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Isolated microphthalmia 6(MCOP6)

MedGen UID:
462107
Concept ID:
C3150757
Disease or Syndrome
Synonym: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC
 
Gene (location): PRSS56 (2q37.1)
 
Monarch Initiative: MONDO:0013293
OMIM®: 613517

Definition

Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by Gal et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 (251600). [from OMIM]

Clinical features

From HPO
Amblyopia
MedGen UID:
8009
Concept ID:
C0002418
Disease or Syndrome
Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Retinal fold
MedGen UID:
115826
Concept ID:
C0229197
Finding
A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.
Raised intraocular pressure
MedGen UID:
68606
Concept ID:
C0234708
Finding
Intraocular pressure that is 2 standard deviations above the population mean.
Microcornea
MedGen UID:
78610
Concept ID:
C0266544
Congenital Abnormality
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Hyperopia, high
MedGen UID:
341009
Concept ID:
C1855925
Finding
A severe form of hypermetropia with over +5.00 diopters.
Scleral thickening
MedGen UID:
393147
Concept ID:
C2674403
Finding
Increased dimension of the sclera in the anterior-posterior axis.

Professional guidelines

PubMed

Qin Y, Zhong X, Wen H, Zeng Q, Liao Y, Luo D, Liang M, Tang Y, Guo J, Cao H, Yang S, Tian X, Luo G, Li S
Ultraschall Med 2022 Dec;43(6):e125-e134. Epub 2021 Mar 16 doi: 10.1055/a-1320-0799. PMID: 33728625
Busa T, Legendre M, Bauge M, Quarello E, Bretelle F, Bilan F, Sigaudy S, Gilbert-Dussardier B, Philip N
Prenat Diagn 2016 Jun;36(6):561-7. Epub 2016 May 12 doi: 10.1002/pd.4825. PMID: 27061523
Shah SP, Taylor AE, Sowden JC, Ragge N, Russell-Eggitt I, Rahi JS, Gilbert CE; Surveillance of Eye Anomalies Special Interest Group
Ophthalmology 2012 Feb;119(2):362-8. Epub 2011 Nov 4 doi: 10.1016/j.ophtha.2011.07.039. PMID: 22054996

Recent clinical studies

Etiology

Landau-Prat D, Kim DH, Bautista S, Strong A, Revere KE, Katowitz WR, Katowitz JA
Ophthalmic Genet 2023 Dec;44(6):547-552. Epub 2023 Jul 26 doi: 10.1080/13816810.2023.2237568. PMID: 37493047
Alkatan HM, Bedaiwi KM, Al-Faky YH, Maktabi AMY
Sci Rep 2022 Mar 28;12(1):5283. doi: 10.1038/s41598-022-09261-2. PMID: 35347187Free PMC Article
Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, Teär Fahnehjelm K
Ophthalmic Genet 2022 Apr;43(2):172-183. Epub 2022 Feb 2 doi: 10.1080/13816810.2021.1989600. PMID: 35105264
Qin Y, Zhong X, Wen H, Zeng Q, Liao Y, Luo D, Liang M, Tang Y, Guo J, Cao H, Yang S, Tian X, Luo G, Li S
Ultraschall Med 2022 Dec;43(6):e125-e134. Epub 2021 Mar 16 doi: 10.1055/a-1320-0799. PMID: 33728625
Galindo-Ferreiro A, Elkhamary SM, Alhammad F, AlGhafri L, AlWehaib M, Alessa D, Aldossari S, Akaishi P, Khadekar R, AlShaikh O, Schellini SA
Orbit 2019 Jun;38(3):192-198. Epub 2018 Oct 4 doi: 10.1080/01676830.2018.1521843. PMID: 30285524

Diagnosis

Landau-Prat D, Kim DH, Bautista S, Strong A, Revere KE, Katowitz WR, Katowitz JA
Ophthalmic Genet 2023 Dec;44(6):547-552. Epub 2023 Jul 26 doi: 10.1080/13816810.2023.2237568. PMID: 37493047
Holt R, Goudie D, Verde AD, Gardham A, Ramond F, Putoux A, Sarkar A, Clowes V, Clayton-Smith J, Banka S, Cortazar Galarza L, Thuret G, Ubeda Erviti M, Zurutuza Ibarguren A, Sáez Villaverde R, Tamayo Durán A, Ayuso C, Bax DA, Plaisancie J, Corton M, Chassaing N, Calvas P, Ragge NK
Ophthalmic Genet 2022 Dec;43(6):809-816. doi: 10.1080/13816810.2022.2144905. PMID: 36695497
Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, Teär Fahnehjelm K
Ophthalmic Genet 2022 Apr;43(2):172-183. Epub 2022 Feb 2 doi: 10.1080/13816810.2021.1989600. PMID: 35105264
Qin Y, Zhong X, Wen H, Zeng Q, Liao Y, Luo D, Liang M, Tang Y, Guo J, Cao H, Yang S, Tian X, Luo G, Li S
Ultraschall Med 2022 Dec;43(6):e125-e134. Epub 2021 Mar 16 doi: 10.1055/a-1320-0799. PMID: 33728625
Matsushita I, Morita H, Kondo H
Jpn J Ophthalmol 2020 Nov;64(6):635-641. Epub 2020 Aug 28 doi: 10.1007/s10384-020-00766-9. PMID: 32857266

