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anophthalmia
thumb|260px|(a) Bilateral anophthalmia. (b) Bilateral microphthalmia. (c) Unilateral anophthalmia with shell (right eye) Anophthalmia (Greek: ἀνόφθαλμος, "without eye") is the medical term for the absence of one or both eyes. Both the globe and the ocular tissue are missing from the orbit. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar prominence. Genetic mutations, chromosomal abnormalities, and prenatal environment can all cause anophthalmia. Anophthalmia is an extremely rare disease and is mostly rooted
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Research
1,942 papers- Anophthalmia and microphthalmia.Orphanet journal of rare diseases · 2007
- Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life.Ophthalmic genetics · 2022
- Anophthalmia and Microphthalmia.American journal of obstetrics and gynecology · 2019
- Mouse models for microphthalmia, anophthalmia and cataracts.Human genetics · 2019
Article
20 sectionsContents
- Classifications
- Associations
- Causes
- ''SOX2''
- ''RBP4''
- Other influential genes
- Environmental influence
- Chromosome 14
- Prenatal diagnosis
- Ultrasounds
- Amniocentesis
- Postnatal diagnosis
- MRI/CT
- Examination
- Treatments
- Prosthetic eye
- Cosmetic surgery
- Epidemiology
- References
- External links
thumb|260px|(a) Bilateral anophthalmia. (b) Bilateral microphthalmia. (c) Unilateral anophthalmia with shell (right eye) Anophthalmia (Greek: ἀνόφθαλμος, "without eye") is the medical term for the absence of one or both eyes. Both the globe and the ocular tissue are missing from the orbit. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar prominence. Genetic mutations, chromosomal abnormalities, and prenatal environment can all cause anophthalmia. Anophthalmia is an extremely rare disease and is mostly rooted in genetic abnormalities. It can also be associated with other syndromes.
==Classifications== There are three classifications for this condition: Primary anophthalmia is a complete absence of eye tissue due to a failure of the part of the brain that forms the eye. Secondary anophthalmia the eye starts to develop and for some reason stops, leaving the infant with only residual eye tissue or extremely small eyes which can only be seen under close examination. Degenerative anophthalmia the eye started to form and, for some reason, degenerated. One reason for this occurring could be a lack of blood supply to the eye.