Spherophakia with Inguinal Hernia Clinical CharacteristicsOcular 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. GeneticsA 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 dominantTreatmentTreatment Options: Lens extraction may be necessary for vision rehabilitation if it is partially displaced. ReferencesArticle Title: Dominant microspherophakia Johnson VP, Grayson M, Christian JC. Dominant microspherophakia. Arch Ophthalmol. 1971 May;85(5):534-7. PubMed ID: 5087595 Read more about Spherophakia with Inguinal Hernia
Dominant microspherophakia Johnson VP, Grayson M, Christian JC. Dominant microspherophakia. Arch Ophthalmol. 1971 May;85(5):534-7. PubMed ID: 5087595
