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Epiphora

MedGen UID:
57518
Concept ID:
C0152227
Disease or Syndrome; Finding
Synonym: Epiphoras
SNOMED CT: Excessive tear production (418035005); Crocodile tears (418035005); Tearing (193982009); Epiphora (193982009)
 
HPO: HP:0009926
Monarch Initiative: MONDO:0001793

Definition

Abnormally increased lacrimation, that is, excessive tearing (watering eye). [from HPO]

Conditions with this feature

Keratosis pilaris atrophicans
MedGen UID:
75520
Concept ID:
C0263428
Disease or Syndrome
Keratosis pilaris atrophicans (KPA) represents a group of rare genodermatoses characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. Keratosis pilaris of extensor surfaces of limbs is a common associated finding. Affected individuals may present with features that overlap between 3 subtypes, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD), and atrophoderma vermiculata (AVA; see 209700) (summary by Klar et al., 2015).
Dyskeratosis congenita, X-linked
MedGen UID:
216941
Concept ID:
C1148551
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Hereditary mucoepithelial dysplasia
MedGen UID:
220887
Concept ID:
C1274795
Congenital Abnormality
Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant genodermatosis characterized by onset in infancy of a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Patients develop cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses (Witkop et al., 1982). Although 1 family was reported to have progressive severe interstitial lung disease (Witkop et al., 1979), this feature has not been reported in other families and is not considered a criterion for diagnosis. However, the clinical triad of nonscarring alopecia, well-demarcated fiery red mucosa, and psoriasiform perineal involvement has been consistently observed (review by Boralevi et al., 2005).
Familial congenital nasolacrimal duct obstruction
MedGen UID:
332018
Concept ID:
C1835612
Finding
Congenital nasolacrimal drainage system impatency is relatively common, occurring in approximately 20% of children within the first year of life. Such infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway such as conjunctivitis. The most frequent site of such obstruction occurs at the distal intranasal segment of the nasolacrimal drainage system at the valve of Hasner (summary by Wang and Cunningham, 2011). Congenital dacryocystocele, an uncommon variant of nasolacrimal duct obstruction, characterized by the appearance of a cystic blue mass over the area of the lacrimal duct soon after birth. Dacryocystoceles are thought to result from a persistent membrane at the valve of Hasner and a functional obstruction of the common canaliculus or valve of Rosenmuller. The resulting lacrimal sac distention has been reported to be more common in female and non-Hispanic white patients, and familial cases have been described only sporadically. Common presenting signs include dacryocystitis, facial cellulitis, and respiratory distress; the development of astigmatism in association with dacryocystocele has only rarely been observed (summary by Shekunov et al., 2010).
Keratitis fugax hereditaria
MedGen UID:
372107
Concept ID:
C1835697
Disease or Syndrome
Keratoendotheliitis fugax hereditaria (KEFH) is an autosomal dominant corneal disease that periodically and fleetingly affects the corneal endothelium, stroma, and vision, eventually resulting in central corneal stromal opacities in some patients. The disease is characterized by episodes of unilateral ocular pain, pericorneal injection, and photophobia. The acute symptoms vanish in 1 to 2 days, but vision remains blurry for several weeks. Onset occurs between ages 3 and 12 years, and may involve either eye. Episodes generally decrease in frequency and become more mild with age (summary by Turunen et al., 2018).
Hyperostosis cranialis interna
MedGen UID:
327093
Concept ID:
C1840404
Disease or Syndrome
Hyperostosis cranialis interna is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval et al., 2010).
Cone-rod dystrophy 10
MedGen UID:
337598
Concept ID:
C1846529
Disease or Syndrome
Cone-rod dystrophy-10 (CORD10) is characterized by progressive loss of visual acuity and color vision, followed by night blindness and loss of peripheral vision. Patients may experience photophobia and epiphora in bright light (Abid et al., 2006). Mutation in SEMA4A can also cause a form of retinitis pigmentosa (RP35; 610282). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970.
Epithelial recurrent erosion dystrophy
MedGen UID:
342263
Concept ID:
C1852551
Disease or Syndrome
Epithelial recurrent erosion dystrophy (ERED) is characterized by frequent painful recurrent corneal erosions, with onset in the first decade of life and subsequent gradual decrease in frequency, with cessation in the third or fourth decade. Small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity, in the Bowman layer and immediately subjacent anterior stroma, varying from 0.2 to 1.5 mm in diameter, appear to be clinically diagnostic of ERED (Oliver et al., 2016).
Posterior polymorphous corneal dystrophy 1
MedGen UID:
343836
Concept ID:
C1852555
Disease or Syndrome
A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.
Cone-rod dystrophy 8
MedGen UID:
381360
Concept ID:
C1854180
Disease or Syndrome
A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.
Dyskeratosis congenita, autosomal recessive 1
MedGen UID:
341705
Concept ID:
C1857144
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Nasopalpebral lipoma-coloboma syndrome
MedGen UID:
358378
Concept ID:
C1868660
Disease or Syndrome
Nasopalpebral lipoma-coloboma syndrome (NPLCS) is an autosomal dominant condition characterized by upper eyelid and nasopalpebral lipomas, colobomas of upper and lower eyelids, telecanthus, and maxillary hypoplasia (summary by Suresh et al., 2011).
Sarcoidosis, susceptibility to, 1
MedGen UID:
394568
Concept ID:
C2697310
Finding
Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.
Dyskeratosis congenita, autosomal dominant 3
MedGen UID:
462795
Concept ID:
C3151445
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Dyskeratosis congenita, autosomal recessive 6
MedGen UID:
905452
Concept ID:
C4225356
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
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).
Corneal dystrophy, Meesmann, 1
MedGen UID:
1684668
Concept ID:
C5231499
Disease or Syndrome
Dyskeratosis congenita, digenic
MedGen UID:
1823990
Concept ID:
C5774217
Disease or Syndrome
Digenic dyskeratosis congenita (DKCD) is characterized clinically by a combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia. Some patients may have evidence of bone marrow failure, manifest as immune defects such as recurrent infections or hypogammaglobulinemia. Telomeres are shortened in patient cells. Individuals with DKCD may show severe adverse reactions to treatment with 5-FU (Tummala et al., 2022). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).

