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Rare isolated myopia

MedGen UID:
1648398
•Concept ID:
C4751232
•
Disease or Syndrome
SNOMED CT: Rare isolated myopia (773771008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
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.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Orphanet: ORPHA98619

Definition

A rare genetic refraction anomaly disorder with characteristics of non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Rare isolated myopia

Recent clinical studies

Etiology

Central Toxic Keratopathy in Siblings After Laser-Assisted Keratomileusis: Case Report and Literature Review.
Yim CK, Zhu D
Cornea 2022 May 1;41(5):640-643. doi: 10.1097/ICO.0000000000002890. PMID: 35383619
Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.
Levinger N, Hendler K, Banin E, Hanany M, Kimchi A, Mechoulam H, Meiner V, Parag Y, Sharon D, Macarov M, Yahalom C
Eur J Ophthalmol 2021 Nov;31(6):3349-3354. Epub 2020 Nov 25 doi: 10.1177/1120672120977343. PMID: 33238767
Contact lens-related corneal infection in Australia.
Stapleton F
Clin Exp Optom 2020 Jul;103(4):408-417. Epub 2020 May 4 doi: 10.1111/cxo.13082. PMID: 32363626
Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate.
Matovinovic E, Kho PF, Lea RA, Benton MC, Eccles DA, Haupt LM, Hewitt AW, Sherwin JC, Mackey DA, Griffiths LR
Mol Vis 2017;23:660-665. Epub 2017 Sep 28 PMID: 28966548Free PMC Article
Genetic isolates in ophthalmic diseases.
Sherwin JC, Hewitt AW, Ruddle JB, Mackey DA
Ophthalmic Genet 2008 Dec;29(4):149-61. doi: 10.1080/13816810802334341. PMID: 19005985

Diagnosis

Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.
Jiang Y, Ouyang J, Li S, Xiao X, Sun W, Zhang Q
Mol Vis 2021;27:50-60. Epub 2021 Jan 20 PMID: 33633439Free PMC Article
Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.
Levinger N, Hendler K, Banin E, Hanany M, Kimchi A, Mechoulam H, Meiner V, Parag Y, Sharon D, Macarov M, Yahalom C
Eur J Ophthalmol 2021 Nov;31(6):3349-3354. Epub 2020 Nov 25 doi: 10.1177/1120672120977343. PMID: 33238767
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
Hull S, Arno G, Ku CA, Ge Z, Waseem N, Chandra A, Webster AR, Robson AG, Michaelides M, Weleber RG, Davagnanam I, Chen R, Holder GE, Pennesi ME, Moore AT
JAMA Ophthalmol 2016 Jul 1;134(7):753-62. doi: 10.1001/jamaophthalmol.2016.1073. PMID: 27259167
Topiramate maculopathy.
Gualtieri W, Janula J
Int Ophthalmol 2013 Feb;33(1):103-6. Epub 2012 Sep 28 doi: 10.1007/s10792-012-9640-3. PMID: 23015022
Magnesium metabolism in childhood.
Geven WB, Monnens LA, Willems JL
Miner Electrolyte Metab 1993;19(4-5):308-13. PMID: 8264518

Therapy

Central Toxic Keratopathy in Siblings After Laser-Assisted Keratomileusis: Case Report and Literature Review.
Yim CK, Zhu D
Cornea 2022 May 1;41(5):640-643. doi: 10.1097/ICO.0000000000002890. PMID: 35383619
Contact lens-related corneal infection in Australia.
Stapleton F
Clin Exp Optom 2020 Jul;103(4):408-417. Epub 2020 May 4 doi: 10.1111/cxo.13082. PMID: 32363626
Central toxic keratopathy after laser in situ keratomileusis.
Jutley G, Aiello F, Robaei D, Maurino V
J Cataract Refract Surg 2014 Dec;40(12):1985-93. Epub 2014 Nov 24 doi: 10.1016/j.jcrs.2014.03.030. PMID: 25465684
Topiramate maculopathy.
Gualtieri W, Janula J
Int Ophthalmol 2013 Feb;33(1):103-6. Epub 2012 Sep 28 doi: 10.1007/s10792-012-9640-3. PMID: 23015022
Bilateral Fusarium oxysporum keratitis after laser in situ keratomileusis.
Labiris G, Troeber L, Gatzioufas Z, Stavridis E, Seitz B
J Cataract Refract Surg 2012 Nov;38(11):2040-4. doi: 10.1016/j.jcrs.2012.08.037. PMID: 23079318

