Myopia 28, autosomal recessive(MYP28)

MedGen UID:: 1806812
•Concept ID:: C5676935
•: Disease or Syndrome

Synonym:	MYP28

Gene (location): Gene(s) directly associated with this condition or phenotype.	LOXL3 (2p13.1)

Monarch Initiative:	MONDO:0030697
OMIM®:	619781

Definition

Myopia-28 (MYP28) is characterized by early-onset high myopia in the first decade of life. Retinal detachment may occur, and early-onset cataract has been reported (Li et al., 2016; Maddirevula et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of myopia, see MYP2 (160700). [from OMIM]

Clinical features

From HPO

Retinal detachment

MedGen UID:: 19759
•Concept ID:: C0035305
•: Disease or Syndrome

Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).

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Cataract

MedGen UID:: 39462
•Concept ID:: C0086543
•: Disease or Syndrome

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

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High myopia

MedGen UID:: 78759
•Concept ID:: C0271183
•: Disease or Syndrome

A severe form of myopia with greater than -6.00 diopters.

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Abnormality of the eye

Professional guidelines

PubMed

Molecular genetic analysis of a consanguineous south Indian family with congenital glaucoma: relevance of genetic testing and counseling.

Ramprasad VL, George RJ, Sripriya S, Nirmaladevi J, Vijaya L, Kumaramanickavel G
Ophthalmic Genet 2007 Mar;28(1):17-24. doi: 10.1080/13816810701199449. PMID: 17454743

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Recent clinical studies

Etiology

Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report.

Zekušić M, Škaričić A, Fumić K, Rogić D, Žigman T, Petković Ramadža D, Vukojević N, Rüfenacht V, Uroić V, Barić I
Biochem Med (Zagreb) 2018 Oct 15;28(3):030801. doi: 10.11613/BM.2018.030801. PMID: 30429681 Free PMC Article

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E
Am J Hum Genet 2016 May 5;98(5):1011-1019. Epub 2016 Apr 7 doi: 10.1016/j.ajhg.2016.03.021. PMID: 27063057 Free PMC Article

Molecular genetic analysis of a consanguineous south Indian family with congenital glaucoma: relevance of genetic testing and counseling.

Ramprasad VL, George RJ, Sripriya S, Nirmaladevi J, Vijaya L, Kumaramanickavel G
Ophthalmic Genet 2007 Mar;28(1):17-24. doi: 10.1080/13816810701199449. PMID: 17454743

Family aggregation of high myopia: estimation of the sibling recurrence risk ratio.

Farbrother JE, Kirov G, Owen MJ, Guggenheim JA
Invest Ophthalmol Vis Sci 2004 Sep;45(9):2873-8. doi: 10.1167/iovs.03-1155. PMID: 15326097

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Diagnosis

Inherited retinal dystrophies in a Kuwaiti tribe.

Pandova MG, Abduljalil T, Elshafey AE, Abdelmoaty SMA, Albastawisy HI, Bastaki LA, Alsaleh H, Kozak I, AlMerjan JI
Ophthalmic Genet 2022 Aug;43(4):438-445. Epub 2022 Mar 10 doi: 10.1080/13816810.2022.2045509. PMID: 35272565

Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.

Dias MS, Hamel CP, Meunier I, Varin J, Blanchard S, Boyard F, Sahel JA, Zeitz C
Mol Vis 2017;23:131-139. Epub 2017 Mar 18 PMID: 28356705 Free PMC Article

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

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