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--- prader_willi_syndrome [2024/05/20 08:41] – oculoman
+++ prader_willi_syndrome [2024/05/20 09:22] (current) – oculoman
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 ====== Prader-Willi Syndrome ======
-decreased visual acuity, iris and choroid hypopigmentation, refractive error, and strabismus[23][24]. Other ocular findings include cataracts, congenital ocular fibrosis syndrome, diabetic retinopathy, nystagmus and congenital ectropion uvea[23][24]. A study using data from 908 participants in the Vision Survey in the Global PWS Registry found that the prevalence of strabismus of Prader-Willi syndrome is 40%, and that 91% of those with strabismus were diagnosed before 5 years old. 42% of Prader-Willi syndrome patients with strabismus had strabismus surgery[25]. 41% of patients had myopia, 25% had hyperopia, 25% had astigmatism, and 16% had amblyopia[25]. There is also an overlap between Prader-Willi Syndrome and oculocutaneous albinism that is attributed to the deletion of the OCA2 gene found in the PWS critical region[24].
+====Main Features====
+  * Neonatal
+    * Neonatal hypotonia
+    * Failure to thrive
+    * Genital hypoplasia
+    * Hypopigmentation of the skin, iris, and hair
+  * Childhood
+    * Excessive eating and gradual development of morbid obesity
+    * Delayed Motor milestones and language development
+    * Cognitive impairment
+====Eye Findings====
+  * decreased visual acuity
+  * iris and choroid hypopigmentation
+  * refractive error
+    * Myopia 40%
+    * Hyperopia 25%
+    * Astigmatism 25%
+  * Amblyopia 16%
+  * Strabismus 40%
+    * congenital ocular fibrosis syndrome
+  * cataracts
+  * diabetic retinopathy
+  * nystagmus
+  * congenital ectropion uvea
+  * Signs of oculocutaneous albinism can occur if deletion of the OCA2 gene which is found in the PWS critical region
+====Other Findings====
+  * Short stature and growth hormone deficiency
+  * Delayed or incomplete secondary sexual characteristics
+  * Obesity complications
+    * Sleep apnea
+    * Diabetes mellitus
+    * Atherosclerosis
+  * Epilepsy
+  * Scoliosis
+  * Behavioral problems and learning difficulties similar to autism spectrum disorder
+  * Scoliosis
+====Etiology====
+  * loss of the paternal copy of chromosome region 15q11-q13
 ==== References ====
   * [[https://eyewiki.aao.org/Prader-Willi_Syndrome|EyeWiki Article]]
+  * [[https://www.ncbi.nlm.nih.gov/books/NBK1330/#:~:text=Prader%2DWilli%20syndrome%20(PWS)%20is%20a%20complex%2C%20multisystem,short%20stature%20if%20untreated%20with|Gene Reviews]]
 {{tag>syndrome}}