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 |