Prognosis

Central Toxic Keratopathy in Siblings After Laser-Assisted Keratomileusis: Case Report and Literature Review.
Yim CK, Zhu D
Cornea 2022 May 1;41(5):640-643. doi: 10.1097/ICO.0000000000002890. PMID: 35383619
Neurosarcoidosis presenting as CRVO combined CRAO: a biopsy-proven case report of a Chinese patient.
Feng C, Chen Q, Liu W, Bi Y, Qian J, Wang M, Sun X, Tian G
BMC Ophthalmol 2020 Aug 27;20(1):348. doi: 10.1186/s12886-020-01624-5. PMID: 32854651Free PMC Article
Contact lens-related corneal infection in Australia.
Stapleton F
Clin Exp Optom 2020 Jul;103(4):408-417. Epub 2020 May 4 doi: 10.1111/cxo.13082. PMID: 32363626
Mutational analysis of MIR184 in sporadic keratoconus and myopia.
Lechner J, Bae HA, Guduric-Fuchs J, Rice A, Govindarajan G, Siddiqui S, Abi Farraj L, Yip SP, Yap M, Das M, Souzeau E, Coster D, Mills RA, Lindsay R, Phillips T, Mitchell P, Ali M, Inglehearn CF, Sundaresan P, Craig JE, Simpson DA, Burdon KP, Willoughby CE
Invest Ophthalmol Vis Sci 2013 Aug 5;54(8):5266-72. doi: 10.1167/iovs.13-12035. PMID: 23833072
Infectious keratitis after photorefractive keratectomy in the United States army and navy.
Wroblewski KJ, Pasternak JF, Bower KS, Schallhorn SC, Hubickey WJ, Harrison CE, Torres MF, Barnes SD
Ophthalmology 2006 Apr;113(4):520-5. Epub 2006 Feb 17 doi: 10.1016/j.ophtha.2005.09.038. PMID: 16488012

Clinical prediction guides

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Čopíková J, Paděrová J, Románková V, Havlovicová M, Balaščáková M, Zelinová M, Vejvalková Š, Simandlová M, Štěpánková J, Hořínová V, Kantorová E, Křečková G, Pospíšilová J, Boday A, Meszarosová AU, Turnovec M, Votýpka P, Lišková P, Kremlíková Pourová R
Ann Hum Genet 2020 Sep;84(5):380-392. Epub 2020 May 19 doi: 10.1111/ahg.12386. PMID: 32427345
Oculofacial alterations in NBAS-SOPH like mutations: Case report.
Nucci F, Lembo A, Farronato M, Farronato G, Nucci P, Serafino M
Eur J Ophthalmol 2020 Mar;30(2):NP12-NP15. Epub 2019 Mar 8 doi: 10.1177/1120672119836335. PMID: 30845840
Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate.
Matovinovic E, Kho PF, Lea RA, Benton MC, Eccles DA, Haupt LM, Hewitt AW, Sherwin JC, Mackey DA, Griffiths LR
Mol Vis 2017;23:660-665. Epub 2017 Sep 28 PMID: 28966548Free PMC Article
Mutational analysis of MIR184 in sporadic keratoconus and myopia.
Lechner J, Bae HA, Guduric-Fuchs J, Rice A, Govindarajan G, Siddiqui S, Abi Farraj L, Yip SP, Yap M, Das M, Souzeau E, Coster D, Mills RA, Lindsay R, Phillips T, Mitchell P, Ali M, Inglehearn CF, Sundaresan P, Craig JE, Simpson DA, Burdon KP, Willoughby CE
Invest Ophthalmol Vis Sci 2013 Aug 5;54(8):5266-72. doi: 10.1167/iovs.13-12035. PMID: 23833072
Topiramate maculopathy.
Gualtieri W, Janula J
Int Ophthalmol 2013 Feb;33(1):103-6. Epub 2012 Sep 28 doi: 10.1007/s10792-012-9640-3. PMID: 23015022

Recent systematic reviews

Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype-phenotype correlation.
Li JT, Chen ZX, Chen XJ, Jiang YX
Orphanet J Rare Dis 2022 Oct 27;17(1):392. doi: 10.1186/s13023-022-02544-x. PMID: 36303223Free PMC Article

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