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Microphthalmia, isolated, with coloboma 5(MCOPCB5)

MedGen UID:
369356
Concept ID:
C1968843
Disease or Syndrome
Synonyms: MCOPCB5; Microphthalmia with Coloboma 5; MICROPHTHALMIA/COLOBOMA 5
 
Gene (location): SHH (7q36.3)
 
Monarch Initiative: MONDO:0012709
OMIM®: 611638

Definition

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene. [from MONDO]

Clinical features

From HPO
Holoprosencephaly sequence
MedGen UID:
38214
Concept ID:
C0079541
Congenital Abnormality
Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish it from other types of holoprosencephaly caused by genetic syndromes, chromosome abnormalities, or substances that cause birth defects (teratogens). The severity of nonsyndromic holoprosencephaly varies widely among affected individuals, even within the same family.\n\nNonsyndromic holoprosencephaly can be grouped into four types according to the degree of brain division. From most to least severe, the types are known as alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). In the most severe forms of nonsyndromic holoprosencephaly, the brain does not divide at all. These affected individuals have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. Most babies with severe nonsyndromic holoprosencephaly die before birth or soon after. In the less severe forms, the brain is partially divided and the eyes are usually set close together (hypotelorism). The life expectancy of these affected individuals varies depending on the severity of symptoms.\n\nPeople with nonsyndromic holoprosencephaly often have a small head (microcephaly), although they can develop a buildup of fluid in the brain (hydrocephalus) that causes increased head size (macrocephaly). Other features may include an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip), one central front tooth instead of two (a single maxillary central incisor), and a flat nasal bridge. The eyeballs may be abnormally small (microphthalmia) or absent (anophthalmia).\n\nSome individuals with nonsyndromic holoprosencephaly have a distinctive pattern of facial features, including a narrowing of the head at the temples, outside corners of the eyes that point upward (upslanting palpebral fissures), large ears, a short nose with upturned nostrils, and a broad and deep space between the nose and mouth (philtrum). In general, the severity of facial features is directly related to the severity of the brain abnormalities. However, individuals with mildly affected facial features can have severe brain abnormalities. Some people do not have apparent structural brain abnormalities but have some of the facial features associated with this condition. These individuals are considered to have a form of the disorder known as microform holoprosencephaly and are typically identified after the birth of a severely affected family member.\n\nMost people with nonsyndromic holoprosencephaly have developmental delay and intellectual disability. Affected individuals also frequently have a malfunctioning pituitary gland, which is a gland located at the base of the brain that produces several hormones. Because pituitary dysfunction leads to the partial or complete absence of these hormones, it can cause a variety of disorders. Most commonly, people with nonsyndromic holoprosencephaly and pituitary dysfunction develop diabetes insipidus, a condition that disrupts the balance between fluid intake and urine excretion. Dysfunction in other parts of the brain can cause seizures, feeding difficulties, and problems regulating body temperature, heart rate, and breathing. The sense of smell may be diminished (hyposmia) or completely absent (anosmia) if the part of the brain that processes smells is underdeveloped or missing.
Orofacial cleft
MedGen UID:
472000
Concept ID:
C3266076
Congenital Abnormality
The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
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.
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.
Chorioretinal coloboma
MedGen UID:
66820
Concept ID:
C0240896
Congenital Abnormality
Absence of a region of the retina, retinal pigment epithelium, and choroid.
Bilateral microphthalmos
MedGen UID:
334420
Concept ID:
C1843496
Congenital Abnormality
A developmental anomaly characterized by abnormal smallness of both eyes.
Abnormality of vision
MedGen UID:
871352
Concept ID:
C4025846
Finding
Abnormality of eyesight (visual perception).

Professional guidelines

PubMed

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
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
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
Källén B, Tornqvist K
Eur J Epidemiol 2005;20(4):345-50. doi: 10.1007/s10654-004-6880-1. PMID: 15971507

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
Reis LM, Basel D, McCarrier J, Weinberg DV, Semina EV
Clin Genet 2020 Nov;98(5):486-492. Epub 2020 Aug 17 doi: 10.1111/cge.13824. PMID: 32729136Free PMC Article
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
Huynh N, Blain D, Glaser T, Doss EL, Zein WM, Lang DM, Baker EH, Hill S, Brewer CC, Kopp JB, Bardakjian TM, Maumenee IH, Bateman BJ, Brooks BP
Am J Ophthalmol 2013 Dec;156(6):1159-1168.e4. Epub 2013 Sep 5 doi: 10.1016/j.ajo.2013.06.037. PMID: 24012100Free PMC Article
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

Therapy

Källén B, Tornqvist K
Eur J Epidemiol 2005;20(4):345-50. doi: 10.1007/s10654-004-6880-1. PMID: 15971507

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
Hittner HM, Desmond MM, Montgomery JR
Am J Ophthalmol 1976 May;81(5):661-5. doi: 10.1016/0002-9394(76)90134-3. PMID: 179325

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
Huynh N, Blain D, Glaser T, Doss EL, Zein WM, Lang DM, Baker EH, Hill S, Brewer CC, Kopp JB, Bardakjian TM, Maumenee IH, Bateman BJ, Brooks BP
Am J Ophthalmol 2013 Dec;156(6):1159-1168.e4. Epub 2013 Sep 5 doi: 10.1016/j.ajo.2013.06.037. PMID: 24012100Free PMC Article
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 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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