Therapy

Wu JF, Turak A, Zang D, Zou GA, Aisa HA
J Nat Prod 2022 Nov 25;85(11):2570-2582. Epub 2022 Nov 3 doi: 10.1021/acs.jnatprod.2c00527. PMID: 36326734
Weber KA, Yang W, Carmichael SL, Lupo PJ, Dukhovny S, Yazdy MM, Lin AE, Van Bennekom CM, Mitchell AA, Shaw GM; National Birth Defects Prevention Study
Paediatr Perinat Epidemiol 2018 Nov;32(6):545-555. Epub 2018 Oct 9 doi: 10.1111/ppe.12509. PMID: 30300919
Li RH, Tam WH, Ng PC, Mok TS, Tam B, Lau TK
J Reprod Med 2007 Jun;52(6):575-6. PMID: 17694989

Prognosis

Tibrewal S, Subhedar K, Sen P, Mohan A, Singh S, Shah C, Nischal KK, Ganesh S; Bodhya Eye Consortium
Br J Ophthalmol 2021 Jul;105(7):897-903. Epub 2020 Aug 22 doi: 10.1136/bjophthalmol-2020-316910. PMID: 32829301
Weber KA, Yang W, Carmichael SL, Lupo PJ, Dukhovny S, Yazdy MM, Lin AE, Van Bennekom CM, Mitchell AA, Shaw GM; National Birth Defects Prevention Study
Paediatr Perinat Epidemiol 2018 Nov;32(6):545-555. Epub 2018 Oct 9 doi: 10.1111/ppe.12509. PMID: 30300919
Hakki SS, Kayis SA, Hakki EE, Bozkurt SB, Duruksu G, Unal ZS, Turaç G, Karaoz E
J Periodontol 2015 Feb;86(2):283-91. Epub 2014 Oct 17 doi: 10.1902/jop.2014.140257. PMID: 25325708
Said MB, Chouchène E, Salem SB, Daoud K, Largueche L, Bouassida W, Benzina Z, Ayadi H, Söderkvist P, Matri L, Hmani-Aifa M
Gene 2013 Oct 10;528(2):288-94. Epub 2013 Jun 29 doi: 10.1016/j.gene.2013.06.045. PMID: 23820083
Wavreille O, François Fiquet C, Abdelwahab O, Laumonier E, Wolber A, Guerreschi P, Pellerin P
Br J Oral Maxillofac Surg 2013 Mar;51(2):e17-21. Epub 2012 Mar 30 doi: 10.1016/j.bjoms.2012.02.018. PMID: 22464758

Clinical prediction guides

Alkatan HM, Bedaiwi KM, Al-Faky YH, Maktabi AMY
Sci Rep 2022 Mar 28;12(1):5283. doi: 10.1038/s41598-022-09261-2. PMID: 35347187Free PMC Article
Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, Teär Fahnehjelm K
Ophthalmic Genet 2022 Apr;43(2):172-183. Epub 2022 Feb 2 doi: 10.1080/13816810.2021.1989600. PMID: 35105264
Tibrewal S, Subhedar K, Sen P, Mohan A, Singh S, Shah C, Nischal KK, Ganesh S; Bodhya Eye Consortium
Br J Ophthalmol 2021 Jul;105(7):897-903. Epub 2020 Aug 22 doi: 10.1136/bjophthalmol-2020-316910. PMID: 32829301
Matsushita I, Morita H, Kondo H
Jpn J Ophthalmol 2020 Nov;64(6):635-641. Epub 2020 Aug 28 doi: 10.1007/s10384-020-00766-9. PMID: 32857266
Wavreille O, François Fiquet C, Abdelwahab O, Laumonier E, Wolber A, Guerreschi P, Pellerin P
Br J Oral Maxillofac Surg 2013 Mar;51(2):e17-21. Epub 2012 Mar 30 doi: 10.1016/j.bjoms.2012.02.018. PMID: 22464758

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