A single large 4 generation pedigree of this condition was reported in 1971. Spherophakia is a rare condition in which the lens of the eye is abnormally small and more spherical than usual. It may occur alone or in combination with other anomalies of the eye and skeletal system.
Individuals with this condition have abnormally small and spherically shaped lens that cause extreme nearsightedness. Many patients have poor vision and there is a high risk of retinal detachment. The only systemic abnormality seems to be frequent inguinal hernias.
Based on the single multigeneration pedigree reported, this seems to be an autosomal dominant condition. Affected parents can expect that half of their children will inherit the same condition.
This condition is most likely to be diagnosed by an ophthalmologist. Patients usually need glasses and need to be monitored throughout life for glaucoma and retinal detachments. The hernias require surgical repair.