ABSTRACT
Diseases exhibiting prominent clinical retinal and vitreous abnormalities are categorized as ‘‘vitreoretinal’’ disorders. Electrophysiologic responses typically reflect the degree of retinal involvement in this group of rare conditions. X-linked retinoschisis previously considered as a vitreoretinal disorder is due to genetic mutations involving a protein expressed mostly in photoreceptors and is discussed in Chapter 10. Goldmann-Favre syndrome, a disorder that also demonstrates retinal and vitreous abnormalities, has similar ERG and genotypes as enhanced S-cone syndrome and is covered in Chapter 8. The outline of this chapter is as follows:
Stickler syndrome Wagner vitreoretinopathy Familial exudative vitreoretinopathy Autosomal dominant vitreoretinochoroidopathy Autosomal dominant neovascular inflammatory vitreo-
retinopathy
STICKLER SYNDROME
Stickler syndrome is an autosomal dominant disorder caused by mutations of the gene encoding type II collagen, COL2A1, which is located on chromosome 12 (1). The syndrome was described by Stickler et al. (2) in 1965 and termed ‘‘hereditary progressive arthro-ophthalmopathy.’’ Common ocular features include high myopia, vitreous syneresis, and rhegmatogenous retinal detachment with a high risk of multiple and giant retinal tears. Other ocular findings include cataract and retinal perivascular pigmentary clumping (Fig. 12.1). Common systemic features include arthropathy, cleft palate, sensorineural hearing loss, and midfacial hypoplasia. Genetic mutations producing Stickler syndrome show a high degree of heterogeneity, and clinical expression is highly variable both between and within families. Variations of the vitreous syneresis are associated with different genotypes (3). Stickler syndrome is categorized into two subtypes, the more common ocular Stickler syndrome (type 1) and ‘‘non-ocular’’ Stickler syndrome (type 2). Type 2 is associated with mutations on another collagen gene, COL11A1.
