User:Engcilia25/Microphthalmia

UPDATES TO 'CITATION NEEDED':

 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

UPDATE AND ADD PHOTOS

Microphthalmia (Greek: μικρός mikros = small; ὀφθαλμός ophthalmos = eye), also referred as microphthalmos, is a developmental disorder of the eye in which one (unilateral microphthalmia) or both (bilateral microphthalmia) eyes are abnormally small and have anatomic malformations. Microphthalmia is a distinct condition from anophthalmia and nanophthalmia. Although sometimes referred to as 'simple microphthalmia', nanophthalmia is a condition in which the size of the eye is small but no anatomical alterations are present. [1] [6]

(IMPROVED WORDING, ADDED 'ANOPHTHALMIA' AND LINKED, ADDED EXPLANATION FOR NANOPHTHALMOS)

Presentation

Microphthalmia is congenital disorder in which the globe of the eye is as unusually small and structurally disorganized. [1] [7] While the axis of an adult human eye has an average length of about 23.8 mm, a diagnosis of microphthalmia generally corresponds to an axial length below 21 mm in adults.[6] [9] Additionally, the diameter of the cornea is about 9-10.5 mm in affected newborns and 10.5-12 mm in adults with the condition.[6] The presence of a small eye within the orbit can be a normal incidental finding but in many cases it is atypical and results in visual impairment. The prevalence of this conditions is around 1 in 10,000 births, and it affects roughly 3-11% of blind children. [4] [5] [6]

(UPDATED AND ADDED CITATIONS FOR PREVALENCE RATES, ALTERED WORDING, ADDED ADDITIONAL INFO ABOUT PRESENTATION, CHANGED "MOST" TO "MANY" AND CITED THIS INFO, SPECIFIED MEASUREMENTS FOR CONDITION, CHANGED "BLINDNESS" TO "VISUAL IMPAIRMENT")

Diagnosis

Microphthalmia is often diagnosed soon after birth. The initial diagnosis usually occurs after an external inspection of the eyes through the lid. [6] In addition to a visual examination, measurements of the cornea are used in the diagnosis of this condition. [6] An ultrasound may also be conducted to confirm whether the axial length of the eye is clinically below average (i.e. at least 2 standard deviations below the age-adjusted mean). [6] [9]

When a case of microphthalmia is detected, the patient should visit an eye specialist as soon as possible. It is important for an ophthalmologist to conduct a thorough examination within the first 2 weeks following birth [8] This type of physician will confirm the preliminary diagnosis and look for signs of other anomalies in both eyes. These abnormalities may include coloboma, optic nerve hypoplasia, retinal dystrophy, and cataract.[8] Ultrasound may also be used to determine the presence of any internal eye issues, which may not otherwise be visible. [8] It is possible for patients with microphthalmia to have some vision in the affected eye(s). For this reason, the vision of infants with microphthalmia should be evaluated early on, even in severe cases[8]. Pediatric visions tests along with electrodiagnostics are typically used to assess visual acuity [8].

(THIS SECTION WAS EMPTY -- NO INFO AVAILABLE, SO DID RESEARCH AND FOUND REFERENCES -- WROTE ENTIRE SECTION -- ADDED CITATIONS AND LINKS TO WIKIPEDIA ARTICLES)

Treatment

Microphthalmia cannot be cured. However, there are treatments options to manage the condition and its associated symptoms. When the affected eye(s) display some visual function, a patient's eyesight can be improved (sometimes up to good state) by plus lenses, as a small eye is usually far-sighted.[8] When one of the eyes is unaffected, caution should be taken to guard this 'good' eye and preserve its vision. In these unilateral cases, eye glasses may be worn to offer a measure of physical protection.[6][8]

A key aspect of managing this condition is accounting for the small volume of the eye. The small orbit size characteristic of mircrophthalmia can impact the growth and structural development of the face after birth. As a result, microphthalmia can cause hemifacial asymmetry. [6][8] This possibility is a particular concern for individuals with unilateral cases of microphthalmia. With one eye of average size, the asymmetry often becomes much more severe as the child ages.[8] An axial length of less than 16 mm indicates that a microphthalmic eye's growth will not be sufficient, and intervention will be necessary to reduce the degree of facial asymmetry.[8]

Minimizing facial asymmetry is important for cosmetic and structural reasons.[6] [8] [9] In order to address the size discrepancy of the affected eye(s), it is important to to begin eye socket expansion early in life. The face reaches 70% of its adult size by roughly 2 years of age, and 90% of its adult size by about 5.5 years of age.[8] Additionally, the symmetry fostered by early socket expansion allows for a better prosthetic fit later in life.[8][9] Typically, an infant begins wearing a conformer, or an unpainted prosthesis, in the first weeks of life.[6] [8] [9] The conformer is repeatedly replaced with a prothesis of a slightly larger size. This process, which takes place during the first 5 years of life, gradually enlarges the eye socket.[6] [8] [9] Socket expansion through the use of implants of increasing size is also an effective alternative strategy.[6][8]

