| Bardet-Biedl-Syndrome | |
| Decreasing visual acuity since childhood (OD 0.2, OS 0.03), night-blindness, left exotropia; nystagmus. Fundus view reduced due to slight posterior subcapsular cataract; optic atrophy (left > right), thin retinal vessels and pigmentary changes like in retinitis pigmentosa. Kidney disease (Kidney operation intendet), polydactyly, adipositas, oligophreny and hypogonadism. | |
| Weilepp, Jana, Dr.med., Augenklinik mit Poliklinik, Universität Erlangen, Erlangen, Germany | |
| Q87.8 | |
| Congenital Syndromes, Malformations and Abnomalities -> Hereditary Syndromes -> Bardet-Biedl Syndrome | |
| 7051 |
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