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Brittle cornea syndrome 2(BCS2)

MedGen UID:
481641
Concept ID:
C3280011
Disease or Syndrome
Synonym: BCS2
 
Gene (location): PRDM5 (4q27)
 
Monarch Initiative: MONDO:0013605
OMIM®: 614170

Definition

Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). For a discussion of genetic heterogeneity of brittle cornea syndrome, see BCS1 (229200). [from OMIM]

Clinical features

From HPO
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Recurrent fractures
MedGen UID:
42094
Concept ID:
C0016655
Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Keratoconus
MedGen UID:
44015
Concept ID:
C0022578
Disease or Syndrome
A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Corneal perforation
MedGen UID:
137914
Concept ID:
C0339293
Injury or Poisoning
A rupture of the cornea through which a portion of the iris protrudes.
Cornea plana
MedGen UID:
576329
Concept ID:
C0344529
Congenital Abnormality
Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.
Megalocornea
MedGen UID:
138008
Concept ID:
C0344530
Congenital Abnormality
Megalocornea is an inherited eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as 'anterior megalophthalmos,' since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. X-linked recessive inheritance is the most common pattern, accounting for the male preponderance of the disorder (summary by Skuta et al., 1983). Megalocornea sometimes occurs as part of the Marfan syndrome (154700). Genetic Heterogeneity of Megalocornea Autosomal recessive megalocornea has been reported (249300).
Blue sclerae
MedGen UID:
154236
Concept ID:
C0542514
Finding
An abnormal bluish coloration of the sclera.
Decreased corneal thickness
MedGen UID:
473349
Concept ID:
C1096274
Finding
A decreased anteroposterior thickness of the cornea.
Sclerocornea
MedGen UID:
344000
Concept ID:
C1853235
Disease or Syndrome
A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.
Keratoglobus
MedGen UID:
854390
Concept ID:
C3887531
Anatomical Abnormality
Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Moore P, Wolf A, Sathyamoorthy M
Int J Mol Sci 2024 May 28;25(11) doi: 10.3390/ijms25115848. PMID: 38892036Free PMC Article
Muthusamy K, Tuft S
BMJ Case Rep 2018 Aug 16;2018 doi: 10.1136/bcr-2017-223824. PMID: 30115710Free PMC Article
Lechner J, Porter LF, Rice A, Vitart V, Armstrong DJ, Schorderet DF, Munier FL, Wright AF, Inglehearn CF, Black GC, Simpson DA, Manson F, Willoughby CE
Hum Mol Genet 2014 Oct 15;23(20):5527-35. Epub 2014 Jun 3 doi: 10.1093/hmg/ddu253. PMID: 24895405Free PMC Article
Gripp KW, Demmer LA
Am J Med Genet A 2013 May;161A(5):1132-6. Epub 2013 Mar 13 doi: 10.1002/ajmg.a.35816. PMID: 23494969
Zlotogora J, BenEzra D, Cohen T, Cohen E
Am J Med Genet 1990 Jul;36(3):269-72. doi: 10.1002/ajmg.1320360303. PMID: 2363420

Diagnosis

García de Oteyza G, Fernández Engroba J, Charoenrook V
Cornea 2023 Jul 1;42(7):894-898. Epub 2023 Apr 24 doi: 10.1097/ICO.0000000000003280. PMID: 37098112
Akbari M, Dourandeesh M
J Pediatr Ophthalmol Strabismus 2022 Jul-Aug;59(4):e42-e45. Epub 2022 Jul 1 doi: 10.3928/01913913-20220511-02. PMID: 35856424
Matalia HP, Nandini C, Matalia J
Indian J Ophthalmol 2021 Sep;69(9):2521-2523. doi: 10.4103/ijo.IJO_2542_20. PMID: 34427257Free PMC Article
Uzak AS, Fryns JP, Dundar M
Genet Couns 2014;25(2):159-69. PMID: 25059014
Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B
Am J Med Genet A 2004 Jan 1;124A(1):28-34. doi: 10.1002/ajmg.a.20326. PMID: 14679583

Therapy

Kaufmann C, Schubiger G, Thiel MA
Cornea 2015 Oct;34(10):1326-8. doi: 10.1097/ICO.0000000000000577. PMID: 26266434

Prognosis

Kaufmann C, Schubiger G, Thiel MA
Cornea 2015 Oct;34(10):1326-8. doi: 10.1097/ICO.0000000000000577. PMID: 26266434
Vincent AL, Jordan CA, Cadzow MJ, Merriman TR, McGhee CN
Invest Ophthalmol Vis Sci 2014 Aug 5;55(9):5629-35. doi: 10.1167/iovs.14-14532. PMID: 25097247
Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B
Am J Med Genet A 2004 Jan 1;124A(1):28-34. doi: 10.1002/ajmg.a.20326. PMID: 14679583

Clinical prediction guides

Porter LF, Galli GG, Williamson S, Selley J, Knight D, Elcioglu N, Aydin A, Elcioglu M, Venselaar H, Lund AH, Bonshek R, Black GC, Manson FD
Hum Mol Genet 2015 Dec 1;24(23):6565-79. Epub 2015 Sep 22 doi: 10.1093/hmg/ddv345. PMID: 26395458Free PMC Article
Vincent AL, Jordan CA, Cadzow MJ, Merriman TR, McGhee CN
Invest Ophthalmol Vis Sci 2014 Aug 5;55(9):5629-35. doi: 10.1167/iovs.14-14532. PMID: 25097247
Uzak AS, Fryns JP, Dundar M
Genet Couns 2014;25(2):159-69. PMID: 25059014

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