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Microcephaly and chorioretinopathy 3(MCCRP3)

MedGen UID:
902924
Concept ID:
C4225362
Disease or Syndrome
Synonym: Microcephaly and chorioretinopathy, autosomal recessive, 3
 
Gene (location): TUBGCP4 (15q15.3)
 
Monarch Initiative: MONDO:0014592
OMIM®: 616335

Definition

Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene. [from MONDO]

Clinical features

From HPO
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
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.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Chorioretinal dysplasia
MedGen UID:
870365
Concept ID:
C4024809
Anatomical Abnormality
Abnormal development of the choroid and retina.

Recent clinical studies

Etiology

Mets MB, Barton LL, Khan AS, Ksiazek TG
Am J Ophthalmol 2000 Aug;130(2):209-15. doi: 10.1016/s0002-9394(00)00570-5. PMID: 11004296

Diagnosis

Rososinski A, Tran T, Galvin J, Patel C, Fung AT
Retin Cases Brief Rep 2019 Winter;13(1):79-83. doi: 10.1097/ICB.0000000000000538. PMID: 28085761
Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Héon E, Roy M, Shalev S, Fernandez CV, MacGillivray C, Wallace K, Fahiminiya S, Majewski J, McMaster CR, Bedard K
JAMA Ophthalmol 2014 Dec;132(12):1393-9. doi: 10.1001/jamaophthalmol.2014.2814. PMID: 25124931
Mets MB, Barton LL, Khan AS, Ksiazek TG
Am J Ophthalmol 2000 Aug;130(2):209-15. doi: 10.1016/s0002-9394(00)00570-5. PMID: 11004296
Wright R, Johnson D, Neumann M, Ksiazek TG, Rollin P, Keech RV, Bonthius DJ, Hitchon P, Grose CF, Bell WE, Bale JF Jr
Pediatrics 1997 Jul;100(1):E9. doi: 10.1542/peds.100.1.e9. PMID: 9200383

Prognosis

Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Héon E, Roy M, Shalev S, Fernandez CV, MacGillivray C, Wallace K, Fahiminiya S, Majewski J, McMaster CR, Bedard K
JAMA Ophthalmol 2014 Dec;132(12):1393-9. doi: 10.1001/jamaophthalmol.2014.2814. PMID: 25124931

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