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Isolated microphthalmia 5(MCOP5)

MedGen UID:
410021
Concept ID:
C1970236
Disease or Syndrome
Synonym: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): MFRP (11q23.3)
 
Monarch Initiative: MONDO:0012605
OMIM®: 611040
Orphanet: ORPHA251279

Definition

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma. [from ORDO]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Cystoid macular edema
MedGen UID:
7435
Concept ID:
C0024440
Disease or Syndrome
Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al., 2015).
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.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Optic disc drusen
MedGen UID:
14495
Concept ID:
C0029128
Disease or Syndrome
Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Retinal pigment epithelial atrophy
MedGen UID:
333564
Concept ID:
C1840457
Finding
Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.
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.
Foveoschisis
MedGen UID:
436160
Concept ID:
C2674407
Finding
Splitting of the retinal layers in the macula.
Abnormal light- and dark-adapted electroretinogram
MedGen UID:
462461
Concept ID:
C3151111
Finding
An abnormality of the combined rod-and-cone response on electroretinogram.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated microphthalmia 5
Follow this link to review classifications for Isolated microphthalmia 5 in Orphanet.

Professional guidelines

PubMed

Maillet C, Guilbaud L, Monier I, Khoshnood B, Quoc EB, Dugas A, Lelong N, Jouannic JM
BJOG 2024 Sep;131(10):1385-1391. Epub 2024 Mar 25 doi: 10.1111/1471-0528.17817. PMID: 38528322
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

Recent clinical studies

Etiology

Maillet C, Guilbaud L, Monier I, Khoshnood B, Quoc EB, Dugas A, Lelong N, Jouannic JM
BJOG 2024 Sep;131(10):1385-1391. Epub 2024 Mar 25 doi: 10.1111/1471-0528.17817. PMID: 38528322
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
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

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
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
Ergun SG, Akay GG, Ergun MA, Perçin EF
Eur J Med Genet 2017 Mar;60(3):200-204. Epub 2017 Jan 19 doi: 10.1016/j.ejmg.2017.01.007. PMID: 28111184

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
Lee H, Cha HJ
Cell Mol Biol (Noisy-le-grand) 2018 Apr 30;64(5):80-84. PMID: 29729698
Park HJ, Cho JH, Hong SH, Kim DH, Jung HY, Kang IK, Cho YJ
J Nat Med 2018 Jan;72(1):127-135. Epub 2017 Sep 7 doi: 10.1007/s11418-017-1120-7. PMID: 28884442
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
Källén B, Tornqvist K
Eur J Epidemiol 2005;20(4):345-50. doi: 10.1007/s10654-004-6880-1. PMID: 15971507

Prognosis

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
Khalil A, Karroum SB, Barake R, Dunya G, Abou-Rizk S, Kamar A, Nemer G, Bassim M
BMC Med Genet 2020 Jan 2;21(1):1. doi: 10.1186/s12881-019-0942-4. PMID: 31898538Free PMC Article
Mory A, Ruiz FX, Dagan E, Yakovtseva EA, Kurolap A, Parés X, Farrés J, Gershoni-Baruch R
Eur J Hum Genet 2014 Mar;22(3):419-22. Epub 2013 Jul 24 doi: 10.1038/ejhg.2013.157. PMID: 23881059Free PMC Article
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

Clinical prediction guides

Mahmoud A, Pomar L, Lambert V, Picone O, Hcini N
Ocul Immunol Inflamm 2024 Nov;32(9):2217-2227. Epub 2024 Feb 13 doi: 10.1080/09273948.2024.2314086. PMID: 38350011
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
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
Ergun SG, Akay GG, Ergun MA, Perçin EF
Eur J Med Genet 2017 Mar;60(3):200-204. Epub 2017 Jan 19 doi: 10.1016/j.ejmg.2017.01.007. PMID: 28111184

Recent systematic reviews

Mahmoud A, Pomar L, Lambert V, Picone O, Hcini N
Ocul Immunol Inflamm 2024 Nov;32(9):2217-2227. Epub 2024 Feb 13 doi: 10.1080/09273948.2024.2314086. PMID: 38350011

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