Syndromes with overlapping features
A recent review summarizes the clinical features of inherited vitreoretinopathies and points out the importance of consulting an expert ophthalmologist in diagnostic assessment of the disease .
Autosomal dominant vitreoretinopathies
Snowflake vitreoretinal degeneration (SVD) (OMIM 193230). Both SVD and VCAN-related vitreoretinopathy exhibit vitreous abnormalities including fibrillar condensation, gel liquefaction, and marked thickening of the cortical vitreous. In SVD, however, membranous degeneration of the vitreous with avascular strands and veils is not observed. Retinal defects start in the superficial retinal layers, whereas in VCAN-related vitreoretinopathy they start in the deep retinal layers and choroid; retinal detachment is uncommon; and the retinal crystalline snowflake-like deposits that give the disease its name are common. Mutations in KCNJ13 are causative .
Stickler syndrome (OMIM 108300, 184840, 604841). Stickler syndrome, or hereditary arthroophthalmopathy, is most often a systemic disorder associated with a skeletal dysplasia (spondyloepiphyseal dysplasia) and craniofacial abnormalities, including cleft palate. Retinal detachment is much more common in Stickler syndrome (50%) than in VCAN-related vitreoretinopathy (15%). Abnormal dark adaptation associated with alterations in the ERG that is common in VCAN-related vitreoretinopathy has not been described in Stickler syndrome. Two different and specific
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