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Autosomal dominant keratitis

MedGen UID:
332039
Concept ID:
C1835698
Disease or Syndrome
Synonyms: Dominantly inherited keratitis; Keratitis, hereditary
SNOMED CT: Autosomal dominant keratitis (715339004); Hereditary keratitis (715339004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): PAX6 (11p13)
 
Monarch Initiative: MONDO:0007848
OMIM®: 148190
Orphanet: ORPHA2334

Definition

Keratitis is a rare ocular disorder presenting with congenital and progressive features predominantly involving the anterior segment of the eye. The major clinical symptoms are anterior stromal corneal opacification and vascularization of the peripheral cornea. Progression of the opacification and vascularization into the central cornea may occur with corresponding reduction in visual acuity. Other anterior segment features include variable radial defects of the iris stroma and foveal hypoplasia (summary by Mirzayans et al., 1995). [from OMIM]

Clinical features

From HPO
Keratitis
MedGen UID:
44013
Concept ID:
C0022568
Disease or Syndrome
Inflammation of the cornea.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.

Professional guidelines

PubMed

Chang MS, Jun I, Kim EK
Korean J Ophthalmol 2023 Aug;37(4):340-347. Epub 2023 Jun 19 doi: 10.3341/kjo.2023.0032. PMID: 37336511Free PMC Article
Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. PMID: 21540632

Recent clinical studies

Etiology

Lee HJ, Colby KA
Semin Ophthalmol 2013 Sep-Nov;28(5-6):306-12. doi: 10.3109/08820538.2013.825293. PMID: 24138039

Diagnosis

Turunen JA, Wedenoja J, Repo P, Järvinen RS, Jäntti JE, Mörtenhumer S, Riikonen AS, Lehesjoki AE, Majander A, Kivelä TT
Am J Ophthalmol 2018 Apr;188:41-50. Epub 2018 Jan 31 doi: 10.1016/j.ajo.2018.01.017. PMID: 29366613

Prognosis

Singh S, Tang HK, Lee JY, Saunders GF
J Biol Chem 1998 Aug 21;273(34):21531-41. doi: 10.1074/jbc.273.34.21531. PMID: 9705283
Mirzayans F, Pearce WG, MacDonald IM, Walter MA
Am J Hum Genet 1995 Sep;57(3):539-48. PMID: 7668281Free PMC Article

Clinical prediction guides

Turunen JA, Wedenoja J, Repo P, Järvinen RS, Jäntti JE, Mörtenhumer S, Riikonen AS, Lehesjoki AE, Majander A, Kivelä TT
Am J Ophthalmol 2018 Apr;188:41-50. Epub 2018 Jan 31 doi: 10.1016/j.ajo.2018.01.017. PMID: 29366613
Singh S, Tang HK, Lee JY, Saunders GF
J Biol Chem 1998 Aug 21;273(34):21531-41. doi: 10.1074/jbc.273.34.21531. PMID: 9705283
Mirzayans F, Pearce WG, MacDonald IM, Walter MA
Am J Hum Genet 1995 Sep;57(3):539-48. PMID: 7668281Free PMC Article

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