MRCS

Clinical features are variable in this ocular disorder. Small corneas and shallow anterior chambers have been described in some patients.  Chronic narrow angle glaucoma or frank angle closure glaucoma attacks may occur.  Microphthalmia has been reported but nanophthalmos has not been documented.  Presenile cataracts, nystagmus, and strabismus are sometimes present.  Some patients have normal vision but others have a severe reduction in acuity, even blindness.

The vitreous is often liquefied and some patients have a fibrillary vitreous with pleocytosis.  Preretinal white dots and neovascularization are often seen, even in children.  Peripapillary atrophy may extend to the macula which may have cystic edema.  Peripherally in annular fashion there is often a pigmentary retinopathy extending to an equatorial demarcation line at the posterior border.  The ERG is usually moderately abnormal with evidence of rod and cone dystrophy generally in older patients in which some degree of dyschromatopsia is often present.  Some patients demonstrate a concentric reduction in visual field that progresses with age.  A reduced light/dark ratio has also been documented in several families.  Retinal detachment is a risk.  A posterior staphylomas has been noted in a few patients.