Cornea plana 1 explained
| Cornea plana 1 |
| Synonyms: | Autosomal Dominant Cornea Plana, CNA1. |
| Field: | Ophthalmology |
Cornea plana 1 (CNA1) is a congenital disorder that causes the cornea to flatten and the angle between the sclera and cornea to shrink.[1] This could result in the early development of arcus lipoides, hazy corneal limbus, and hyperopia.[2] Cornea plana 1 is an autosomal dominant disorder.[3]
Signs and symptoms
Cornea plana commonly presents as a flat cornea, early-onset arcus lipoides, low anterior chamber depth, and an indistinct border between the sclera and cornea due to a decreased angle between the two.[2] Although a small corneal diameter is anticipated, measuring it can be challenging because the scleral tissue overlaps the cornea by a few millimeters. In the patients who have been described, the anterior chamber depth has been found to vary from 0.8 to 2.1 mm.[3]
Moreover, high hyperopia, strabismus, microcornea, posterior embryotoxon, iridocorneal adhesions, iris lumps, iris wasting, and pupillary abnormalities can all be present.[4] Instead of hyperopia, myopia has been identified in a few cases.[5] As many as 90 percent of cases have a bilateral presentation, which is linked to sclerocornea.[1] Finally, congenital ptosis has also been reported, and the absence of corneal protrusion is most likely the cause.[3]
Diagnosis
Clinical presentation, keratometry,[5] pachymetry, and endothelial imaging are used to make the diagnosis.[6]
Since the decreased refraction in the autosomal recessive form is more severe than in the autosomal dominant form, corneal refraction measurements can be used to differentiate between CNA1 and CNA2.[3]
Histology is distinguished by acanthosis, keratinization of the corneal epithelium, Bowman's membrane defects, and stromal vascularization and scar formation.[7]
See also
Further reading
- Book: Khan, Arif O. . Genetic Diseases of the Eye . Cornea Plana . Oxford University Press . 2012 . 85–91 . 10.1093/med/9780195326147.003.0006 . 978-0-19-532614-7 . none.
- Book: Coleman, Michael . Encyclopedia of Ophthalmology . Cornea Plana . Springer Berlin Heidelberg . Berlin, Heidelberg . 2018 . 513–514 . 978-3-540-68292-9 . 10.1007/978-3-540-69000-9_779 . none.
External links
Notes and References
- Sutton . Gerard . Lawless . Michael A . Rogers . Christopher M . Cornea plana . Australian and New Zealand Journal of Ophthalmology . Wiley . 23 . 1 . 1995 . 0814-9763 . 10.1111/j.1442-9071.1995.tb01651.x . 74–75. 7619462 .
- Tahvanainen . E . Forsius . H . Kolehmainen . J . Damsten . M . Fellman . J . de la Chapelle . A . The genetics of cornea plana congenita. . Journal of Medical Genetics . BMJ . 33 . 2 . February 1, 1996 . 1468-6244 . 10.1136/jmg.33.2.116 . 116–119. 8929947 . 1051836 .
- Forsius . Henrik . Damsten . Margareta . Eriksson . Aldur W. . Fellman . Johan . Lindh . Sinikka . Tahvanainen . Esa . Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland . Acta Ophthalmologica Scandinavica . Wiley . 76 . 2 . 1998 . 1395-3907 . 10.1034/j.1600-0420.1998.760215.x . 196–203. 9591953 .
- Aldave . Anthony J. . Sonmez . Baris . Bourla . Nirit . Schultz . Gerald . Papp . Jeanette C. . Salem . Andrew K. . Rayner . Sylvia A. . Yellore . Vivek S. . Autosomal Dominant Cornea Plana is not Associated with Pathogenic Mutations inDCN, DSPG3, FOXC1, KERA, LUM,orPITX2 . Ophthalmic Genetics . Informa UK Limited . 28 . 2 . 2007 . 1381-6810 . 10.1080/13816810701351321 . 57–67. 17558846 . 23491990 .
- Fogla . Rajesh . Indumathy . Thazethaeveetil R. . Customized toric intraocular lens implantation in cornea plana . Journal of Cataract and Refractive Surgery . Ovid Technologies (Wolters Kluwer Health) . 46 . 12 . 2020 . 0886-3350 . 10.1097/j.jcrs.0000000000000350 . e11–e14. 32818351 . 221221090 .
- Ramappa . Muralidhar . Achanta . Divya Sree Ramya . Mohamed . Ashik . Chaurasia . Sunita . Corneal endothelial alterations in Recessive Cornea Plana: a report of 4 patients and review of literature . Ophthalmic Genetics . Informa UK Limited . 41 . 6 . August 18, 2020 . 1381-6810 . 10.1080/13816810.2020.1804944 . 659–662. 32811257 . 221181241 .
- Sigler-Villanueva . Aldo . Tahvanainen . Esa . Lindh . Sinikka . Dieguez-Lucena . Jose . Forsius . Henrik . Autosomal dominant cornea plana: Clinical findings in a Cuban family and a review of the literature . Ophthalmic Genetics . Informa UK Limited . 18 . 2 . 1997 . 1381-6810 . 10.3109/13816819709057116 . 55–61. 9228241 .
