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Cornea plana

MedGen UID:
576329
Concept ID:
C0344529
Congenital Abnormality
Synonym: Flat cornea
SNOMED CT: Cornea plana (204145006); Cornea flattened (204145006)
 
HPO: HP:0007720
Monarch Initiative: MONDO:0000733
OMIM® Phenotypic series: PS121400

Definition

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. [from HPO]

Conditions with this feature

Cornea plana 1, autosomal dominant
MedGen UID:
343837
Concept ID:
C1852557
Disease or Syndrome
Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA1, an autosomal dominant form of the disorder, is mild (summary by Tahvanainen et al., 1996). Genetic Heterogeneity of Cornea Plana Also see CNA2 (217300), an autosomal recessive form of the disorder, which is severe and frequently associated with additional ocular manifestations.
Cornea plana 2
MedGen UID:
346616
Concept ID:
C1857574
Disease or Syndrome
Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations (summary by Tahvanainen et al., 1996). For discussion of genetic heterogeneity of CNA, see CNA1 (121400).
Colobomatous macrophthalmia-microcornea syndrome
MedGen UID:
400728
Concept ID:
C1865286
Disease or Syndrome
A rare genetic eye disease with characteristics of microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement or variable extent of coloboma among other features.
Brittle cornea syndrome 2
MedGen UID:
481641
Concept ID:
C3280011
Disease or Syndrome
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).
Loeys-Dietz syndrome 4
MedGen UID:
766676
Concept ID:
C3553762
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Visual impairment and progressive phthisis bulbi
MedGen UID:
1648430
Concept ID:
C4748978
Disease or Syndrome
Visual impairment and progressive phthisis bulbi is characterized by poor vision at birth, with development of bilateral phthisis by adulthood (Ansar et al., 2018).

Professional guidelines

PubMed

Nischal KK
Cornea 2015 Oct;34 Suppl 10:S24-34. doi: 10.1097/ICO.0000000000000552. PMID: 26352876

Recent clinical studies

Etiology

Maghsoudi D, Nixon TRW, Snead MP
Am J Med Genet A 2023 Mar;191(3):846-849. Epub 2022 Dec 18 doi: 10.1002/ajmg.a.63077. PMID: 36529632
Zhang BN, Chan TCY, Tam POS, Liu Y, Pang CP, Jhanji V, Chen LJ, Chu WK
Dis Markers 2019;2019:8781524. Epub 2019 Nov 12 doi: 10.1155/2019/8781524. PMID: 31781308Free PMC Article
Iglesias AI, Mishra A, Vitart V, Bykhovskaya Y, Höhn R, Springelkamp H, Cuellar-Partida G, Gharahkhani P, Bailey JNC, Willoughby CE, Li X, Yazar S, Nag A, Khawaja AP, Polašek O, Siscovick D, Mitchell P, Tham YC, Haines JL, Kearns LS, Hayward C, Shi Y, van Leeuwen EM, Taylor KD; Blue Mountains Eye Study—GWAS group, Bonnemaijer P, Rotter JI, Martin NG, Zeller T, Mills RA, Souzeau E, Staffieri SE, Jonas JB, Schmidtmann I, Boutin T, Kang JH, Lucas SEM, Wong TY, Beutel ME, Wilson JF; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2 (WTCCC2), Uitterlinden AG, Vithana EN, Foster PJ, Hysi PG, Hewitt AW, Khor CC, Pasquale LR, Montgomery GW, Klaver CCW, Aung T, Pfeiffer N, Mackey DA, Hammond CJ, Cheng CY, Craig JE, Rabinowitz YS, Wiggs JL, Burdon KP, van Duijn CM, MacGregor S
Nat Commun 2018 May 14;9(1):1864. doi: 10.1038/s41467-018-03646-6. PMID: 29760442Free PMC Article
Al Hazimi A, Khan AO
Ophthalmic Genet 2015 Jun;36(2):123-5. Epub 2013 Dec 4 doi: 10.3109/13816810.2013.851249. PMID: 24303778
Khan AO, Aldahmesh M, Meyer B
Ophthalmology 2006 Oct;113(10):1773-8. doi: 10.1016/j.ophtha.2006.04.026. PMID: 17011957

