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Retinal dystrophy with or without macular staphyloma(RDMS)

MedGen UID:
1381980
Concept ID:
C4479651
Disease or Syndrome
Synonyms: RDMS; RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
 
Gene (location): CFAP410 (21q22.3)
 
Monarch Initiative: MONDO:0060507
OMIM®: 617547

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Truncal obesity
MedGen UID:
1637490
Concept ID:
C4551560
Finding
Obesity located preferentially in the trunk of the body as opposed to the extremities.
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Central scotoma
MedGen UID:
57750
Concept ID:
C0152191
Finding
An area of depressed vision located at the point of fixation and that interferes with central vision.
Staphyloma posticum
MedGen UID:
509934
Concept ID:
C0155360
Disease or Syndrome
A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Nuclear cataract
MedGen UID:
140274
Concept ID:
C0392557
Finding
A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.
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.
Posterior subcapsular cataract
MedGen UID:
163646
Concept ID:
C0858617
Acquired Abnormality
A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Retinal pigment epithelial mottling
MedGen UID:
347513
Concept ID:
C1857644
Finding
Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding

Professional guidelines

PubMed

Nguyen XT, Moekotte L, Plomp AS, Bergen AA, van Genderen MM, Boon CJF
Int J Mol Sci 2023 Apr 19;24(8) doi: 10.3390/ijms24087481. PMID: 37108642Free PMC Article
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942Free PMC Article
Karaa A, Goldstein A
Pediatr Diabetes 2015 Feb;16(1):1-9. Epub 2014 Oct 20 doi: 10.1111/pedi.12223. PMID: 25330715

Recent clinical studies

Etiology

Nguyen XT, Moekotte L, Plomp AS, Bergen AA, van Genderen MM, Boon CJF
Int J Mol Sci 2023 Apr 19;24(8) doi: 10.3390/ijms24087481. PMID: 37108642Free PMC Article
Georgiou M, Fujinami K, Michaelides M
Clin Exp Ophthalmol 2021 Apr;49(3):270-288. Epub 2021 Mar 20 doi: 10.1111/ceo.13917. PMID: 33686777
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ
Prog Retin Eye Res 2018 Sep;66:157-186. Epub 2018 Mar 27 doi: 10.1016/j.preteyeres.2018.03.005. PMID: 29597005
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, Davis M, Raffini L, George LA, Hudson FP, Dingfield L, Zhu X, Haller JA, Sohn EH, Mahajan VB, Pfeifer W, Weckmann M, Johnson C, Gewaily D, Drack A, Stone E, Wachtel K, Simonelli F, Leroy BP, Wright JF, High KA, Maguire AM
Lancet 2017 Aug 26;390(10097):849-860. Epub 2017 Jul 14 doi: 10.1016/S0140-6736(17)31868-8. PMID: 28712537Free PMC Article

Diagnosis

Huang CH, Yang CM, Yang CH, Hou YC, Chen TC
Genes (Basel) 2021 Aug 19;12(8) doi: 10.3390/genes12081261. PMID: 34440435Free PMC Article
Georgiou M, Fujinami K, Michaelides M
Clin Exp Ophthalmol 2021 Apr;49(3):270-288. Epub 2021 Mar 20 doi: 10.1111/ceo.13917. PMID: 33686777
Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K
Sci Rep 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2. PMID: 30718709Free PMC Article
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ
Prog Retin Eye Res 2018 Sep;66:157-186. Epub 2018 Mar 27 doi: 10.1016/j.preteyeres.2018.03.005. PMID: 29597005
Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, Davis M, Raffini L, George LA, Hudson FP, Dingfield L, Zhu X, Haller JA, Sohn EH, Mahajan VB, Pfeifer W, Weckmann M, Johnson C, Gewaily D, Drack A, Stone E, Wachtel K, Simonelli F, Leroy BP, Wright JF, High KA, Maguire AM
Lancet 2017 Aug 26;390(10097):849-860. Epub 2017 Jul 14 doi: 10.1016/S0140-6736(17)31868-8. PMID: 28712537Free PMC Article

Therapy

Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, Nanda A, Davies A, Wood LJ, Salvetti AP, Fischer MD, Aylward JW, Barnard AR, Jolly JK, Luo E, Lujan BJ, Ong T, Girach A, Black GCM, Gregori NZ, Davis JL, Rosa PR, Lotery AJ, Lam BL, Stanga PE, MacLaren RE
Nat Med 2020 Mar;26(3):354-359. Epub 2020 Feb 24 doi: 10.1038/s41591-020-0763-1. PMID: 32094925Free PMC Article
Rahman N, Georgiou M, Khan KN, Michaelides M
Br J Ophthalmol 2020 Apr;104(4):451-460. Epub 2019 Nov 8 doi: 10.1136/bjophthalmol-2019-315086. PMID: 31704701Free PMC Article
Athanasiou D, Aguila M, Bellingham J, Li W, McCulley C, Reeves PJ, Cheetham ME
Prog Retin Eye Res 2018 Jan;62:1-23. Epub 2017 Oct 16 doi: 10.1016/j.preteyeres.2017.10.002. PMID: 29042326Free PMC Article
Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, Davis M, Raffini L, George LA, Hudson FP, Dingfield L, Zhu X, Haller JA, Sohn EH, Mahajan VB, Pfeifer W, Weckmann M, Johnson C, Gewaily D, Drack A, Stone E, Wachtel K, Simonelli F, Leroy BP, Wright JF, High KA, Maguire AM
Lancet 2017 Aug 26;390(10097):849-860. Epub 2017 Jul 14 doi: 10.1016/S0140-6736(17)31868-8. PMID: 28712537Free PMC Article
Hartong DT, Berson EL, Dryja TP
Lancet 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140-6736(06)69740-7. PMID: 17113430

