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Corneal scarring

MedGen UID:
83899
Concept ID:
C0349702
Finding
Synonyms: Corneal Scar; Corneal Scars; Scar, Corneal
SNOMED CT: Corneal scar (95726001)
 
HPO: HP:0000559

Definition

Replacement of corneal tissue with scar tissue as a result of injury to the deeper layers of the cornea. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCorneal scarring

Conditions with this feature

Hereditary insensitivity to pain with anhidrosis
MedGen UID:
6915
Concept ID:
C0020074
Disease or Syndrome
NTRK1 congenital insensitivity to pain with anhidrosis (NTRK1-CIPA) is characterized by insensitivity to pain, anhidrosis (the inability to sweat), and intellectual disability. The ability to sense all pain (including visceral pain) is absent, resulting in repeated injuries including: oral self-mutilation (biting of tongue, lips, and buccal mucosa); biting of fingertips; bruising, scarring, and infection of the skin; multiple bone fractures (many of which fail to heal properly); and recurrent joint dislocations resulting in joint deformity. Sense of touch, vibration, and position are normal. Anhidrosis predisposes to recurrent febrile episodes that are often the initial manifestation of NTRK1-CIPA. Hypothermia in cold environments also occurs. Intellectual disability of varying degree is observed in most affected individuals; hyperactivity and emotional lability are common.
Lowe syndrome
MedGen UID:
18145
Concept ID:
C0028860
Disease or Syndrome
Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including low molecular-weight (LMW) proteinuria, aminoaciduria, bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, hypercalciuria, sodium and potassium wasting, and polyuria. The features of symptomatic Fanconi syndrome do not usually become manifest until after the first few months of life, except for LMW proteinuria. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease between the second and fourth decades of life.
Recessive dystrophic epidermolysis bullosa
MedGen UID:
36311
Concept ID:
C0079474
Disease or Syndrome
Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
MedGen UID:
120536
Concept ID:
C0265336
Disease or Syndrome
Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia characterized by sensorineural hearing loss, photophobia and corneal vascularization, hyperkeratosis of the palms and soles, erythrokeratoderma, follicular hyperkeratosis, and recurrent bacterial and fungal infections. A subset of patients with KID may develop multiple cystic pilar tumors, which are prone to malignant transformation and metastasis (Nyquist et al., 2007). Vohwinkel syndrome (124500) is an allelic disorder involving congenital deafness with keratopachydermia and constrictions of fingers and toes. Another similar disorder caused by mutation in GJB2 is palmoplantar keratoderma with deafness (148350). Genetic Heterogeneity of Keratitis-Ichthyosis-Deafness Syndrome An autosomal recessive form of KID syndrome (KIDAR; 242150) is caused by mutation in the AP1B1 gene (600157) on chromosome 22q12.
Thiel-Behnke corneal dystrophy
MedGen UID:
287070
Concept ID:
C1562894
Disease or Syndrome
Thiel-Behnke corneal dystrophy (CDTB) is characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions (Thiel and Behnke, 1967).
X-linked reticulate pigmentary disorder
MedGen UID:
336844
Concept ID:
C1845050
Disease or Syndrome
X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MedGen UID:
338045
Concept ID:
C1850406
Disease or Syndrome
MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.
XFE progeroid syndrome
MedGen UID:
410064
Concept ID:
C1970416
Disease or Syndrome
An autosomal recessive condition caused by mutation(s) in the ERCC4 gene, encoding DNA repair endonuclease XPF. it is characterized by characterized by cutaneous photosensitivity and progeroid features in multiple organ systems.
Hereditary sensory and autonomic neuropathy type 6
MedGen UID:
761278
Concept ID:
C3539003
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type VI (HSAN6) is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400).
Congenital insensitivity to pain-hypohidrosis syndrome
MedGen UID:
894363
Concept ID:
C4225308
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type VIII (HSAN8) is an autosomal recessive neurologic disorder characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Affected individuals may also have decreased sweating and tear production (summary by Chen et al., 2015). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1A (162400).
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
MedGen UID:
894574
Concept ID:
C4225424
Disease or Syndrome
A rare genetic eye disease with characteristics of optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.
Indifference to pain, congenital, autosomal dominant
MedGen UID:
1613569
Concept ID:
C4538468
Disease or Syndrome
Marsili syndrome (MARSIS) is an autosomal dominant pain insensitivity disorder characterized by a lowered ability to sense pain, to experience temperature, and to sweat. Affected individuals do not perceive broken bones and burns as painful, and have lowered sensitivity to capsaicin. However, visceral pain (e.g., childbirth-related) and light touch are perceived (summary by Habib et al., 2018).
Khan-Khan-Katsanis syndrome
MedGen UID:
1682553
Concept ID:
C5193110
Disease or Syndrome
Khan-Khan-Katsanis syndrome (3KS) is an autosomal recessive neurodevelopmental disorder with variable involvement of the ocular, renal, skeletal, and sometimes cardiac systems. Affected individuals present at birth with multiple congenital anomalies, defects in urogenital and limb morphogenesis, poor overall growth with microcephaly, and global developmental delay (summary by Khan et al., 2019).
Cutaneous porphyria
MedGen UID:
1861084
Concept ID:
C5886774
Disease or Syndrome
Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed areas. Onset in most affected individuals occurs at birth or early infancy. The first manifestation is often pink-to-dark red discoloration of the urine. Hemolytic anemia is common and can range from mild to severe, with some affected individuals requiring chronic blood transfusions. Porphyrin deposition may lead to corneal ulcers and scarring, reddish-brown discoloration of the teeth (erythrodontia), and bone loss and/or expansion of the bone marrow. The phenotypic spectrum, however, is broad and ranges from nonimmune hydrops fetalis in utero to late-onset disease with only mild cutaneous manifestations in adulthood.