Professional guidelines

PubMed

Lee H, Cha E, Baek S
J Craniofac Surg 2022 Jun 1;33(4):e374-e376. Epub 2021 Sep 21 doi: 10.1097/SCS.0000000000008160. PMID: 36041092
Cnaan RB, Abumanhal M, Wengier A, Feldman I, Leibovitch I, Abergel A
Eur Arch Otorhinolaryngol 2022 Jan;279(1):199-203. Epub 2021 Mar 27 doi: 10.1007/s00405-021-06773-x. PMID: 33772319
Mansur C, Pfeiffer ML, Esmaeli B
Ophthalmic Plast Reconstr Surg 2017 Jan/Feb;33(1):9-12. doi: 10.1097/IOP.0000000000000745. PMID: 27429222

Recent clinical studies

Etiology

Stein M, Bethmann D, Viestenz A, Wickenhauser C, Struck HG, Heichel J
Klin Monbl Augenheilkd 2023 Jan;240(1):44-52. Epub 2023 Jan 27 doi: 10.1055/a-1975-0190. PMID: 36706767
Lee JM, Baek JS
Korean J Ophthalmol 2021 Oct;35(5):349-354. Epub 2021 Jul 8 doi: 10.3341/kjo.2021.0069. PMID: 34237206Free PMC Article
Mansur C, Pfeiffer ML, Esmaeli B
Ophthalmic Plast Reconstr Surg 2017 Jan/Feb;33(1):9-12. doi: 10.1097/IOP.0000000000000745. PMID: 27429222
Cook N, Mushtaq F, Leitner C, Ilchyshyn A, Smith GT, Cree IA
BMC Ophthalmol 2016 Jul 29;16:130. doi: 10.1186/s12886-016-0294-1. PMID: 27473439Free PMC Article
Zaldívar RA, Bradley EA
Ophthalmic Plast Reconstr Surg 2009 Nov-Dec;25(6):481-4. doi: 10.1097/IOP.0b013e3181b8c185. PMID: 19935254

Diagnosis

Tsimchi IM, Malik AI, Takashima M, Lee AG
Ophthalmic Plast Reconstr Surg 2022 Mar-Apr 01;38(2):e51-e54. doi: 10.1097/IOP.0000000000002095. PMID: 35030150
Lee JM, Baek JS
Korean J Ophthalmol 2021 Oct;35(5):349-354. Epub 2021 Jul 8 doi: 10.3341/kjo.2021.0069. PMID: 34237206Free PMC Article
Krishna Y, Coupland SE
Asia Pac J Ophthalmol (Phila) 2017 Mar-Apr;6(2):173-178. doi: 10.22608/APO.201713. PMID: 28399337
Cook N, Mushtaq F, Leitner C, Ilchyshyn A, Smith GT, Cree IA
BMC Ophthalmol 2016 Jul 29;16:130. doi: 10.1186/s12886-016-0294-1. PMID: 27473439Free PMC Article
Zaldívar RA, Bradley EA
Ophthalmic Plast Reconstr Surg 2009 Nov-Dec;25(6):481-4. doi: 10.1097/IOP.0b013e3181b8c185. PMID: 19935254

