Stickler Syndrome-part 2

I think that I would like to explore the indications for referral to the retina specialist or geneticist for a child as a pediatric stickler suspect.  This is a work in progress.  The specialist to whom the patent is sent needs to have a good background in Stickler Disease diagnosis otherwise the consultation will be wasted.  The child in the retinal photograph had seen a Physician with the father asking about Stickler Disease and was told that it was not Stickler disease despite the presence of a number of elements: high myopia, vitreous anomaly, cleft, hearing disorder and double jointedness. (I will check my medical record tomorrow to confirm this memory)

I would recommend that Ophthalmologists refer the following patients for evaluation by a Stickler Involved Physician:

1. Kids with a known Stickler parent 
2. Kids with pedigree showing retinal detachment in a parent especially if there is a second person, sibling or aunt or uncle that also increases the risk.  
3. Kids with the Pierre-Robin Sequence
4. Kids with cleft palate. 
5. Kids with Kneist Syndrome, Marshall Syndrome, and Spondyloepiphyseal Dysplasia Congenita.
6. Children with wedge shaped cataracts. 
7. Finally, the 3-years-old child with more than -3.00 diopter refractive correction.

After the pedigree exploration the clinical diagnosis of Stickler is moved along by recognition of the findings
Major Craniofacial Abnormalities:

• Midfacial Hypoplasia
• Cleft Palate
• Pierre-Robin Series

Hyperflexibilty
Hearing disorder

Eye Findings

• Vitreous Anomaly
• Wedge Shaped Cataract
• Atypical Lattice Degeneration of the Retina
• High Myopia

Finally, the blood tests are quite satisfactory except for the price.

The variability in severity of presentations is quite interesting, even within families one can find different elements.  I hope to gather photos to illustrate the different features above from my collection.