Vitreoretinopathies Associated with Progressive Retinal Dysfunction

The remaining hereditary vitreoretinopathies described in this article are purely ocular disorders. Those that are associated with retinal dysfunction - Wagner syndrome, erosive vitreoretinopathy, Goldmann-Favre syndrome, and enhanced S-cone syndrome (ESCS) - all have measurable electrophysiological changes of the retina demonstrated by recording a subnormal electroretinogram (ERG).

Figure 4 Congenital, quadrantic, lamellar cataract seen in both type 1 and type 2 Stickler syndrome.

Wagner syndrome (OMIM #143200)

The most striking finding in Wagner syndrome is the thickening and incomplete separation of the posterior hyaloid membrane, which tends to occur in a circular band and is variously described as a veil, sheets, or ropes. A large range of chorioretinal abnormalities have been described with the typical finding being chorioretinal atrophy with pigment migration into the retina (Figure 11). Electroretinographic responses are progressively subnormal (Figure 12) and visual-field testing demonstrates ring scotomas with eventual loss of central visual acuity. The chorioretinal pathology results in gradual progressive visual loss in the absence of retinal detachment, and has a progressive course. There is an association with early-onset cataract and mild myopia. Wagner syndrome is also associated with large angle kappas indicative of an ectopic fovea (Figure 13).

Prognosis in Wagner syndrome is poor with progressive visuaL loss. The risk of rhegmatogenous retinal detachment with Wagner syndrome is higher than that of the normal population, but the incidence does not appear to be as high as that seen in the Stickler syndromes.

The term Jansen syndrome has been used to describe a hereditary vitreoretinopathy but the clinical features reported are consistent with Wagner syndrome and linkage has been demonstrated in the original family to the same area as the causative gene in Wagner syndrome. The syndrome referred to as erosive vitreoretinopathy is reported to be associated with vitreous changes, hemeralopia with accompanying grossly reduced rod and cone responses, progressive chorioretinal atrophic changes, and combined traction-rhegmatogenous retinal detachments. Affected family members also had large angle kappas.

Figure 5 Bifid uvula and high-arch palate in Stickler syndrome.

Figure 8 Spondyloepiphyseal dysplasia congenital demonstrating short stature and flattening of the midface.

Figure 6 Kniest dysplasia demonstrating shortening of trunk and limbs.

Figure 7 Interphalangeal dysplasia in Kniest dysplasia.

Mutations in the same gene that cause Wagner syndrome have been implicated in erosive vitreoretinopathy. It is likely both Jansen syndrome and erosive vitreoretinopathy are phenotypic variants of Wagner syndrome.

Goldmann-Favre syndrome/enhanced S-cone dystrophy (OMIM #268100)

Patients with Goldmann-Favre syndrome have liquefaction and fibrillar changes of the vitreous, night blindness, equatorial chorioretinal atrophy and pigment clumping, peripheral and macular schisis, cortical lens opacities, rod-cone dysfunction, and diffuse vascular leakage on fluorescein angiography. Goldmann-Favre syndrome is inherited as an autosomal recessive disorder and is now known to be caused by a mutation in the same gene that causes ESCS (the NR2E3 gene). ESCS is the only inherited retinal disease

Figure 9 Pectus excavatum in Marfan syndrome.

Which exhibits a gain in photoreceptor function, with patients showing enhanced sensitivity to blue (short wavelength) light, with night blindness and loss of sensitivity to long and medium wavelengths. The ERG findings in this group of disorders demonstrate undetectable rod-isolated responses and reduced combined rod-cone responses.

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