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Microphthalmia


Title


Other Names:
Isolated anophthalmia - microphthalmia; Isolated pure microphthalmia; Isolated anophthalmia-microphthalmia syndrome; Isolated anophthalmia - microphthalmia; Isolated pure microphthalmia; Isolated anophthalmia-microphthalmia syndrome; MAC spectrum; Microphthalmia-anophthalmia-coloboma spectrum; Isolated microphthalmia-anophthalmia-coloboma; Clinical anophthalmia; Primitive anophthalmia See More
Subtypes:
Anterior segment dysgenesis; Lenz microphthalmia syndrome; Microphthalmia associated with colobomatous cyst; Anterior segment dysgenesis; Lenz microphthalmia syndrome; Microphthalmia associated with colobomatous cyst; Microphthalmia syndromic 10; Microphthalmia syndromic 4; Microphthalmia syndromic 5; Microphthalmia syndromic 6; Microphthalmia syndromic 9; Microphthalmia with cataract 1; Microphthalmia with linear skin defects syndrome; Oculofaciocardiodental syndrome; Syndromic microphthalmia, type 3 See More

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2542

Definition
A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.

Epidemiology
The prevalence of microphthalmia is 1:7,000, anophthalmia is 1:30,000 and coloboma is 1:5,000 live births, with combined prevalence 3-30:100,000 births. Associated malformations affect 32-93% of the patients. There is no clear predilection for ethnicity or gender.

Clinical description
Microphthalmia-anophthalmia-coloboma (MAC) consists of phenotypic continuum of congenital eye defects that are manifest at birth. In some cases, such as retinal coloboma or mild microphthalmia, detection may occur later in life. True anophthalmia is the abortion of eye development at the developing optic vesicle stage (3-4 weeks gestation) leading to absence of the eye, optic nerve and chiasm. Commonly clinical anophthalmia (also referred to as severe microphthalmia) occurs, where a small cystic remnant is detectable on pathology/imaging. Nanophthalmos and posterior microphthalmia, are rare subsets of microphthalmia, where overall the eye is structurally normal but it has a reduced axial length of <20 mm with high hypermetropia. Ocular coloboma may involve the inferonasal aspect of the eye, including the iris, ciliary body, zonules, retina, retinal pigment epithelium (RPE), choroid and/or optic disc.

Etiology
MAC has a complex etiology, with monogenic, chromosomal and environmental causes. SOX2, OTX2 and STRA6 variants account for 75% of bilateral anophthalmia/severe microphthalmia. Chromosomal abnormalities account for 20-30% of MAC. Environmental factors associated with anophthalmia include maternally-acquired infections, smoking and perinatal exposure to certain medications. Maternal vitamin A deficiency, alcohol abuse and use of teratogenic drugs during pregnancy have been linked to coloboma and microphthalmia.

Diagnostic methods
Postnatal diagnosis can be made through clinical examination, with confirmation of true/clinical anophthalmia through MRI brain and orbit imaging. Molecular diagnosis can be made through genetic testing, such as array comparative genomic hybridization (aCGH) or whole exome/genome sequencing.

Differential diagnosis
Differential diagnoses includes aniridia, anterior segment dysgenesis, congenital corneal opacity, sclerocornea, cryptophthalmos, cyclopia and congenital cystic eye. MAC may also occur as part of various syndromes, and thus examination by specialists for the presence of systemic features (e.g. associated neurological or pituitary defects) is recommended. Genetic diagnosis may aid the identification of potential systemic anomalies.

Antenatal diagnosis
Prenatal diagnosis of anophthalmia or microphthalmia may be made through 2D or 3D ultrasonography during the second trimester (or 12 weeks post-conception with a transvaginal ultrasound) or fetal magnetic resonance imaging to visualize the orbit.

Genetic counseling
Genetic counselling can be challenging due to the range of known genetic causes and phenotypic variability. Prediction of inheritance pattern is often difficult, due to de novo changes, mosaicism and non-penetrance. If a genetic diagnosis is established, informed family planning advice can be provided including prenatal and preimplantation diagnosis.

Management and treatment
There is no treatment for MAC patients. They should be managed by a multidisciplinary team of specialists, including ophthalmologists, pediatricians and clinical geneticists. If there is visual potential, children should be monitored to maximize vision by correcting refractive error or squints, and preventing amblyopia. Fundus examinations are required in patients with chorioretinal coloboma as it is associated with a risk of retinal detachment. Low vision should be supported using visual aids. Significant microphthalmic or anophthalmic eyes may undergo socket expansion using enlarging cosmetic shells/conformers to minimize facial deformity.

Prognosis
Isolated MAC are structural birth defects with no treatment available.

Visit the Orphanet disease page for more resources.
Last updated: 11/1/2019

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Microphthalmia. This website is maintained by the National Library of Medicine.
  • The National Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic. 

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Microphthalmia. Click on the link to view a sample search on this topic.
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