Professional guidelines

PubMed

Wilson SE
J Ocul Pharmacol Ther 2023 Apr;39(3):191-206. Epub 2023 Mar 6 doi: 10.1089/jop.2022.0174. PMID: 36877777Free PMC Article
Vadoothker S, Andrews L, Jeng BH, Levin MR
Pediatr Infect Dis J 2018 Sep;37(9):949-951. doi: 10.1097/INF.0000000000002114. PMID: 29794647
Hassan OM, Farooq AV, Soin K, Djalilian AR, Hou JH
Cornea 2017 Aug;36(8):1018-1023. doi: 10.1097/ICO.0000000000001235. PMID: 28582374

Recent clinical studies

Etiology

Ibrahim Al-Mashahedah AM, Kanwar RK, Kanwar JR
Nanomedicine (Lond) 2019 Apr;14(8):1049-1072. Epub 2019 Mar 22 doi: 10.2217/nnm-2017-0305. PMID: 30901304
Porter AJ, Lee GA, Jun AS
Surv Ophthalmol 2018 Jul-Aug;63(4):480-499. Epub 2017 Oct 31 doi: 10.1016/j.survophthal.2017.10.008. PMID: 29097211
Semba RD, Bloem MW
Surv Ophthalmol 2004 Mar-Apr;49(2):243-55. doi: 10.1016/j.survophthal.2003.12.005. PMID: 14998696
Boxer Wachler BS, Christie JP, Chandra NS, Chou B, Korn T, Nepomuceno R
Ophthalmology 2003 May;110(5):1031-40. doi: 10.1016/s0161-6420(03)00094-0. PMID: 12750109
Alexandrakis G, Palma LA, Miller D, Alfonso EC
Ophthalmology 2000 Aug;107(8):1503-6. doi: 10.1016/s0161-6420(00)00227-x. PMID: 10919898

Diagnosis

Porter AJ, Lee GA, Jun AS
Surv Ophthalmol 2018 Jul-Aug;63(4):480-499. Epub 2017 Oct 31 doi: 10.1016/j.survophthal.2017.10.008. PMID: 29097211
Jain R, Sharma N, Basu S, Iyer G, Ueta M, Sotozono C, Kannabiran C, Rathi VM, Gupta N, Kinoshita S, Gomes JA, Chodosh J, Sangwan VS
Surv Ophthalmol 2016 Jul-Aug;61(4):369-99. Epub 2016 Jan 30 doi: 10.1016/j.survophthal.2016.01.004. PMID: 26829569
Zaidman GW
Curr Opin Ophthalmol 2011 Jul;22(4):261-6. doi: 10.1097/ICU.0b013e3283479ffc. PMID: 21597372
Edrington TB, Zadnik K, Barr JT
Optom Clin 1995;4(3):65-73. PMID: 7767020
Sommer A
Aust N Z J Ophthalmol 1988 Feb;16(1):31-5. doi: 10.1111/j.1442-9071.1988.tb01197.x. PMID: 3042000