Diagnosis

Maghsoudi D, Nixon TRW, Snead MP
Am J Med Genet A 2023 Mar;191(3):846-849. Epub 2022 Dec 18 doi: 10.1002/ajmg.a.63077. PMID: 36529632
Nischal KK
Cornea 2015 Oct;34 Suppl 10:S24-34. doi: 10.1097/ICO.0000000000000552. PMID: 26352876
Khan AO
Curr Opin Ophthalmol 2013 Sep;24(5):369-78. doi: 10.1097/ICU.0b013e3283638374. PMID: 23846189
Vesaluoma MH, Sankila EM, Gallar J, Müller LJ, Petroll WM, Moilanen JA, Forsius H, Tervo TM
Invest Ophthalmol Vis Sci 2000 Jul;41(8):2120-6. PMID: 10892853
Perry LD, Edwards WC, Bramson RT
J Pediatr Ophthalmol Strabismus 1978 Jul-Aug;15(4):226-30. doi: 10.3928/0191-3913-19780701-09. PMID: 105122

Therapy

Kumar P, Senthil S
J Glaucoma 2019 Aug;28(8):e136-e139. doi: 10.1097/IJG.0000000000001283. PMID: 31135590
Viestenz A, Bischoff-Jung M, Langenbucher A, Eppig T, Seitz B
Cornea 2016 Jun;35(6):843-6. doi: 10.1097/ICO.0000000000000816. PMID: 27032022

Prognosis

Zhang BN, Chan TCY, Tam POS, Liu Y, Pang CP, Jhanji V, Chen LJ, Chu WK
Dis Markers 2019;2019:8781524. Epub 2019 Nov 12 doi: 10.1155/2019/8781524. PMID: 31781308Free PMC Article
Huang C, Long X, Peng C, Lin P, Tan H, Lv W, Wu L
Mol Med Rep 2019 Jun;19(6):4711-4718. Epub 2019 Apr 11 doi: 10.3892/mmr.2019.10153. PMID: 31059048Free PMC Article
Ebenezer ND, Patel CB, Hariprasad SM, Chen LL, Patel RJ, Hardcastle AJ, Allen RC
Arch Ophthalmol 2005 Sep;123(9):1248-53. doi: 10.1001/archopht.123.9.1248. PMID: 16157807
Lehmann OJ, El-ashry MF, Ebenezer ND, Ocaka L, Francis PJ, Wilkie SE, Patel RJ, Ficker L, Jordan T, Khaw PT, Bhattacharya SS
Invest Ophthalmol Vis Sci 2001 Dec;42(13):3118-22. PMID: 11726611
Forsius H, Damsten M, Eriksson AW, Fellman J, Lindh S, Tahvanainen E
Acta Ophthalmol Scand 1998 Apr;76(2):196-203. doi: 10.1034/j.1600-0420.1998.760215.x. PMID: 9591953

Clinical prediction guides

Zhang BN, Chan TCY, Tam POS, Liu Y, Pang CP, Jhanji V, Chen LJ, Chu WK
Dis Markers 2019;2019:8781524. Epub 2019 Nov 12 doi: 10.1155/2019/8781524. PMID: 31781308Free PMC Article
Aldave AJ, Sonmez B, Bourla N, Schultz G, Papp JC, Salem AK, Rayner SA, Yellore VS
Ophthalmic Genet 2007 Jun;28(2):57-67. doi: 10.1080/13816810701351321. PMID: 17558846
Ebenezer ND, Patel CB, Hariprasad SM, Chen LL, Patel RJ, Hardcastle AJ, Allen RC
Arch Ophthalmol 2005 Sep;123(9):1248-53. doi: 10.1001/archopht.123.9.1248. PMID: 16157807
Kao WW, Liu CY
Glycoconj J 2002 May-Jun;19(4-5):275-85. doi: 10.1023/A:1025396316169. PMID: 12975606
Vesaluoma MH, Sankila EM, Gallar J, Müller LJ, Petroll WM, Moilanen JA, Forsius H, Tervo TM
Invest Ophthalmol Vis Sci 2000 Jul;41(8):2120-6. PMID: 10892853

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