Natural History
VCAN-related vitreoretinopathy comprises the phenotypic continuum of Wagner vitreoretinal degeneration (Wagner syndrome) and erosive vitreoretinopathy (ERVR), two disorders that were previously thought to be distinct entities based on clinical findings. Wagner syndrome, the first reported inherited vitreoretinal degeneration, was described by Wagner . ERVR was described in 1994 as a new clinical entity with some features that overlapped with Wagner syndrome .
Vitreoretinal degeneration
As described by Wagner , the hallmark of VCAN-related vitreoretinopathy is progressive degenerative changes of the vitreous (syneresis) and the vitreoretinal interface beginning at a young age. Syneresis can lead to massive liquefaction of the vitreous such that on slit-lamp examination the vitreous cavity appears optically empty ("empty vitreous") with pockets of liquefied vitreous that are usually lined by avascular strands and veils. Preretinal vitreous membranes that span the whole equator of the eye are characteristic. Ocular changes show considerable inter- and intrafamilial variability.
The first signs usually become apparent during early adolescence, but onset can be as early as age two years .
No gender-specific difference in the occurrence or frequency of any particular ocular features has been observed.
The vitreous degeneration, which is assumed to be the primary pathology, leads to a number of secondary changes, including presenile cataract,
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