Therapy

Voulgari N, Mikropoulos D, Kontadakis GA, Safi A, Tabibian D, Kymionis GD
J Refract Surg 2018 Nov 1;34(11):779-782. doi: 10.3928/1081597X-20180921-01. PMID: 30428099
Porter AJ, Lee GA, Jun AS
Surv Ophthalmol 2018 Jul-Aug;63(4):480-499. Epub 2017 Oct 31 doi: 10.1016/j.survophthal.2017.10.008. PMID: 29097211
Chang JH, Garg NK, Lunde E, Han KY, Jain S, Azar DT
Surv Ophthalmol 2012 Sep;57(5):415-29. doi: 10.1016/j.survophthal.2012.01.007. PMID: 22898649Free PMC Article
Alexandrakis G, Palma LA, Miller D, Alfonso EC
Ophthalmology 2000 Aug;107(8):1503-6. doi: 10.1016/s0161-6420(00)00227-x. PMID: 10919898
Sommer A
Aust N Z J Ophthalmol 1988 Feb;16(1):31-5. doi: 10.1111/j.1442-9071.1988.tb01197.x. PMID: 3042000

Prognosis

Shetty R, D'Souza S, Khamar P, Ghosh A, Nuijts RMMA, Sethu S
Asia Pac J Ophthalmol (Phila) 2020 Dec;9(6):533-540. doi: 10.1097/APO.0000000000000332. PMID: 33323707
Bizrah M, Yusuf A, Ahmad S
Eye (Lond) 2019 Sep;33(9):1362-1377. Epub 2019 May 13 doi: 10.1038/s41433-019-0456-5. PMID: 31086244Free PMC Article
Romero-Jiménez M, Santodomingo-Rubido J, Wolffsohn JS
Cont Lens Anterior Eye 2010 Aug;33(4):157-66; quiz 205. doi: 10.1016/j.clae.2010.04.006. PMID: 20537579
Alexandrakis G, Palma LA, Miller D, Alfonso EC
Ophthalmology 2000 Aug;107(8):1503-6. doi: 10.1016/s0161-6420(00)00227-x. PMID: 10919898
Edrington TB, Zadnik K, Barr JT
Optom Clin 1995;4(3):65-73. PMID: 7767020

Clinical prediction guides

Ong HS, Riau AK, Yam GH, Yusoff NZBM, Han EJY, Goh TW, Lai RC, Lim SK, Mehta JS
Int J Mol Sci 2023 Apr 18;24(8) doi: 10.3390/ijms24087456. PMID: 37108619Free PMC Article
Shetty R, D'Souza S, Khamar P, Ghosh A, Nuijts RMMA, Sethu S
Asia Pac J Ophthalmol (Phila) 2020 Dec;9(6):533-540. doi: 10.1097/APO.0000000000000332. PMID: 33323707
Barbosa AP, Alves M, Furtado JMF, Adriano L, Nominato LF, Dias LC, Fantucci MZ, Murashima AAB, Rocha EM
Arq Bras Oftalmol 2020 Sep-Oct;83(5):437-446. doi: 10.5935/0004-2749.20200102. PMID: 33084821
Voulgari N, Mikropoulos D, Kontadakis GA, Safi A, Tabibian D, Kymionis GD
J Refract Surg 2018 Nov 1;34(11):779-782. doi: 10.3928/1081597X-20180921-01. PMID: 30428099
Romero-Jiménez M, Santodomingo-Rubido J, Wolffsohn JS
Cont Lens Anterior Eye 2010 Aug;33(4):157-66; quiz 205. doi: 10.1016/j.clae.2010.04.006. PMID: 20537579

Recent systematic reviews

Hamida Abdelkader SM, Fernández J, Rodríguez-Vallejo M, Sánchez-García A, Piñero DP
Semin Ophthalmol 2021 Apr 3;36(3):67-74. Epub 2021 Feb 22 doi: 10.1080/08820538.2021.1890784. PMID: 33617389
Skarentzos K, Chatzimichael E, Panagiotopoulou EK, Taliantzis S, Konstantinidis A, Labiris G
Acta Medica (Hradec Kralove) 2020;63(4):150-158. doi: 10.14712/18059694.2020.57. PMID: 33355075
Ferdi AC, Nguyen V, Gore DM, Allan BD, Rozema JJ, Watson SL
Ophthalmology 2019 Jul;126(7):935-945. Epub 2019 Mar 8 doi: 10.1016/j.ophtha.2019.02.029. PMID: 30858022
Kwok SS, Shih KC, Bu Y, Lo AC, Chan TC, Lai JS, Jhanji V, Tong L
Eye Contact Lens 2019 Nov;45(6):347-355. doi: 10.1097/ICL.0000000000000584. PMID: 30724841
Bhatt UK, Abdul Karim MN, Prydal JI, Maharajan SV, Fares U
Cochrane Database Syst Rev 2016 Nov 30;11(11):CD007824. doi: 10.1002/14651858.CD007824.pub2. PMID: 27902849Free PMC Article

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