phalangeal epiphyseal dysplasia

Vitreoretinopathy with Epiphyseal Dysplasia

Clinical Characteristics

Ocular Features:

The axial length is relatively normal in this disorder. The vitreous is described as highly disorganized but without membranes or the usual lamellar array. Lattice degeneration may be seen in all quadrants and rhegmatogenous retinal detachments are a lifelong risk, occurring as early as the second decade of life.

Systemic Features:

This is a unique type of type II collagenopathy with joint and vitreous disease. Patients do not have the short stature or midface hypoplasia of Kniest dysplasia (156550) nor the optically empty vitreous of Stickler syndrome type I (609508, 108300) caused by mutations in the same gene. The arthropathy secondary to the epiphyseal dysplasia is mainly in the fingers but some patients do have premature degenerative hip disease. The fingers are described as ‘stubby’.

Genetics

Mutations in the COL2A1 gene, important for collagen formation, cause various autosomal dominant skeletal dysplasias and some [Stickler type I (609508, 108300) syndrome and Kniest dysplasia (156550)] including this one exhibit vitreoretinopathy. This is an example of allelic heterogeneity in which various alleles of COL2A1 cause clinically distinguishable phenotypes of bone and ocular disease. Collagen II is found in cartilage and vitreous perhaps accounting for the associated clinical findings.

Pedigree:

Autosomal dominant

Treatment

Treatment Options:

Retinal detachments, of course, require repair. The lifelong risk of detachments requires monitoring.

References

Article Title:

A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment

Richards AJ, Meredith S, Poulson A, Bearcroft P, Crossland G, Baguley DM, Scott JD, Snead MP. A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):663-8.

PubMed ID:

15671297

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule

Richards AJ, Morgan J, Bearcroft PW, Pickering E, Owen MJ, Holmans P, Williams N, Tysoe C, Pope FM, Snead MP, Hughes H. Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule. J Med Genet. 2002 Sep;39(9):661-5.

PubMed ID:

12205109

The phenotypic spectrum of COL2A1 mutations

Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S, Itoh T, Nakashima E, Ohashi H, Ikegawa S. The phenotypic spectrum of COL2A1 mutations. Hum Mutat. 2005 Jul;26(1):36-43.

PubMed ID:

15895462

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