Spherophakia with Inguinal Hernia
Patient Information
Characteristics
Background and History
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.
Clinical Correlations
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.
Genetics
Inheritance
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.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Diagnosis and Prognosis
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.
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