Stickler Syndrome

☝ collagen type II ( COL2A1, Chr 12q13 and Chr 11q13.2)

☝collagen type XI (COL11A1, Chr 1p21)

✍ AD with complete penetrance with variable expressivity.

✍ It has both ocular and systemic manifestations and usually diagnosed during childhood.

✅ Stickler Syndrome Ocular manifestations

✍ Optically empty vitreous ( clear )

☝membranous vitreous strands ( COLL 2)

☝beaded fibrillary vitreous ( COLL 11 )

✍ high myopia range from – 8 to -18 D

✍ perivascular pigmentary changes( lattice-like pattern )

✍ Retinal holes and tears which can cause retinal detachment.

✍ Presenile cataract

☝ in patient below 45 years old.

☝coma or wedge shaped cortical cataract.

✍ Ectopia lentis

✍ Glaucoma

☝open angle glaucoma

☝normal tension glaucoma.

✅ Stickler Syndrome systemic associations

✍ Arthritis

☝degenerative changes on joints

☝ weight bearing joints( hip and knee)

✍ Hyperflexibility of the joints.

✍ Pierre Robin Sequence which can cause difficulties in breathing and feeding.

✍ Submucosal cleft palate with bifid uvula

✍ Small lower jaw which can cause dental problems and sometimes dental surgeries may be required.

✍ Midfacial flattening

☝ flattening of cheekbones ( maxilla and nose).

✍ Recurrent ear Infections.

✍ Sensorineural Deafness

☝ progressive

☝affects most individual at middle age.

✍ Mitral valve prolapse

✅ Stickler Syndrome Management guidelines

✍ it’s essentially a clinical diagnosis with no cure

✍ molecular genetic testing distinguish ocular from non-ocular variants (allows prophylaxis to be given at a younger age)

✍ Consider annual dilated fundoscopy.

✍ Prophylactic retinopexy can be tried due to

☝retinal detachments are common (up to 70%) and carry a poor prognosis with a high prevalence of giant retinal tears.

☝ Retinopexy reduces the retinal detachment rate to 8%.

☝Multidisciplinary care should be followed

☝Treat myopia early to prevent amblyopia.

☝Treat glaucoma by anti glaucoma medication or surgeries.

☝ treat significant cataracts.