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Nanophthalmos 4(NNO4)

MedGen UID:
863285
Concept ID:
C4014848
Disease or Syndrome
Synonyms: NANOPHTHALMIA 4; NNO4
 
Gene (location): TMEM98 (17q11.2)
 
Monarch Initiative: MONDO:0014426
OMIM®: 615972

Definition

Nanophthalmos is characterized by axial lengths of the ocular globe that are more than 2 SDs smaller than the normal range, or less than 20 mm in adults, with a cornea and lens that are typically of normal size, associated with severe hyperopia (farsightedness) of +7.00 diopters or more. The smaller dimensions of the anterior chamber depth cause the iridocorneal angle to be typically narrow. Abnormal thickening of the scleral connective tissue is often observed (summary by Awadalla et al., 2014). For a discussion of genetic heterogeneity of nanophthalmos, see NNO1 (600165). [from OMIM]

Clinical features

From HPO
Angle-closure glaucoma
MedGen UID:
6610
Concept ID:
C0017605
Disease or Syndrome
A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact).
Hypermetropia
MedGen UID:
43780
Concept ID:
C0020490
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Optic disc drusen
MedGen UID:
14495
Concept ID:
C0029128
Disease or Syndrome
Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.

Professional guidelines

PubMed

Lang E, Koller S, Atac D, Pfäffli OA, Hanson JVM, Feil S, Bähr L, Bahr A, Kottke R, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, Berger W, Gerth-Kahlert C
Acta Ophthalmol 2021 Jun;99(4):e594-e607. Epub 2020 Sep 30 doi: 10.1111/aos.14615. PMID: 32996714
Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M
Acta Ophthalmol 2020 Dec;98(8):848-858. Epub 2020 May 21 doi: 10.1111/aos.14427. PMID: 32436650
Plaisancié J, Ragge NK, Dollfus H, Kaplan J, Lehalle D, Francannet C, Morin G, Colineaux H, Calvas P, Chassaing N
Clin Genet 2018 Apr;93(4):837-845. doi: 10.1111/cge.13177. PMID: 29136273

Recent clinical studies

Diagnosis

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

Prognosis

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

Clinical prediction guides

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

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