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RETINAL DYSTROPHIES AND SYNDROMES

Hereditary Vitreoretinal Degenerations

Hereditary Vitreoretinal Degenerations - Start  
Hereditary Vitreoretinal Degenerations - End  

Three of the most prominent of the hereditary vitreoretinal degenerations are:  Stickler syndrome, Wagner syndrome, and Goldmann-Favré syndrome.

Stickler Syndrome

Stickler syndrome is characterized by the association of the ocular findings of retinal detachment and myopia with progressive arthropathy inherited as an autosomal dominant trait.

The ocular features of Stickler syndrome, with the exception of early cortical cataract, are primarily posterior segment findings. These include high myopia, vitreous degeneration, pigmentary retinopathy, chorioretinal atrophy, retinal breaks and detachment.

Wagner Syndrome

Wagner syndrome describes a condition limited to the eye, with features of myopia, vitreous degeneration, perivascular pigmentation, peripheral vessel sheathing, retinal degeneration and thinning, and atrophy of the choriocapillaris.

Goldmann-Favré Syndrome

Goldmann-Favré syndrome is an autosomal recessive vitreoretinal degeneration characterized by nyctalopia, progressive loss of central and peripheral vision, progressive cataract, pigmentary retinophathy, macular and peripheral retinoschisis, and vitreous degeneration.

 
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