Case report.
RESULTS: A 14 year old girl of Mahgrebian origin presented with a longstanding subtotal RRD in the right eye. Subsequently 6 family members in 3 generations have been identified with the same COL2A1 mutation. 4 eyes lost perception of light and 1 eye was enucleated.
Stickler syndrome is the commonest inherited cause of rhegmatogenous
retinal detachment (RRD). These tend to be complex and to occur at young age, frequently affecting both eyes. Other ocular features consist of high
myopia, optically empty vitreous cavity, posterior radial paravascular lattice-type degeneration,
cataract and
glaucoma. Non-ocular findings include midface hypoplasia, musculoskeletal changes and
hearing loss. In severe cases the disorder will readily be suspected. In mildly affected patients, clinical diagnosis can be quite difficult. Therefore, all family members of a Stickler patient should be offered molecular genetic testing. Stickler patients benefit from a multidisciplinary approach, including audiologic examination. They should be informed about the symptoms associated with
retinal tears and
retinal detachment and have priviliged access to the ophthalmic care unit. In case of RRD,
vitrectomy is the preferred surgery. Prophylaxis of RRD in
Stickler syndrome patients consisting of a 360 degrees peripheral
cryotherapy or
photocoagulation has been proposed. Practical guidelines for follow up or thresholds for initiating treatment have not been formulated.
CONCLUSIONS: