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Retinal dystrophy and obesity(RDOB)

MedGen UID:
863861
Concept ID:
C4015424
Disease or Syndrome
Synonym: RDOB
 
Gene (location): TUB (11p15.4)
 
Monarch Initiative: MONDO:0014522
OMIM®: 616188

Clinical features

From HPO
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Astigmatism
MedGen UID:
2473
Concept ID:
C0004106
Disease or Syndrome
Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998).
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
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).
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Retinal dystrophy
MedGen UID:
208903
Concept ID:
C0854723
Finding
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
Peripapillary atrophy
MedGen UID:
473480
Concept ID:
C1719838
Pathologic Function
Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.
Retinal pigment epithelial atrophy
MedGen UID:
333564
Concept ID:
C1840457
Finding
Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Retinal dots
MedGen UID:
1671040
Concept ID:
C4732809
Finding
Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.

Professional guidelines

PubMed

Florea L, Caba L, Gorduza EV
Genes (Basel) 2021 Aug 29;12(9) doi: 10.3390/genes12091353. PMID: 34573333Free PMC Article
Castro-Sánchez S, Álvarez-Satta M, Cortón M, Guillén E, Ayuso C, Valverde D
J Med Genet 2015 Aug;52(8):503-13. Epub 2015 Jun 16 doi: 10.1136/jmedgenet-2015-103099. PMID: 26082521
Cantani A, Bellioni P, Bamonte G, Salvinelli F, Bamonte MT
Clin Pediatr (Phila) 1985 Oct;24(10):578-83. doi: 10.1177/000992288502401006. PMID: 3896611

Recent clinical studies

Etiology

Tomlinson JW
Diabetes Obes Metab 2024 Apr;26 Suppl 2:13-24. Epub 2024 Feb 1 doi: 10.1111/dom.15480. PMID: 38302651
Solarat C, Valverde D
Methods Cell Biol 2023;176:125-137. Epub 2023 Jan 9 doi: 10.1016/bs.mcb.2022.12.014. PMID: 37164534
Forsythe E, Beales PL
Eur J Hum Genet 2013 Jan;21(1):8-13. Epub 2012 Jun 20 doi: 10.1038/ejhg.2012.115. PMID: 22713813Free PMC Article
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554
Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR
Nat Genet 2000 Sep;26(1):67-70. doi: 10.1038/79201. PMID: 10973251

Diagnosis

Florea L, Caba L, Gorduza EV
Genes (Basel) 2021 Aug 29;12(9) doi: 10.3390/genes12091353. PMID: 34573333Free PMC Article
Tsang SH, Aycinena ARP, Sharma T
Adv Exp Med Biol 2018;1085:179-180. doi: 10.1007/978-3-319-95046-4_35. PMID: 30578508
Forsythe E, Beales PL
Eur J Hum Genet 2013 Jan;21(1):8-13. Epub 2012 Jun 20 doi: 10.1038/ejhg.2012.115. PMID: 22713813Free PMC Article
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554
Hrynchak PK
Optom Vis Sci 2000 May;77(5):236-43. doi: 10.1097/00006324-200005000-00010. PMID: 10831213

Therapy

Alexander V, George T, Devarajan G, Zachariah A
BMJ Case Rep 2019 Apr 30;12(4) doi: 10.1136/bcr-2019-229788. PMID: 31040148Free PMC Article
Wormser O, Gradstein L, Yogev Y, Perez Y, Kadir R, Goliand I, Sadka Y, El Riati S, Flusser H, Nachmias D, Birk R, Iraqi M, Kadar E, Gat R, Drabkin M, Halperin D, Horev A, Sivan S, Abdu U, Elia N, Birk OS
Eur J Hum Genet 2019 Jun;27(6):928-940. Epub 2019 Feb 5 doi: 10.1038/s41431-019-0347-z. PMID: 30723319Free PMC Article
Vora KS, Modi MP, Butala BP, Shah VR
Saudi J Kidney Dis Transpl 2017 Mar-Apr;28(2):384-387. doi: 10.4103/1319-2442.202775. PMID: 28352024
Larrañaga-Fragoso P, Pastora N, Bravo-Ljubetic L, Peralta J, Abelairas-Gómez J
Ophthalmic Genet 2016 Dec;37(4):427-429. Epub 2016 Feb 19 doi: 10.3109/13816810.2015.1094493. PMID: 26894450
Mihai CM, Catrinoiu D, Marshall J, Stoicescu R, Tofolean IT
J Med Life 2008 Jul-Sep;1(3):254-61. PMID: 20108502Free PMC Article

Prognosis

Brown DA, Perry JB, Allen ME, Sabbah HN, Stauffer BL, Shaikh SR, Cleland JG, Colucci WS, Butler J, Voors AA, Anker SD, Pitt B, Pieske B, Filippatos G, Greene SJ, Gheorghiade M
Nat Rev Cardiol 2017 Apr;14(4):238-250. Epub 2016 Dec 22 doi: 10.1038/nrcardio.2016.203. PMID: 28004807Free PMC Article
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554
Katsanis N, Lupski JR, Beales PL
Hum Mol Genet 2001 Oct 1;10(20):2293-9. doi: 10.1093/hmg/10.20.2293. PMID: 11673413
Hrynchak PK
Optom Vis Sci 2000 May;77(5):236-43. doi: 10.1097/00006324-200005000-00010. PMID: 10831213
Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF
Ophthalmology 1998 Jul;105(7):1274-80. doi: 10.1016/S0161-6420(98)97033-6. PMID: 9663233

Clinical prediction guides

Khan S, Focșa IO, Budișteanu M, Stoica C, Nedelea F, Bohîlțea L, Caba L, Butnariu L, Pânzaru M, Rusu C, Jurcă C, Chirita-Emandi A, Bănescu C, Abbas W, Sadeghpour A, Baig SM, Bălgrădean M, Davis EE
Am J Med Genet A 2023 Sep;191(9):2376-2391. Epub 2023 Jun 9 doi: 10.1002/ajmg.a.63322. PMID: 37293956Free PMC Article
Zhong J, Xie Y, Ye H, Chen C, Sun T, Xu K, Zhang X, Li Y
Eye (Lond) 2023 Nov;37(16):3398-3405. Epub 2023 Apr 8 doi: 10.1038/s41433-023-02516-w. PMID: 37031301Free PMC Article
Castro-Sánchez S, Álvarez-Satta M, Cortón M, Guillén E, Ayuso C, Valverde D
J Med Genet 2015 Aug;52(8):503-13. Epub 2015 Jun 16 doi: 10.1136/jmedgenet-2015-103099. PMID: 26082521
Forsythe E, Beales PL
Eur J Hum Genet 2013 Jan;21(1):8-13. Epub 2012 Jun 20 doi: 10.1038/ejhg.2012.115. PMID: 22713813Free PMC Article
Hampshire DJ, Ayub M, Springell K, Roberts E, Jafri H, Rashid Y, Bond J, Riley JH, Woods CG
Eur J Hum Genet 2006 May;14(5):543-8. doi: 10.1038/sj.ejhg.5201577. PMID: 16493448

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