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Isolated microphthalmia 8(MCOP8)

MedGen UID:
767438
Concept ID:
C3554524
Disease or Syndrome
Synonyms: MCOP8; MICROPHTHALMIA, ISOLATED 8
 
Gene (location): ALDH1A3 (15q26.3)
 
Monarch Initiative: MONDO:0014050
OMIM®: 615113

Definition

Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene. [from MONDO]

Clinical features

From HPO
Entropion
MedGen UID:
41813
Concept ID:
C0014390
Disease or Syndrome
An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.
Short palpebral fissure
MedGen UID:
98067
Concept ID:
C0423112
Finding
Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
Anophthalmia
MedGen UID:
314
Concept ID:
C0003119
Congenital Abnormality
Absence of the globe or eyeball.
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 detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Optic nerve hypoplasia
MedGen UID:
137901
Concept ID:
C0338502
Disease or Syndrome
Underdevelopment of the optic nerve.
True anophthalmia
MedGen UID:
436469
Concept ID:
C2675590
Finding
Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination.
Retinal coloboma
MedGen UID:
761889
Concept ID:
C3540764
Disease or Syndrome
A notch or cleft of the retina.
Hypoplastic optic chiasm
MedGen UID:
767486
Concept ID:
C3554572
Finding
Developmental defect characterized by undergrowth of the optic chiasm.

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
Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M
Acta Ophthalmol 2020 Dec;98(8):848-858. Epub 2020 May 21 doi: 10.1111/aos.14427. PMID: 32436650
Scott WE, Drummond GT, Keech RV, Karr DJ
Aust N Z J Ophthalmol 1989 May;17(2):143-52. doi: 10.1111/j.1442-9071.1989.tb00504.x. PMID: 2757829

Recent clinical studies

Etiology

Piryaei F, Pakmanesh R, Salehirad M, Akbari S, Edizadeh M, Khodadadi H
Eur J Med Genet 2023 Aug;66(8):104801. Epub 2023 Jun 18 doi: 10.1016/j.ejmg.2023.104801. PMID: 37339696
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
Shinar S, Blaser S, Chitayat D, Selvanathan T, Chau V, Shannon P, Agrawal S, Ryan G, Pruthi V, Miller SP, Krishnan P, Van Mieghem T
Ultrasound Obstet Gynecol 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018. PMID: 32196785Free PMC Article
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
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

Diagnosis

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
Egloff C, Tassin M, Bault JP, Barjol A, Collin A, Simon I, Sibiude J, Mandelbrot L, Picone O
J Gynecol Obstet Hum Reprod 2020 Sep;49(7):101746. Epub 2020 May 11 doi: 10.1016/j.jogoh.2020.101746. PMID: 32438134
Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M
Acta Ophthalmol 2020 Dec;98(8):848-858. Epub 2020 May 21 doi: 10.1111/aos.14427. PMID: 32436650
Shinar S, Blaser S, Chitayat D, Selvanathan T, Chau V, Shannon P, Agrawal S, Ryan G, Pruthi V, Miller SP, Krishnan P, Van Mieghem T
Ultrasound Obstet Gynecol 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018. PMID: 32196785Free PMC Article
Happ H, Schilter KF, Weh E, Reis LM, Semina EV
Am J Med Genet A 2016 Sep;170(9):2471-5. Epub 2016 Jul 5 doi: 10.1002/ajmg.a.37840. PMID: 27378168Free PMC Article

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
Wang W, Zhang Y, Nakashima S, Nakamura S, Wang T, Yoshikawa M, Matsuda H
J Nat Med 2019 Jun;73(3):439-449. Epub 2019 Mar 7 doi: 10.1007/s11418-018-01276-2. PMID: 30847755Free PMC Article
Yun CY, Mi Ko S, Pyo Choi Y, Kim BJ, Lee J, Mun Kim J, Kim JY, Song JY, Kim SH, Hwang BY, Tae Hong J, Han SB, Kim Y
Theranostics 2018;8(7):2031-2043. Epub 2018 Feb 16 doi: 10.7150/thno.24385. PMID: 29556371Free PMC Article
Hwang JM, Kuo HC, Lin CT, Kao ES
Pharm Biol 2013 Aug;51(8):941-7. Epub 2013 Apr 9 doi: 10.3109/13880209.2013.771376. PMID: 23570521
Spagnolo A, Bianchi F, Calabro A, Calzolari E, Clementi M, Mastroiacovo P, Meli P, Petrelli G, Tenconi R
Reprod Toxicol 1994 Sep-Oct;8(5):397-403. doi: 10.1016/0890-6238(94)90079-5. PMID: 7841658

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
Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M
Acta Ophthalmol 2020 Dec;98(8):848-858. Epub 2020 May 21 doi: 10.1111/aos.14427. PMID: 32436650
Shinar S, Blaser S, Chitayat D, Selvanathan T, Chau V, Shannon P, Agrawal S, Ryan G, Pruthi V, Miller SP, Krishnan P, Van Mieghem T
Ultrasound Obstet Gynecol 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018. PMID: 32196785Free PMC Article
Vidya NG, Rajkumar S, Vasavada AR
Ophthalmic Genet 2018 Jun;39(3):344-352. Epub 2018 Feb 20 doi: 10.1080/13816810.2018.1436184. PMID: 29461140
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

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
Shinar S, Blaser S, Chitayat D, Selvanathan T, Chau V, Shannon P, Agrawal S, Ryan G, Pruthi V, Miller SP, Krishnan P, Van Mieghem T
Ultrasound Obstet Gynecol 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018. PMID: 32196785Free PMC Article
Happ H, Schilter KF, Weh E, Reis LM, Semina EV
Am J Med Genet A 2016 Sep;170(9):2471-5. Epub 2016 Jul 5 doi: 10.1002/ajmg.a.37840. PMID: 27378168Free PMC Article
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
Rigual NR, Cheney RT, Iwenofu OH, Li Q, Loree TR, Popat SR, Merzianu M
Laryngoscope 2007 Aug;117(8):1354-8. doi: 10.1097/mlg.0b013e31806146e5. PMID: 17592396

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