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Cornea plana 1
Other names	Autosomal Dominant Cornea Plana, CNA1.
Cornea plana 1 is inherited in an autosomal dominant manner.
Specialty	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. This could result in the early development of arcus lipoides, hazy corneal limbus, and hyperopia. Cornea plana 1 is an autosomal dominant disorder.

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. 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.

Moreover, high hyperopia, strabismus, microcornea, posterior embryotoxon, iridocorneal adhesions, iris lumps, iris wasting, and pupillary abnormalities can all be present. Instead of hyperopia, myopia has been identified in a few cases. As many as 90 percent of cases have a bilateral presentation, which is linked to sclerocornea. Finally, congenital ptosis has also been reported, and the absence of corneal protrusion is most likely the cause.

Diagnosis

Clinical presentation, keratometry, pachymetry, and endothelial imaging are used to make the diagnosis.

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.

Histology is distinguished by acanthosis, keratinization of the corneal epithelium, Bowman's membrane defects, and stromal vascularization and scar formation.

See also

• Cornea plana 2
• Keratoglobus

References

1. ^ Sutton, Gerard; Lawless, Michael A; Rogers, Christopher M (1995). "Cornea plana". Australian and New Zealand Journal of Ophthalmology. 23 (1). Wiley: 74–75. doi:10.1111/j.1442-9071.1995.tb01651.x. ISSN 0814-9763. PMID 7619462.
2. ^ Tahvanainen, E; Forsius, H; Kolehmainen, J; Damsten, M; Fellman, J; de la Chapelle, A (February 1, 1996). "The genetics of cornea plana congenita". Journal of Medical Genetics. 33 (2). BMJ: 116–119. doi:10.1136/jmg.33.2.116. ISSN 1468-6244. PMC 1051836. PMID 8929947.
3. ^ Forsius, Henrik; Damsten, Margareta; Eriksson, Aldur W.; Fellman, Johan; Lindh, Sinikka; Tahvanainen, Esa (1998). "Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland". Acta Ophthalmologica Scandinavica. 76 (2). Wiley: 196–203. doi:10.1034/j.1600-0420.1998.760215.x. ISSN 1395-3907. PMID 9591953.
4. Aldave, Anthony J.; Sonmez, Baris; Bourla, Nirit; Schultz, Gerald; Papp, Jeanette C.; Salem, Andrew K.; Rayner, Sylvia A.; Yellore, Vivek S. (2007). "Autosomal Dominant Cornea Plana is not Associated with Pathogenic Mutations inDCN, DSPG3, FOXC1, KERA, LUM,orPITX2". Ophthalmic Genetics. 28 (2). Informa UK Limited: 57–67. doi:10.1080/13816810701351321. ISSN 1381-6810. PMID 17558846. S2CID 23491990.
5. ^ Fogla, Rajesh; Indumathy, Thazethaeveetil R. (2020). "Customized toric intraocular lens implantation in cornea plana". Journal of Cataract and Refractive Surgery. 46 (12). Ovid Technologies (Wolters Kluwer Health): e11–e14. doi:10.1097/j.jcrs.0000000000000350. ISSN 0886-3350. PMID 32818351. S2CID 221221090.
6. Ramappa, Muralidhar; Achanta, Divya Sree Ramya; Mohamed, Ashik; Chaurasia, Sunita (August 18, 2020). "Corneal endothelial alterations in Recessive Cornea Plana: a report of 4 patients and review of literature". Ophthalmic Genetics. 41 (6). Informa UK Limited: 659–662. doi:10.1080/13816810.2020.1804944. ISSN 1381-6810. PMID 32811257. S2CID 221181241.
7. Sigler-Villanueva, Aldo; Tahvanainen, Esa; Lindh, Sinikka; Dieguez-Lucena, Jose; Forsius, Henrik (1997). "Autosomal dominant cornea plana: Clinical findings in a Cuban family and a review of the literature". Ophthalmic Genetics. 18 (2). Informa UK Limited: 55–61. doi:10.3109/13816819709057116. ISSN 1381-6810. PMID 9228241.

Further reading

• Khan, Arif O. (2012). "Cornea Plana". Genetic Diseases of the Eye. Oxford University Press. pp. 85–91. doi:10.1093/med/9780195326147.003.0006. ISBN 978-0-19-532614-7.
• Coleman, Michael (2018). "Cornea Plana". Encyclopedia of Ophthalmology. Berlin, Heidelberg: Springer Berlin Heidelberg. pp. 513–514. doi:10.1007/978-3-540-69000-9_779. ISBN 978-3-540-68292-9.

External links

• The University of Arizona
• EyeWiki

• Eye diseases
• Autosomal dominant disorders
• Congenital disorders of eyes