This 32YO male with Stickler syndrome is blind in his right eye following failed retinal detachment surgery elsewhere. Vision is 20/25 in his asymptomatic left eye.
There are prominent areas of pigmented paravenous lattice superiorly, with scattered veils of vitreous strands and condensations.
Learning Points:
Stickler syndrome is a usually autosomal-dominant genetic disorder characterized by defective vitreous collagen (types II, IX, and XI). The vitreous may be optically empty, or associated with vitreous strands and membranes, as in our patient.
Other ocular findings include high myopia and paravenous lattice degeneration. Patients have premature arthropathy with classic orofacial and auditory features.
Stickler syndrome is the most common cause for inherited rhegmatogenous retinal detachment, and prophylactic encircling retinopexy with laser or cryotherapy may be considered (see Fincham et al Ophthalmology 2014;121:1588-1597).
