====== Bardet-Biedl Syndrome ======
====Main Features====
  * Dysfunction of Brain, eye, kidneys and genitalia 
  * [[ciliopathies|Ciliopathy]]
====Eye Findings====
  * Retinal degeneration (almost 100%)
    * Rod-cone dystrophy with early macular involvement
      * Pigmentary changes in macula first 
      * ERG 
    * Symptoms in order of presentation 
      * Nyctalopia age 4-8 years
      * Progressive peripheral vision loss
      * Decline of color vision
      * Legal blindness by 20-30 years old


  * Strabismus
  * Cataracts
  * Astigmatism

==Bardet-Biedl Syndrome Retinopathy Clinical Grading System==

^ Grade  ^ Description              ^ Subtypes  ^ Clinical Features                                                                                                                                        ^
| 0      | Normal                   |           | None                                                                                                                                                     |
| 1      | Preclinical Retinopathy  |           | No fundoscopic evidence of retinopathy but evidence of reduced visual function (acuity, visual fields, ERG)                                              |
| 2      | Clinical Retinopathy     | 2c        | Central disease with foveal atrophy                                                                                                                      |
| :::    | :::                      | 2p        | Peripheral disease with pigmentary reinopathy                                                                                                            |
| :::    | :::                      | 2g        | Global disease with central and peripheral involvement but no features of stage 3                                                                        |
| 3      | End-stage retinopathy    |           | Advanced central and peripheral involvement, which may include extensive scarring, vascular attenuation, choroidal atrophy, and significant disc pallor  |
**Adapted from Dennison AK et al. Retina 2014;34:2282-2289**
====Other Findings====
   * Obesity
   * Postaxial polydactyly
   * Renal anomalies
   * Learning disability
   * Hypogonadism and Genitourinary abnormalities
   * Cardiac defects
<WRAP round box>
{{ ::bardet-biedl_syndrome_diagnostic_features.png?800 |}}
From resource [1] below
</WRAP>

====Etiology====
  * Non-motile ciliopathy- dysfunction of the primary cilium.  
  * Autosomal Recessive
====Resources====
  - [[ https://www.dovepress.com/bardet-biedl-syndrome-current-perspectives-and-clinical-outlook-peer-reviewed-fulltext-article-TCRM|Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook. Melluso A et al. Therapeutics and Clinical Risk Management. 2023;19:115-132]] [[https://1drv.ms/b/c/31d83ae8e55e0542/EXfXe34FRcNGntsod7XOiYABm30Xp5UHpwLQy6rkNiCbMg?e=iSH8sS |-]]
  - [[https://pubmed.ncbi.nlm.nih.gov/25170860/ |Evaluation of Visual Function and Needs in Adult Patients with Bardet-Biedl Syndrome. Denniston AK et al. Retina 2014;34:2282-2289]] [[https://1drv.ms/b/c/31d83ae8e55e0542/EdXrpV6MFu9Ar_MXVbCbGu0BtxvjXfyqDIRYd4yt_QUt1w?e=MujaFj|-]]

{{tag>syndrome}}