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Recurrent corneal erosions

MedGen UID:
56353
Concept ID:
C0155119
Disease or Syndrome
Synonyms: Recurrent corneal ulceration; Recurrent corneal ulcerations
SNOMED CT: Recurrent erosion syndrome (2055003); Recurrent corneal erosion (2055003); Recurrent erosion of cornea (2055003)
 
HPO: HP:0000495

Definition

The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRecurrent corneal erosions

Conditions with this feature

Familial dysautonomia
MedGen UID:
41678
Concept ID:
C0013364
Disease or Syndrome
Familial dysautonomia, which affects the development and survival of sensory, sympathetic, and parasympathetic neurons, is a debilitating disorder present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, autonomic crises (i.e., hypertensive vomiting attacks), recurrent pneumonia, altered pain sensitivity, altered temperature perception, and blood pressure instability. Hypotonia contributes to delay in acquisition of motor milestones. Optic neuropathy results in progressive vision loss. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Developmental delay / intellectual disability occur in about 21% of individuals. Life expectancy is decreased.
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.
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.
Distichiasis-lymphedema syndrome
MedGen UID:
75566
Concept ID:
C0265345
Disease or Syndrome
Lymphedema-distichiasis syndrome (referred to as LDS in this GeneReview) is characterized by lower-limb lymphedema, and distichiasis (aberrant eyelashes ranging from a full set of extra eyelashes to a single hair). Lymphedema typically appears in late childhood or puberty, is confined to the lower limbs with or without involvement of the external genitalia, and is often asymmetric; severity varies within families. Males develop edema at an earlier age and have more problems with cellulitis than females. Distichiasis, which may be present at birth, is observed in 94% of affected individuals. About 75% of affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia; other common findings include varicose veins and ptosis.
Cloverleaf skull syndrome
MedGen UID:
98141
Concept ID:
C0432126
Disease or Syndrome
Cloverleaf skull, or Kleeblattschaedel, consists of a trilobular skull with craniosynostosis. The condition shows pathogenetic variability and etiologic heterogeneity. The cause of isolated cloverleaf skull is unknown (Cohen, 2009). Cohen (1975) pointed out that Kleeblattschaedel is a component of many syndromes, e.g., it is found in some cases of Crouzon syndrome (123500), Pfeiffer syndrome (101600), and Carpenter syndrome (201000). Cohen (2009) listed 12 monogenic disorders with cloverleaf skull as a feature, including type II thanatophoric dysplasia (187601), which accounts for 40% of all cloverleaf skull syndromes. Cohen (2009) published photographs of cloverleaf skull in various syndromes.
Epithelial basement membrane dystrophy
MedGen UID:
99275
Concept ID:
C0521723
Disease or Syndrome
Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy characterized mainly by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. Slit lamp examination may reveal dots, maps, grayish epithelial fingerprint lines, blebs, nets, or any combination of these patterns. Histologic analysis shows abnormal redundant basement membrane and intraepithelial lacunae filled with cellular debris. Most patients are asymptomatic before the age of 30 years; some may have recurrent erosions, the frequency of which declines with age, and a loss of vision due to surface irregularity (summary by Boutboul et al., 2006).
Macular corneal dystrophy
MedGen UID:
351514
Concept ID:
C1636149
Disease or Syndrome
Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into 2 subtypes, type I and type II, defined by the respective absence and presence of sulfated keratan sulfate in the patient serum, although both types have clinically indistinguishable phenotypes (summary by Akama et al., 2000).
Lattice corneal dystrophy Type I
MedGen UID:
305533
Concept ID:
C1690006
Disease or Syndrome
Lattice corneal dystrophy type I (CDL1) is an autosomal dominant condition characterized by deposition of amyloid in the corneal stroma. Onset occurs in the first or second decade of life and progresses over time. The anterior stroma has rod-like or linear opacities. Recurrent erosions are common and central anterior stromal haze may develop with age. The lesions usually affect the anterior and central corneas, leaving a relatively normal periphery (summary by Lin 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.
Nephropathic cystinosis
MedGen UID:
419735
Concept ID:
C2931187
Disease or Syndrome
Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.
Corneal dystrophy, Meesmann, 2
MedGen UID:
1684798
Concept ID:
C5231495
Disease or Syndrome
Meesmann corneal dystrophy-2 (MECD2) is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts. Although the disease is generally mild and affected individuals are often asymptomatic, some suffer from recurrent erosions leading to lacrimation, photophobia, and deterioration in visual acuity (summary by Szaflik et al., 2008). For a discussion of genetic heterogeneity of Meesmann corneal dystrophy, see MECD1 (122100).
IFAP syndrome 1, with or without BRESHECK syndrome
MedGen UID:
1746744
Concept ID:
C5399971
Disease or Syndrome
The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by Naiki et al., 2012). Genetic Heterogeneity of IFAP Syndrome IFAP syndrome-2 (IFAP2; 619016) is caused by heterozygous mutation in the SREBF1 gene (184756) on chromosome 17p11.
LADD syndrome 1
MedGen UID:
1824096
Concept ID:
C5774323
Disease or Syndrome
Lacrimoauriculodentodigital syndrome-1 (LADD1) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). Genetic Heterogeneity of Lacrimoauriculodentodigital Syndrome LADD syndrome-2 (LADD2; 620192) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16, and LADD syndrome-3 (LADD3; 620193) is caused by mutation in the FGF10 gene, an FGFR ligand, on chromosome 5p12.

