Colobomatous microphthalmia: Description, Causes and Risk Factors of Colobomatous microphthalmia:A congenital defect occurring along an embryonic fissure in a small eye, sometimes associated with cysts.Isolated colobomatous microphthalmia is caused multiple mutations and usually inherited in an autosomal dominant pattern. Type 1 is an X-linked disorder with typical features of small eyes, small corneas, colobomas, and elevated intraocular pressures (IOP).The combination of colobomas and microphthalmia is found in numerous heritable syndromes but also occurs in isolation. X-linked syndromes with this combination usually include mental retardation and cataracts but these are absent in the isolated type described. A locus on the X chromosome was identified to lie either on the proximal short arm or the proximal long arm but no specific mutation or gene has been identified. In the single multigenerational reported family, all affected individuals were male except for one female in whom non-random X-inactivation was postulated.Colobomatous microphthalmia RESEARCH: Researchers studied a five-generation family of Sephardic Jewish origin that included 38 members, of whom 7 have either unilateral or bilateral microphthalmia of variable severity inherited as an autosomal dominant trait with incomplete penetrance. After exclusion of several candidate loci, we performed a genome-scan study and demonstrated linkage to chromosome 15q12-q15. Positive LOD (logarithm of odds) scores were obtained with a maximum at the D15S1007 locus (maximum LOD score 3.77, at recombination fraction 0.00). Haplotype analyses supported the location of the disease-causing gene in a 13.8-cM interval between loci D15S1002 and D15S1040.Symptoms of Colobomatous microphthalmia:Signs and symptoms may include:Heart disease.
Diagnosis Colobomatous microphthalmia:The diagnosis of is based on clinical examination and imaging studies including: A-scan ultrasonography to measure total axial length; B-scan ultrasonography to evaluate the internal structures of the globe; and CT scan or MRI of the brain and orbits to evaluate the size and internal structures of the globe, the optic nerve and extraocular muscles, and brain anatomy. Evaluation for other malformations, assessment of hearing, chromosome analysis, family history, and parental eye examinations may help establish the underlying cause. Molecular genetic testing for isolated cases is available on a research basis only.Treatment of Colobomatous microphthalmia:There is no cure for this condition. Sometimes the child may have other conditions or complications that may require monitoring. Prosthetic eyes can be fitted to the empty eye sockets which can sometimes involve surgery for reasons such as putting implants into the socket to make it easier to fit the prostheses. Prostheses are not just for cosmetic purposes but also help to promote the growth of the eye socket. Conformers, which are a bit like balloons that can be expanded inside the socket, are sometimes used to further encourage the growth of the socket.NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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