Clinical Characteristics
Ocular Features
Individuals with this condition have small spherical lenses that are usually displaced superiorly. Myopia, both lenticular and axial, is often present and retinal detachments can occur. Glaucoma was reported in one patient but this followed surgery for a retinal detachment. Iridodenesis and nystagmus may be present. The single report mentions strong zonules that created difficulties during intracapsular lens removal. None of the spherical lenses were reported to migrate into the anterior chamber nor was lens-induced glaucoma present.
Systemic Features
Inguinal hernias are the only systemic manifestation of this disorder. Four of 11 affected individuals in the family reported required surgery. Physical examination and skeletal measurements were used to rule out the Marfan and Weill Marchesani syndromes.
Genetics
Inheritance
A single family with 11 affected individuals in 4 generations has been reported. The four generation pedigree suggested autosomal dominant inheritance but nothing is known regarding the mutation or locus.
Spherophakia is a clinically and genetically heterogeneous disorder and usually found in association with systemic findings. It is commonly seen in the Weill-Marchesani syndrome 1 (277600), in Weill Marchesani syndrome 2 (608328), in the Weill-Marchesani-Like syndrome (613195), in a condition known as ‘megalocornea, ectopia lentis, and spherophakia’ (?), and in a syndrome known as ‘spherophakia and metaphyseal dysplasia’ (157151). Autosomal recessive isolated spherophakia (251750) has been found in several families.
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