Prognosis

Nguyen XT, Moekotte L, Plomp AS, Bergen AA, van Genderen MM, Boon CJF
Int J Mol Sci 2023 Apr 19;24(8) doi: 10.3390/ijms24087481. PMID: 37108642Free PMC Article
Huang CH, Yang CM, Yang CH, Hou YC, Chen TC
Genes (Basel) 2021 Aug 19;12(8) doi: 10.3390/genes12081261. PMID: 34440435Free PMC Article
Chiu W, Lin TY, Chang YC, Isahwan-Ahmad Mulyadi Lai H, Lin SC, Ma C, Yarmishyn AA, Lin SC, Chang KJ, Chou YB, Hsu CC, Lin TC, Chen SJ, Chien Y, Yang YP, Hwang DK
Int J Mol Sci 2021 Apr 26;22(9) doi: 10.3390/ijms22094534. PMID: 33926102Free PMC Article
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Clinical prediction guides

Suga A, Yoshitake K, Minematsu N, Tsunoda K, Fujinami K, Miyake Y, Kuniyoshi K, Hayashi T, Mizobuchi K, Ueno S, Terasaki H, Kominami T, Nao-I N, Mawatari G, Mizota A, Shinoda K, Kondo M, Kato K, Sekiryu T, Nakamura M, Kusuhara S, Yamamoto H, Yamamoto S, Mochizuki K, Kondo H, Matsushita I, Kameya S, Fukuchi T, Hatase T, Horiguchi M, Shimada Y, Tanikawa A, Yamamoto S, Miura G, Ito N, Murakami A, Fujimaki T, Hotta Y, Tanaka K, Iwata T
Hum Mutat 2022 Dec;43(12):2251-2264. Epub 2022 Nov 7 doi: 10.1002/humu.24492. PMID: 36284460
Schneider N, Sundaresan Y, Gopalakrishnan P, Beryozkin A, Hanany M, Levanon EY, Banin E, Ben-Aroya S, Sharon D
Prog Retin Eye Res 2022 Jul;89:101029. Epub 2021 Nov 25 doi: 10.1016/j.preteyeres.2021.101029. PMID: 34839010
Chiu W, Lin TY, Chang YC, Isahwan-Ahmad Mulyadi Lai H, Lin SC, Ma C, Yarmishyn AA, Lin SC, Chang KJ, Chou YB, Hsu CC, Lin TC, Chen SJ, Chien Y, Yang YP, Hwang DK
Int J Mol Sci 2021 Apr 26;22(9) doi: 10.3390/ijms22094534. PMID: 33926102Free PMC Article
Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, Davis M, Raffini L, George LA, Hudson FP, Dingfield L, Zhu X, Haller JA, Sohn EH, Mahajan VB, Pfeifer W, Weckmann M, Johnson C, Gewaily D, Drack A, Stone E, Wachtel K, Simonelli F, Leroy BP, Wright JF, High KA, Maguire AM
Lancet 2017 Aug 26;390(10097):849-860. Epub 2017 Jul 14 doi: 10.1016/S0140-6736(17)31868-8. PMID: 28712537Free PMC Article
Ohno-Matsui K, Kawasaki R, Jonas JB, Cheung CM, Saw SM, Verhoeven VJ, Klaver CC, Moriyama M, Shinohara K, Kawasaki Y, Yamazaki M, Meuer S, Ishibashi T, Yasuda M, Yamashita H, Sugano A, Wang JJ, Mitchell P, Wong TY; META-analysis for Pathologic Myopia (META-PM) Study Group
Am J Ophthalmol 2015 May;159(5):877-83.e7. Epub 2015 Jan 26 doi: 10.1016/j.ajo.2015.01.022. PMID: 25634530

Recent systematic reviews

Chen X, Xu N, Li J, Zhao M, Huang L
Stem Cell Res Ther 2023 Oct 5;14(1):286. doi: 10.1186/s13287-023-03526-x. PMID: 37798796Free PMC Article
Viering DHHM, Vermeltfoort L, Bindels RJM, Deinum J, de Baaij JHF
J Am Soc Nephrol 2023 Nov 1;34(11):1875-1888. Epub 2023 Sep 6 doi: 10.1681/ASN.0000000000000224. PMID: 37678265Free PMC Article
Singh J, Goodman-Vincent E, Santosh P
Int J Mol Sci 2023 May 19;24(10) doi: 10.3390/ijms24109023. PMID: 37240368Free PMC Article
Samoilă L, Voștinaru O, Dinte E, Bodoki AE, Iacob BC, Bodoki E, Samoilă O
Int J Mol Sci 2023 Apr 28;24(9) doi: 10.3390/ijms24098045. PMID: 37175752Free PMC Article
Britten-Jones AC, Gocuk SA, Goh KL, Huq A, Edwards TL, Ayton LN
Am J Ophthalmol 2023 May;249:57-73. Epub 2022 Dec 30 doi: 10.1016/j.ajo.2022.12.027. PMID: 36592879

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