Professional guidelines

PubMed

Omari AA, Mian SI
Klin Monbl Augenheilkd 2018 Jun;235(6):689-696. Epub 2018 Jun 12 doi: 10.1055/a-0592-7925. PMID: 29895082
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Ewald M, Hammersmith KM
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Recent clinical studies

Etiology

Zhang R, Wang Q, Li J, Sun L, Jhanji V, Jiang J, Zhang M
Indian J Ophthalmol 2022 Apr;70(4):1186-1189. doi: 10.4103/ijo.IJO_2340_21. PMID: 35326011Free PMC Article
Farooq AV, Colby K
Klin Monbl Augenheilkd 2020 Feb;237(2):175-179. Epub 2019 Feb 8 doi: 10.1055/a-0735-9801. PMID: 30736080
Watson SL, Leung V
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Oliver VF, van Bysterveldt KA, Cadzow M, Steger B, Romano V, Markie D, Hewitt AW, Mackey DA, Willoughby CE, Sherwin T, Crosier PS, McGhee CN, Vincent AL
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Watson SL, Lee MH, Barker NH
Cochrane Database Syst Rev 2012 Sep 12;(9):CD001861. doi: 10.1002/14651858.CD001861.pub3. PMID: 22972054

Diagnosis

Kruse F, Keidel LF, Priglinger S, Luft N, Priglinger C
Klin Monbl Augenheilkd 2023 Mar;240(3):260-265. Epub 2023 Jan 25 doi: 10.1055/a-2020-0926. PMID: 36696914
Nagpal R, Maharana PK, Roop P, Murthy SI, Rapuano CJ, Titiyal JS, Vajpayee RB, Sharma N
Surv Ophthalmol 2020 Jan-Feb;65(1):79-108. Epub 2019 Jul 12 doi: 10.1016/j.survophthal.2019.07.002. PMID: 31306672
Omari AA, Mian SI
Klin Monbl Augenheilkd 2018 Jun;235(6):689-696. Epub 2018 Jun 12 doi: 10.1055/a-0592-7925. PMID: 29895082
Wilson SE, Marino GK, Medeiros CS, Santhiago MR
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Therapy

Nagpal R, Maharana PK, Roop P, Murthy SI, Rapuano CJ, Titiyal JS, Vajpayee RB, Sharma N
Surv Ophthalmol 2020 Jan-Feb;65(1):79-108. Epub 2019 Jul 12 doi: 10.1016/j.survophthal.2019.07.002. PMID: 31306672
Watson SL, Leung V
Cochrane Database Syst Rev 2018 Jul 9;7(7):CD001861. doi: 10.1002/14651858.CD001861.pub4. PMID: 29985545Free PMC Article
Wilson SE, Marino GK, Medeiros CS, Santhiago MR
J Refract Surg 2017 Mar 1;33(3):203-210. doi: 10.3928/1081597X-20161123-01. PMID: 28264136
Watson SL, Lee MH, Barker NH
Cochrane Database Syst Rev 2012 Sep 12;(9):CD001861. doi: 10.1002/14651858.CD001861.pub3. PMID: 22972054
Findley HM
J Am Optom Assoc 1986 May;57(5):392-6. PMID: 3486894

Prognosis

Chen S, Chu X, Zhang C, Jia Z, Yang L, Yang R, Huang Y, Zhao S
Ophthalmic Res 2023;66(1):1114-1127. Epub 2023 Jul 25 doi: 10.1159/000533160. PMID: 37490883Free PMC Article
Zhang R, Wang Q, Li J, Sun L, Jhanji V, Jiang J, Zhang M
Indian J Ophthalmol 2022 Apr;70(4):1186-1189. doi: 10.4103/ijo.IJO_2340_21. PMID: 35326011Free PMC Article
Deshmukh R, Reddy JC, Rapuano CJ, Vaddavalli PK
Indian J Ophthalmol 2020 Dec;68(12):2856-2866. doi: 10.4103/ijo.IJO_1524_20. PMID: 33229661Free PMC Article
Nicklason E, Mack H, Beltz J, Jacob J, Farahani M, Colville D, Savige J
Ophthalmic Genet 2020 Feb;41(1):13-19. Epub 2020 Mar 11 doi: 10.1080/13816810.2019.1709126. PMID: 32159412
Nagpal R, Maharana PK, Roop P, Murthy SI, Rapuano CJ, Titiyal JS, Vajpayee RB, Sharma N
Surv Ophthalmol 2020 Jan-Feb;65(1):79-108. Epub 2019 Jul 12 doi: 10.1016/j.survophthal.2019.07.002. PMID: 31306672

Clinical prediction guides

Lee HK, Lee C, Kim MK
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Recent systematic reviews

Chen S, Chu X, Zhang C, Jia Z, Yang L, Yang R, Huang Y, Zhao S
Ophthalmic Res 2023;66(1):1114-1127. Epub 2023 Jul 25 doi: 10.1159/000533160. PMID: 37490883Free PMC Article
Watson SL, Leung V
Cochrane Database Syst Rev 2018 Jul 9;7(7):CD001861. doi: 10.1002/14651858.CD001861.pub4. PMID: 29985545Free PMC Article
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Watson SL, Lee MH, Barker NH
Cochrane Database Syst Rev 2012 Sep 12;(9):CD001861. doi: 10.1002/14651858.CD001861.pub3. PMID: 22972054
Watson SL, Barker NH
Cochrane Database Syst Rev 2007 Oct 17;(4):CD001861. doi: 10.1002/14651858.CD001861.pub2. PMID: 17943758

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