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Nanophthalmos 1(TMEM98)

MedGen UID:
325037
•Concept ID:
C1838502
•
Disease or Syndrome
Synonyms: MICROPHTHALMOS, SIMPLE, AUTOSOMAL DOMINANT; NANOPHTHALMIA 1; NANOPHTHALMOS WITH HIGH HYPEROPIA AND ANGLE-CLOSURE GLAUCOMA; NANOPHTHALMOS, AUTOSOMAL DOMINANT; NNO1; TMEM98
 
Monarch Initiative: MONDO:0010836
OMIM®: 600165

Definition

Autosomal dominant nanophthalmos is characterized by a small eye, as indicated by short axial length, high hyperopia, high lens/eye volume ratio, and a high incidence of angle-closure glaucoma (summary by Othman et al., 1998). Genetic Heterogeneity of Nanophthalmos Nanophthalmos-1 (NNO1) has been mapped to chromosome 11p. Nanophthalmos-2 (NNO2; 609549) is caused by mutation in the MFRP gene (606227) on chromosome 11q23. Nanophthalmos-3 (NNO3; 611897) has been mapped to chromosome 2q11-q14. Nanophthalmos-4 (NNO4; 615972) is caused by mutation in the TMEM98 gene (615949) on chromosome 17q11. [from OMIM]

Clinical features

From HPO
Bilateral microphthalmos
MedGen UID:
334420
•Concept ID:
C1843496
•
Congenital Abnormality
A developmental anomaly characterized by abnormal smallness of both eyes.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Siggs OM, Awadalla MS, Souzeau E, Staffieri SE, Kearns LS, Laurie K, Kuot A, Qassim A, Edwards TL, Coote MA, Mancel E, Walland MJ, Dondey J, Galanopoulous A, Casson RJ, Mills RA, MacArthur DG, Ruddle JB, Burdon KP, Craig JE
Clin Genet 2020 May;97(5):764-769. Epub 2020 Mar 5 doi: 10.1111/cge.13722. PMID: 32052405Free PMC Article
Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF.
Siggs OM, Souzeau E, Breen J, Qassim A, Zhou T, Dubowsky A, Ruddle JB, Craig JE
Mol Vis 2019;25:527-534. Epub 2019 Sep 21 PMID: 31700225Free PMC Article
Research progress on human genes involved in the pathogenesis of glaucoma (Review).
Wang HW, Sun P, Chen Y, Jiang LP, Wu HP, Zhang W, Gao F
Mol Med Rep 2018 Jul;18(1):656-674. Epub 2018 May 23 doi: 10.3892/mmr.2018.9071. PMID: 29845210Free PMC Article
High-hyperopia database, part I: clinical characterisation including morphometric (biometric) differentiation of posterior microphthalmos from nanophthalmos.
Relhan N, Jalali S, Pehre N, Rao HL, Manusani U, Bodduluri L
Eye (Lond) 2016 Jan;30(1):120-6. Epub 2015 Oct 23 doi: 10.1038/eye.2015.206. PMID: 26493039Free PMC Article
Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.
Khorram D, Choi M, Roos BR, Stone EM, Kopel T, Allen R, Alward WL, Scheetz TE, Fingert JH
Mol Vis 2015;21:1017-23. Epub 2015 Sep 1 PMID: 26392740Free PMC Article

Diagnosis

A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.
Koenighofer M, Parzefall T, Frohne A, Frei E, Waldstein SM, Mitulovic G, Schoefer C, Frei K, Lucas T
Exp Eye Res 2021 Apr;205:108497. Epub 2021 Feb 14 doi: 10.1016/j.exer.2021.108497. PMID: 33596443
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Siggs OM, Awadalla MS, Souzeau E, Staffieri SE, Kearns LS, Laurie K, Kuot A, Qassim A, Edwards TL, Coote MA, Mancel E, Walland MJ, Dondey J, Galanopoulous A, Casson RJ, Mills RA, MacArthur DG, Ruddle JB, Burdon KP, Craig JE
Clin Genet 2020 May;97(5):764-769. Epub 2020 Mar 5 doi: 10.1111/cge.13722. PMID: 32052405Free PMC Article
Research progress on human genes involved in the pathogenesis of glaucoma (Review).
Wang HW, Sun P, Chen Y, Jiang LP, Wu HP, Zhang W, Gao F
Mol Med Rep 2018 Jul;18(1):656-674. Epub 2018 May 23 doi: 10.3892/mmr.2018.9071. PMID: 29845210Free PMC Article
Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.
Khorram D, Choi M, Roos BR, Stone EM, Kopel T, Allen R, Alward WL, Scheetz TE, Fingert JH
Mol Vis 2015;21:1017-23. Epub 2015 Sep 1 PMID: 26392740Free PMC Article
Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.
Awadalla MS, Burdon KP, Souzeau E, Landers J, Hewitt AW, Sharma S, Craig JE
JAMA Ophthalmol 2014 Aug;132(8):970-7. doi: 10.1001/jamaophthalmol.2014.946. PMID: 24852644

Therapy

A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.
Reddy MA, Francis PJ, Berry V, Bradshaw K, Patel RJ, Maher ER, Kumar R, Bhattacharya SS, Moore AT
Br J Ophthalmol 2003 Feb;87(2):197-202. doi: 10.1136/bjo.87.2.197. PMID: 12543751Free PMC Article

Prognosis

A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.
Koenighofer M, Parzefall T, Frohne A, Frei E, Waldstein SM, Mitulovic G, Schoefer C, Frei K, Lucas T
Exp Eye Res 2021 Apr;205:108497. Epub 2021 Feb 14 doi: 10.1016/j.exer.2021.108497. PMID: 33596443
Research progress on human genes involved in the pathogenesis of glaucoma (Review).
Wang HW, Sun P, Chen Y, Jiang LP, Wu HP, Zhang W, Gao F
Mol Med Rep 2018 Jul;18(1):656-674. Epub 2018 May 23 doi: 10.3892/mmr.2018.9071. PMID: 29845210Free PMC Article

Clinical prediction guides

A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.
Koenighofer M, Parzefall T, Frohne A, Frei E, Waldstein SM, Mitulovic G, Schoefer C, Frei K, Lucas T
Exp Eye Res 2021 Apr;205:108497. Epub 2021 Feb 14 doi: 10.1016/j.exer.2021.108497. PMID: 33596443
Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.
Awadalla MS, Burdon KP, Souzeau E, Landers J, Hewitt AW, Sharma S, Craig JE
JAMA Ophthalmol 2014 Aug;132(8):970-7. doi: 10.1001/jamaophthalmol.2014.946. PMID: 24852644
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.
Reddy MA, Francis PJ, Berry V, Bradshaw K, Patel RJ, Maher ER, Kumar R, Bhattacharya SS, Moore AT
Br J Ophthalmol 2003 Feb;87(2):197-202. doi: 10.1136/bjo.87.2.197. PMID: 12543751Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

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    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
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    • PubMed (OMIM)
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