Therapy

Jeffers J, Lucarelli K, Akella S, Setabutr P, Wojno TH, Aakalu V
Orbit 2022 Apr;41(2):150-161. Epub 2021 Aug 15 doi: 10.1080/01676830.2021.1966810. PMID: 34396904Free PMC Article
Mansur C, Pfeiffer ML, Esmaeli B
Ophthalmic Plast Reconstr Surg 2017 Jan/Feb;33(1):9-12. doi: 10.1097/IOP.0000000000000745. PMID: 27429222
Cook N, Mushtaq F, Leitner C, Ilchyshyn A, Smith GT, Cree IA
BMC Ophthalmol 2016 Jul 29;16:130. doi: 10.1186/s12886-016-0294-1. PMID: 27473439Free PMC Article
Lelli GJ Jr, Lisman RD
Plast Reconstr Surg 2010 Mar;125(3):1007-17. doi: 10.1097/PRS.0b013e3181ce17e8. PMID: 20195127
Kintzel PE, Michaud LB, Lange MK
Pharmacotherapy 2006 Jun;26(6):853-67. doi: 10.1592/phco.26.6.853. PMID: 16716138

Prognosis

Singh S, Ali MJ
Orbit 2021 Jun;40(3):179-192. Epub 2020 Jun 8 doi: 10.1080/01676830.2020.1769684. PMID: 32506982
Krishna Y, Coupland SE
Asia Pac J Ophthalmol (Phila) 2017 Mar-Apr;6(2):173-178. doi: 10.22608/APO.201713. PMID: 28399337
Mishra K, Hu KY, Kamal S, Andron A, Della Rocca RC, Ali MJ, Nair AG
Ophthalmic Plast Reconstr Surg 2017 Mar/Apr;33(2):83-89. doi: 10.1097/IOP.0000000000000769. PMID: 27533513
Zaldívar RA, Bradley EA
Ophthalmic Plast Reconstr Surg 2009 Nov-Dec;25(6):481-4. doi: 10.1097/IOP.0b013e3181b8c185. PMID: 19935254
Araujo Filho BC, Voegels RL, Butugan O, Pinheiro Neto CD, Lessa MM
Braz J Otorhinolaryngol 2005 Nov-Dec;71(6):721-5. doi: 10.1016/s1808-8694(15)31238-6. PMID: 16878238Free PMC Article

Clinical prediction guides

Sodhi M, Yeung SN, Maberley D, Mikelberg F, Etminan M
JAMA Ophthalmol 2022 Sep 1;140(9):880-884. doi: 10.1001/jamaophthalmol.2022.3026. PMID: 35951320Free PMC Article
Maroto Rodríguez B, Stoica BTL, Toledano Fernández N, Genol Saavedra I
Arch Soc Esp Oftalmol (Engl Ed) 2022 Oct;97(10):549-557. Epub 2022 Jul 22 doi: 10.1016/j.oftale.2022.06.011. PMID: 35879178
Schulz CB, Malhotra R
Eur J Ophthalmol 2022 Jul;32(4):2108-2115. Epub 2022 May 29 doi: 10.1177/11206721221104550. PMID: 35635181
Morax S, Touitou V
Orbit 2006 Dec;25(4):303-18. doi: 10.1080/01676830600985841. PMID: 17182405
Tos M, Balle V, Andersen R
Ann Otol Rhinol Laryngol 1986 Jul-Aug;95(4 Pt 1):352-5. doi: 10.1177/000348948609500406. PMID: 3740708

Recent systematic reviews

Chiu SJ, Currie ZI, Tan JH
BMJ Open Ophthalmol 2022 Aug;7(1) doi: 10.1136/bmjophth-2022-000985. PMID: 36161857Free PMC Article
Schulz CB, Kennedy A, Rogers S
Ophthalmic Plast Reconstr Surg 2018 May/Jun;34(3):193-200. doi: 10.1097/IOP.0000000000000977. PMID: 29737972
Ervin AM, Law A, Pucker AD
Cochrane Database Syst Rev 2017 Jun 26;6(6):CD006775. doi: 10.1002/14651858.CD006775.pub3. PMID: 28649802Free PMC Article
Hwang K, Yeom SH, Hwang SH
J Craniofac Surg 2017 May;28(3):803-805. doi: 10.1097/SCS.0000000000003482. PMID: 28468171
Green R, Gohil R, Ross P
Clin Otolaryngol 2017 Jun;42(3):514-520. Epub 2016 Oct 13 doi: 10.1111/coa.12754. PMID: 27662629

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