CASE PRESENTATION: In this report, we present clinical data from a Turkish family with autosomal recessive cornea plana. In some of the affected individuals, hypotrichosis was found. KERA was screened for mutations using Sanger sequencing. [research.regionh.dk]

We report a case of a 7-yeas old boy with Cornea plana who presented with heavy amblyiopia due to high refractive error. [slideshare.net]

Patients can present with decreased visual acuity and can be associated with abdominal hernias and Alport Syndrome[18]. [eyewiki.aao.org]

• Aniridia

  Ocular • Axenfeld–Rieger anomaly • Aniridia • Peters anomaly • Congenital ectropion uveae 2. [entokey.com]

  Indications for surgery were aniridia and failed grafts in 69%, infectious keratitis in 19%, chemical burn in 7%, and autoimmune disease in 5% of patients. [nature.com]

  Intermediate-term and long-term outcomes with the Boston type 1 keratoprosthesis in aniridia. Cornea. 2018;37(1):11–14. doi:10.1097/ICO.0000000000001412 45. Salvador-Culla B, Kolovou PE, Arzeno L, Martinez S, Lopez MA. [dovepress.com]

  Morning glory disc anomaly 120430 Aniridia 106210 Cataract with late-onset corneal dystrohpy 106210 Coloboma of optic nerve 120430 Coloboma ocular 120200 Foveal hypoplasia 1 136520 Gillespie syndrome 206700 Keratitis 148190 Optic nerve hypoplasia 165550 [panelapp.genomicsengland.co.uk]

• Arcus Senilis

  Interestingly, one homozygous individual (No 4) demonstrates corneal findings compatible with both superior PMD (corneal thinning with astigmatism) and autosomal recessive cornea plana (small corneas, arcus senilis)—the presence of arcus senilis excludes [bjo.bmj.com]

  Slit-lamp examination OU revealed microcornea, cornea plana, central corneal opacity, widened limbal zone, early-onset arcus senilis and clear lens in OD and hard mature cataract with an anterior polar component in OS [Figure 1]a, [Figure 1]b, [Figure [ijoreports.in]

  Arcus senilis occurs early. There are round, grey areas about 5mm broad in the central region of the cornea, which is thick in the middle and thinner towards the edges. [fdna.health]

• Ectopia Lentis

  Ocular • Vernal disease • Blue sclera • Prominent corneal nerves • Aniridia • Ectopia lentis • Retinitis pigmentosa • Leber congenital amaurosis 2. [entokey.com]

  lentis and with or without secondary glaucoma 251750 Tags Green Green List (high evidence) MAF 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cataract [panelapp.genomicsengland.co.uk]

  lentis, microphakia, spherophakia, cataract), and the trabecular meshwork [1]. [mdpi.com]

• Corneal Edema

  Forceps-induced obstetric trauma, with resultant Descemet membrane tears and corneal edema and clouding, is a cause of corneal clouding; it is almost always unilateral. [emedicine.medscape.com]

  Although certain previous studies have documented an atypical phenotype, including superior pellucid corneal marginal degeneration, hypotrichosis and corneal edema (2,9,11,21), they retain a classically identifiable phenotype of CNA2. [spandidos-publications.com]

• Blepharoptosis

  Blepharoptosis, bilateral epibulbar dermoids, microphthalmia, epibulbar tumors, and retinal abnormalities have been documented in individuals with Goldenhar-Gorlin syndrome, also known as oculoauriculovertebral (OAV) dysplasia. [emedicine.medscape.com]

Cornea plana is a genetically determined condition that can be accompanied by a range of complications and have virtually no possible treatment. [slideshare.net]

Cataract formation AEs were reported in 4 study eyes (10.5%); 1 of which was deemed related to treatment. [ajmc.com]

This study adds to the current literature on the treatment of vitreoretinal complications post-KPro and suggests that PPV through the Boston KPro is a reasonable treatment option. [nature.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Refractory corneal epithelial diseases due to zinc deficiency:clinical features and treatment in patients with severe motor and intellectual disabilities. Biomedical Research on Trace Elements. 2020;31:1-5. [ Links ] [scielo.org.mx]

Diagnosis and Prognosis: An eye doctor can often diagnose this condition by simple inspection but confirmation is usually obtained by measurement of corneal curvature by a technique known as keratometry. [disorders.eyes.arizona.edu]

Prognosis Cornea plana can be associated with hyperopia and astigmatism and if this isn’t managed with prescription glasses in childhood, it can lead to ametropic amblyopia[12]. [eyewiki.aao.org]

Etiology Cornea plana is an inherited disease which can be autosomal dominant (AD) or autosomal recessive (AR) (Gupta and Kim 2011). [link.springer.com]

Lastly, congenital ptosis has been described as well with likely etiology being lack of corneal protrusion[4]. [eyewiki.aao.org]

Abstract PDF Permissions Buy Epidemiology of Meibomian Gland Dysfunction in an Elderly Population Alghamdi, Yousef A.; Mercado, Carolina; McClellan, Allison L.; More Cornea. 35(6):731-735, June 2016. [journals.lww.com]

Epidemiology Cornea plana is a rare condition. Families with CNA1 (dominant inheritance) have been studied in Denmark, Germany, USA, the Netherlands[3], and Cuba[6]. CNA2 (recessive inheritance) has been identified in Finnish and Saudi peoples. [eyewiki.aao.org]

Abstract PDF Permissions Buy Fuchs Endothelial Corneal Dystrophy: A Systematic Immunofluorescence Study of Collagen Type VIII Suggests Heterogeneous Pathophysiology Nielsen, Esben; Nielsen, Kim; Ivarsen, Anders; More Cornea. 35(6):872-877, June 2016. [journals.lww.com]

Pathophysiology A KERA gene mutation on chromosome 12 has been found to lead to autosomal recessive cornea plana. Multiple types of missense and nonsense mutations have been described, resulting in similar phenotypes. [eyewiki.aao.org]

In addition, the scarcity of donor corneas in many regions of the world prevents traditional keratoplasty to have a significant impact on corneal blindness where the prevalence is the highest. [dovepress.com]

Prevention of diabetic keratopathy. Br J Ophthalmol. 2005;89:254-5. [ Links ] 16. Cisarik-Fredenburg P. Discoveries in research on diabetic keratopathy. Optometry. 2001;72:691-704. [ Links ] 17. Zhivov A, Winter K, Hovakimyan M. [scielo.org.mx]

This shortens operative time, decreases the complexity of the surgery, and prevents further complications. Of note, the Boston KPro tolerates fluid–gas exchange well without excessive fogging. [nature.com]