the past several years; III4e isopter area shows a progressively steep decline during ages 39-46. Retinal crystalline deposits visualised on colour photography and infrared imaging; corneal limbal crystalline deposits did not manifest clinically until 33y; wide-field fundus autofluorescence: confluent hypoautofluorescence of the posterior pole correlating with extensive retinal pigment epithelium atrophy in both eyes; 47y some intact macular autofluorescence remained, correlating with residual retinal pigment epithelium and better visual acuity in the left eye. Early phase wide-field fundus autofluorescence: confluent hyperfluorescent window defect of the posterior pole with patchy hypofluorescent choroidal atrophy; 44y, cystoid macular oedema (CME), worse in the right eye on optical coherence tomography |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
dystrophy, corneoretinal, crystalline, Bietti (BCD) |
| Age/Examination |
47y (47 years) |
| Age/Diagnosis |
- |
| Age/Onset |
25y |
| Phenotype/Onset |
reduced visual acuity in the right eye - 20/50 (0.4 logMAR) |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-05-09 15:31:45 +02:00 (CEST) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
