User:Engcilia25/sandbox

UPDATES TO 'CITATION NEEDED':

The incidence is 14 per 100,000 and the condition affects 3-11% of blind childrenundefined.[ citation needed]

https://medlineplus.gov/genetics/condition/microphthalmia/#frequency

https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-47
 * Microphthalmia occurs in approximately 1 in 10,000 individuals. (update citation)
 * 3.2 – 11.2% of blind children (update citation)
 * 14 in 100,000 prevalence (update citation)

''Genetic causes of microphthalmia include chromosomal abnormalities (Trisomy 13 (Patau syndrome), Triploid Syndrome, 13q deletion syndrome, and Wolf-Hirschhorn Syndrome) or monogenetic Mendelian disorders. The latter may be autosomal dominant, autosomal recessive or X linked.[ citation needed]''


 * SOURCE



''Mutations in MITF gene are thought to be responsible for this syndrome. The human MITF gene is homologous to the mouse MITF gene (aka mouse mi or microphthalmia gene); mouse with mutations in this gene are hypopigmented in their fur. The identification of the genetics of WS type 2 owes a lot to observations of phenotypes of MITF mutant mice.[ citation needed]'' http://www.nature.com/naturegenetics


 * MITF mice (update citation)
 * Waardenburg syndrome

According to this study the annual incidence of congenital microphthalmia in the United Kingdom was 10.8 (8.2 to 13.5) in 1999 and 10.0 (7.6 to 12.4) in 2011[ citation needed]

https://www.semanticscholar.org/paper/da9dd00f20feaef6a85580eda5fec8ef83f5aa21 --> Already referenced, update citation

https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-47

PRESENTATION:

https://onlinelibrary.wiley.com/doi/full/10.1002/bdrc.21095 https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-47
 * Condition marked by "small, disorganized globe" of eye


 * "neonatal and adult human eye are approximately 17 and 23.8 mm"
 * "corneal diameter is less than 10 mm, and the antero-posterior diameter of the globe is less than 20 mm"
 * "eye with axial length two standard deviations below that of the population age-adjusted mean; this typically correlates to an axial length below 21 mm in adult eyes"

https://onlinelibrary.wiley.com/doi/full/10.1111/aos.14364


 * 2 standard deviations

CAUSES:

Genetics

https://doi.org/10.1007/s00439-020-02212-9

https://journals.lww.com/co-ophthalmology/Fulltext/2011/09000/The_genetics_of_anophthalmia_and_microphthalmia.2.aspx
 * Paired-box (PAX) genes --> transcription factors -- control development and differentiation of tissues
 * Mutations in PAX genes associated with microphthalmia, anophthalmia, coloboma

DIAGNOSIS & TREATMENT:

https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-47


 * inspection and palpation of the eye through the lids; measurements of corneal diameter

https://doi.org/10.1038/sj.eye.6702858 https://onlinelibrary.wiley.com/doi/full/10.1111/aos.14364
 * CLINICAL DIAGNOSIS, MANAGEMENT & TREATMENT
 * Focuses on Postnatal Diagnosis


 * Mentions importance of prothesis for facial structure
 * Discusses Horizontal palpebral fissure length (HPF) measurements for diagnosis

SYNDROMES & COMORBIDITIES:

https://doi.org/10.7759/cureus.12928

https://onlinelibrary.wiley.com/doi/full/10.1002/bdrc.21095 https://jmg.bmj.com/content/39/9/623
 * Minor criterion of PHACE syndrome (present in <20%)
 * neural crest cell specification and early migration --> issues can lead to microphthalmia and coloboma (via issues with blood vessel formation, etc.)
 * can be associated with ocular coloboma
 * CHARGE syndrome --> associated with Coloboma as well as Microphthalmia -- abnormalities of eyes as well as heart, brain, craniofacial structure, and genitourinary system
 * Much unknown about different conditions and syndromes, connections and genetics underlying

https://onlinelibrary.wiley.com/doi/full/10.1111/aos.14364
 * Fraser Syndrome
 * See prevalence of Microphthalmia


 * Mentions findings regarding concurrent conditions

EPIDEMIOLOGY:

https://doi.org/10.1002/ajmg.a.40352 https://doi.org/10.1002/bdra.20237
 * Epidemiology, Texas
 * Epidemiology, Hawaii

SOCIETY AND CULTURE SECTION?