Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and ... Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005). - Genetic Heterogeneity of Isolated Microphthalmia MCOP2 (610093) is caused by mutation in the CHX10 gene (142993) on chromosome 14q24. MCOP3 (611038) is caused by mutation in the RAX gene (601881) on chromosome 18q21.3. MCOP4 (613094) is caused by mutation in the GDF6 gene (601147) on chromosome 8q22.1. MCOP5 (611040) is caused by mutation in the MFRP gene (606227) on chromosome 11q23. MCOP6 (613517) is caused by mutation in the PRSS56 gene (613858) on chromosome 2q37.1. MCOP7 (613704) is caused by mutation in the GDF3 gene (606522) on chromosome 12p13.1. MCOP8 (615113) is caused by mutation in the ALDH1A3 gene (600463) on chromosome 15q26.
Cecchetto (1920) reported a pedigree in which 2 brothers, each married to a first cousin, had a child with bilateral clinical anophthalmia. The common grandparents were also first cousins. Hesselberg (1951) reported affected children from first-cousin parents. Sorsby ... Cecchetto (1920) reported a pedigree in which 2 brothers, each married to a first cousin, had a child with bilateral clinical anophthalmia. The common grandparents were also first cousins. Hesselberg (1951) reported affected children from first-cousin parents. Sorsby (1934) discovered early reports of affected sibs with normal parents. Ashley (1947) reported an affected Japanese brother and sister. Warburg (1993) gave a comprehensive phenotypic and etiologic classification of microphthalmos and ocular coloboma. She included the description of a consanguineous Arab family showing that the phenotype in autosomal recessive microphthalmos may include congenital cystic eye, anophthalmos, microphthalmos, or coloboma. Some affected family members were mentally retarded, while others were mentally healthy. Gill and Harris (1959) reported a family in which the proband and her great-aunt had microphthalmos. Wolff (1930) described a family of 10 children whose parents were first cousins and among whom 3 males and 2 females had microphthalmos, high-grade hyperopia (up to +20d), and glaucoma. Holst (1952) observed 6 cases in 2 related sibships. Oliveira da Silva and Santana de Sousa (1981) used the term 'clinical anophthalmia' for this condition, to signify that clinically the eye appears to be absent, whereas in fact it is only very small. They described an instructive inbred kindred with 4 affected individuals in 3 separate sibships. Bessant et al. (1999) reported the phenotypic findings in affected individuals in a Pakistani family in which microphthalmia showed linkage to 14q32 (Bessant et al., 1998). All affected individuals had bilateral microphthalmia associated with anterior segment abnormalities, and the best visual acuity achieved was 'perception of light.' Corneal changes included partial or complete congenital sclerocornea (see 181700 and 269400), and the later development of corneal vascularization and anterior staphyloma. Intraocular pressure was greatly elevated in many cases. Sclerocornea has been observed in association with microphthalmia as part of the MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome (309801).