Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Myopia 17, autosomal dominant(MYP17; MYP4, FORMERLY)

MedGen UID:: 854818
•Concept ID:: C3888211
•: Disease or Syndrome

Synonyms:	MYOPIA 4; MYP17

Monarch Initiative:	MONDO:0012021
OMIM®:	608367

Definition

Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004). For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700. [from OMIM]

Clinical features

From HPO

Presenile cataracts

MedGen UID:: 56349
•Concept ID:: C0154971
•: Finding

Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.

See: Feature record | Search on this feature

High myopia

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

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

See: Feature record | Search on this feature

Retinal hole

MedGen UID:: 1642357
•Concept ID:: C4551442
•: Disease or Syndrome

A small break in the retina.

See: Feature record | Search on this feature

Abnormality of the eye

Professional guidelines

PubMed

Etiopathogenesis and management of high-degree myopia. Part I.

Zejmo M, Formińska-Kapuścik M, Pieczara E, Filipek E, Mrukwa-Kominek E, Samochowiec-Donocik E, Leszczyński R, Smuzyńska M
Med Sci Monit 2009 Sep;15(9):RA199-202. PMID: 19721411

See all (1)

Recent clinical studies

Etiology

Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.

Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV
Am J Ophthalmol 2018 Jun;190:58-68. Epub 2018 Mar 17 doi: 10.1016/j.ajo.2018.03.021. PMID: 29559409

Severity of familial isolated retinitis pigmentosa across different inheritance patterns among an Asian Indian cohort.

Bende P, Natarajan K, Marudhamuthu T, Madhavan J
J Pediatr Ophthalmol Strabismus 2013 Jan-Feb;50(1):34-6. doi: 10.3928/01913913-20121107-01. PMID: 23463886

Etiopathogenesis and management of high-degree myopia. Part I.

Zejmo M, Formińska-Kapuścik M, Pieczara E, Filipek E, Mrukwa-Kominek E, Samochowiec-Donocik E, Leszczyński R, Smuzyńska M
Med Sci Monit 2009 Sep;15(9):RA199-202. PMID: 19721411

Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.

Gregory-Evans K, Kelsell RE, Gregory-Evans CY, Downes SM, Fitzke FW, Holder GE, Simunovic M, Mollon JD, Taylor R, Hunt DM, Bird AC, Moore AT
Ophthalmology 2000 Jan;107(1):55-61. doi: 10.1016/s0161-6420(99)00038-x. PMID: 10647719

Hypomagnesaemia of hereditary renal origin.

Rodríguez-Soriano J, Vallo A, García-Fuentes M
Pediatr Nephrol 1987 Jul;1(3):465-72. doi: 10.1007/BF00849255. PMID: 3153319

See all (8)

Diagnosis

Severity of familial isolated retinitis pigmentosa across different inheritance patterns among an Asian Indian cohort.

Bende P, Natarajan K, Marudhamuthu T, Madhavan J
J Pediatr Ophthalmol Strabismus 2013 Jan-Feb;50(1):34-6. doi: 10.3928/01913913-20121107-01. PMID: 23463886

Hereditary and clinical features of retinitis pigmentosa in Koreans.

Lee SH, Yu HG, Seo JM, Moon SW, Moon JW, Kim SJ, Chung H
J Korean Med Sci 2010 Jun;25(6):918-23. Epub 2010 May 24 doi: 10.3346/jkms.2010.25.6.918. PMID: 20514315 Free PMC Article

New locus for autosomal dominant high myopia maps to the long arm of chromosome 17.

Paluru P, Ronan SM, Heon E, Devoto M, Wildenberg SC, Scavello G, Holleschau A, Mäkitie O, Cole WG, King RA, Young TL
Invest Ophthalmol Vis Sci 2003 May;44(5):1830-6. doi: 10.1167/iovs.02-0697. PMID: 12714612

Congenitally anomalous tented eyebrows.

Ing EB, Ing SY, Ing TG, Sanger B
Ophthalmic Plast Reconstr Surg 2001 Jan;17(1):56-7. doi: 10.1097/00002341-200101000-00010. PMID: 11206747

Stickler's syndrome (hereditary progressive arthro-ophthalmopathy).

Popkin JS, Polomeno RC
Can Med Assoc J 1974 Nov 16;111(10):1071-6. PMID: 4429933 Free PMC Article

See all (10)

Prognosis

Changes in postoperative refractive outcomes following combined phacoemulsification and pars plana vitrectomy for rhegmatogenous retinal detachment.

Cho KH, Park IW, Kwon SI
Am J Ophthalmol 2014 Aug;158(2):251-256.e2. Epub 2014 Apr 30 doi: 10.1016/j.ajo.2014.04.023. PMID: 24794090

Severity of familial isolated retinitis pigmentosa across different inheritance patterns among an Asian Indian cohort.

Bende P, Natarajan K, Marudhamuthu T, Madhavan J
J Pediatr Ophthalmol Strabismus 2013 Jan-Feb;50(1):34-6. doi: 10.3928/01913913-20121107-01. PMID: 23463886

Etiopathogenesis and management of high-degree myopia. Part I.

Zejmo M, Formińska-Kapuścik M, Pieczara E, Filipek E, Mrukwa-Kominek E, Samochowiec-Donocik E, Leszczyński R, Smuzyńska M
Med Sci Monit 2009 Sep;15(9):RA199-202. PMID: 19721411

See all (3)

Clinical prediction guides

Hereditary and clinical features of retinitis pigmentosa in Koreans.

Lee SH, Yu HG, Seo JM, Moon SW, Moon JW, Kim SJ, Chung H
J Korean Med Sci 2010 Jun;25(6):918-23. Epub 2010 May 24 doi: 10.3346/jkms.2010.25.6.918. PMID: 20514315 Free PMC Article

Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia.

Yang Z, Xiao X, Li S, Zhang Q
Mol Vis 2009;15:312-8. Epub 2009 Feb 9 PMID: 19204786 Free PMC Article

New locus for autosomal dominant high myopia maps to the long arm of chromosome 17.

Familial high myopia linkage to chromosome 18p.

Lam DS, Tam PO, Fan DS, Baum L, Leung YF, Pang CP
Ophthalmologica 2003 Mar-Apr;217(2):115-8. doi: 10.1159/000068554. PMID: 12592049

Hypomagnesaemia of hereditary renal origin.

Rodríguez-Soriano J, Vallo A, García-Fuentes M
Pediatr Nephrol 1987 Jul;1(3):465-72. doi: 10.1007/BF00849255. PMID: 3153319

See all (11)