After socket expansion is complete, a painted prosthetic eye can be worn for cosmetic reasons.[8] If the microphthalmic eye has functional vision, an affected individual may opt against wearing a painted prothesis. Lenses are also sometimes used for cosmetic purposes, such as a plus lease to enlarge the microphthalmia eye.[8]

(THIS SECTION WAS VERY SPARSE -- ONLY A COUPLE OF SENTENCES, AND NOT CITED -- RESEARCHED AND FOUND REFERENCES -- WROTE MAJORITY OF SECTION/ADDED MOST OF THE PRESENT INFO -- ALSO TRIED TO MAKE SOME OF EXISTING LANGUAGE LESS TECHNICAL, "hyperopic")

Causes

(ADDED CITATIONS WHERE NEED WAS INDICATED)

 ASSOCIATED SYNDROMES AND COMORBIDITIES ?

also examine early on for "associated systemic abnormalities" -- external abnormalities of face, cardiac system, genitals + check for feeding and metabolic disturbances [8]

"prevalence of extraocular abnormalities has a fairly large range of 33–95%" [9]

Magnetic resonance imaging (MRI) -- confirm brain functioning displays no abnormalities (" Since many conditions that affect ocular development also affect brain development") [8]

Also Renal ultrasonography and assess for intrauterine infections -- associations [8]

Also important to explore genetics of particular case -- genetic assessment and look closer at family members, assess for Microphthalmia and related conditions such as "anophthalmia...anterior segment malformation, glaucoma, coloboma, retinal dystrophy, and optic nerve hypoplasia" [8] --> INHERITANCE PATTERNS

''

"Glasses are prescribed for refractive error, protection, [8]''

XXXAlso Horizontal palpebral fissure length (HPF) measurements --> assess facial symmetry [9]XXX

''XXX May need "orbital osteotomies" in severe cases -- also Conjunctival sac and lid reconstruction may be beneficial to the overall cosmetic effect. [6]XXX''

''XXX"Endo-orbital volume replacement using implants of progressively increasing size can be used to stimulate expansion of the developing bony orbit, usually after six months of age." -- "progressively larger acrylic shapes with or without moulding of the socket under anaesthesia" or "hydrophilic expanders has allowed a relatively non-invasive start to the expansion process and a reduction in the number of initial visits to hospital needed to produce satisfactory socket expansion" [6] [8]XXX''

XXXExpandable or static -- if static, change 3-5 times before puberty -- expandable can present limitations/complications [6]XXX

XXX"Clear shapes will need to be fitted initially in the case of eyes with a positive VEP, or with a good-sized eye with a cornea. In bilateral cases, this will need to continue throughout life " [8]XXX

XXX"Ocular prostheses are used when the orbit has developed adequately, and are changed regularly with further orbital expansion" [6] --XXX

XXXExpansion should also occur in cases with ocular cysts -- "by 2–4 years of age the sockets of most affected children have developed sufficiently for the orbital cyst to be removed" [8]XXX

(NEW) References --> NUMBERING NO LONGER APPLICABLE (NEED TO REDO IF FUTURE WORK)

6--> 4.

5. "Microphthalmia: MedlinePlus Genetics". medlineplus.gov. Retrieved 2021-03-30.

2 --> 6. Verma, Amit S.; FitzPatrick, David R. (2007-11-26). "Anophthalmia and microphthalmia". Orphanet Journal of Rare Diseases. 2 (1): 47. doi:10.1186/1750-1172-2-47. ISSN 1750-1172. PMC 2246098. PMID 18039390.

3 --> 7. Williams, Antionette L.; Bohnsack, Brenda L. (2015). "Neural crest derivatives in ocular development: Discerning the eye of the storm". Birth Defects Research Part C: Embryo Today: Reviews. 105 (2): 87–95. doi:10.1002/bdrc.21095. ISSN 1542-9768. PMC 5262495. PMID 26043871.

10 --> 8. Ragge, N. K.; Subak-Sharpe, I. D.; Collin, J. R. O. (2007-10). "A practical guide to the management of anophthalmia and microphthalmia". Eye. 21 (10): 1290–1300. doi:10.1038/sj.eye.6702858. ISSN 1476-5454.

4 --> 9. Groot, Annabel L. W.; Kuijten, Maayke M. P.; Remmers, Jelmer; Gilani, Asra; Mourits, Daphne L.; Kraal‐Biezen, Elke; Graaf, Pim de; Zwijnenburg, Petra J.; Moll, Annette C.; Tan, Stevie; Saeed, Peerooz (2020). "Classification for treatment urgency for the microphthalmia/anophthalmia spectrum using clinical and biometrical characteristics". Acta Ophthalmologica. 98(5): 514–520. doi:10.1111/aos.14364. ISSN 1755-3768. PMC 7497250. PMID 32100474.