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Retinal degeneration-nanophthalmos-glaucoma syndrome

MedGen UID:
444153
Concept ID:
C2931831
Disease or Syndrome
Synonyms: MacKay Shek Carr syndrome; Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma; Retinal degeneration, nanophthalmos, glaucoma
SNOMED CT: Retinal degeneration, nanophthalmos, glaucoma syndrome (723503006); Mackay Shek Carr syndrome (723503006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0009978
OMIM®: 267760
Orphanet: ORPHA1574

Definition

Syndrome with characteristics of progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. [from SNOMEDCT_US]

Clinical features

From HPO
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
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.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
Cystoid macular degeneration
MedGen UID:
472900
Concept ID:
C0154850
Disease or Syndrome
A form of macular degeneration characterized by the presence of multiple cysts in the macula.
Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
Shallow anterior chamber
MedGen UID:
602215
Concept ID:
C0423276
Finding
Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.
Macular atrophy
MedGen UID:
140841
Concept ID:
C0423421
Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRetinal degeneration-nanophthalmos-glaucoma syndrome
Follow this link to review classifications for Retinal degeneration-nanophthalmos-glaucoma syndrome in Orphanet.

Professional guidelines

PubMed

Fanouriakis A, Kostopoulou M, Andersen J, Aringer M, Arnaud L, Bae SC, Boletis J, Bruce IN, Cervera R, Doria A, Dörner T, Furie RA, Gladman DD, Houssiau FA, Inês LS, Jayne D, Kouloumas M, Kovács L, Mok CC, Morand EF, Moroni G, Mosca M, Mucke J, Mukhtyar CB, Nagy G, Navarra S, Parodis I, Pego-Reigosa JM, Petri M, Pons-Estel BA, Schneider M, Smolen JS, Svenungsson E, Tanaka Y, Tektonidou MG, Teng YO, Tincani A, Vital EM, van Vollenhoven RF, Wincup C, Bertsias G, Boumpas DT
Ann Rheum Dis 2024 Jan 2;83(1):15-29. doi: 10.1136/ard-2023-224762. PMID: 37827694
Banwell B, Bennett JL, Marignier R, Kim HJ, Brilot F, Flanagan EP, Ramanathan S, Waters P, Tenembaum S, Graves JS, Chitnis T, Brandt AU, Hemingway C, Neuteboom R, Pandit L, Reindl M, Saiz A, Sato DK, Rostasy K, Paul F, Pittock SJ, Fujihara K, Palace J
Lancet Neurol 2023 Mar;22(3):268-282. Epub 2023 Jan 24 doi: 10.1016/S1474-4422(22)00431-8. PMID: 36706773
Fraser CL, Hepschke JL, Jenkins B, Prasad S
Semin Neurol 2019 Dec;39(6):739-748. Epub 2019 Dec 17 doi: 10.1055/s-0039-1700525. PMID: 31847045

Recent clinical studies

Etiology

Putera I, Ridwan AS, Dewi M, Cifuentes-González C, Rojas-Carabali W, Sitompul R, Edwar L, Susiyanti M, Aziza Y, Pavesio C, Chee SP, Mahendradas P, Biswas J, Kempen JH, Gupta V, de-la-Torre A, La Distia Nora R, Agrawal R
Surv Ophthalmol 2024 Jan-Feb;69(1):67-84. Epub 2023 Sep 27 doi: 10.1016/j.survophthal.2023.09.004. PMID: 37774799
Servillo A, Berni A, Marchese A, Bodaghi B, Khairallah M, Read RW, Miserocchi E
Ocul Immunol Inflamm 2023 Sep;31(7):1461-1472. Epub 2023 Jun 26 doi: 10.1080/09273948.2023.2221338. PMID: 37364039
Standardization of Uveitis Nomenclature (SUN) Working Group
Am J Ophthalmol 2021 Aug;228:237-244. Epub 2021 Apr 15 doi: 10.1016/j.ajo.2021.03.057. PMID: 33845012Free 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
Taylor GH
Am Fam Physician 2003 Feb 1;67(3):519-24. PMID: 12588074

Diagnosis

Servillo A, Berni A, Marchese A, Bodaghi B, Khairallah M, Read RW, Miserocchi E
Ocul Immunol Inflamm 2023 Sep;31(7):1461-1472. Epub 2023 Jun 26 doi: 10.1080/09273948.2023.2221338. PMID: 37364039
Standardization of Uveitis Nomenclature (SUN) Working Group
Am J Ophthalmol 2021 Aug;228:237-244. Epub 2021 Apr 15 doi: 10.1016/j.ajo.2021.03.057. PMID: 33845012Free PMC Article
Wons J, Kempen J, Garweg JG
Ocul Immunol Inflamm 2020 Nov 16;28(8):1259-1268. Epub 2020 Sep 23 doi: 10.1080/09273948.2020.1808225. PMID: 32966142
Port AD, Orlin A, Kiss S, Patel S, D'Amico DJ, Gupta MP
J Ocul Pharmacol Ther 2017 May;33(4):224-234. Epub 2017 Mar 29 doi: 10.1089/jop.2016.0140. PMID: 28355091
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Therapy

Wons J, Kempen J, Garweg JG
Ocul Immunol Inflamm 2020 Nov 16;28(8):1259-1268. Epub 2020 Sep 23 doi: 10.1080/09273948.2020.1808225. PMID: 32966142
Cunningham ET Jr, Wong RW, Takakura A, Downes KM, Zierhut M
Ocul Immunol Inflamm 2014 Jun;22(3):167-9. doi: 10.3109/09273948.2014.925378. PMID: 24856278
Cordero-Coma M, Anzaar F, Yilmaz T, Foster CS
Herpes 2007 Jun;14(1):4-10. PMID: 17848212
Bonfioli AA, Eller AW
Semin Ophthalmol 2005 Jul-Sep;20(3):155-60. doi: 10.1080/08820530500232027. PMID: 16282149
Taylor GH
Am Fam Physician 2003 Feb 1;67(3):519-24. PMID: 12588074

Prognosis

Phasukkijwatana N, Freund KB, Dolz-Marco R, Al-Sheikh M, Keane PA, Egan CA, Randhawa S, Stewart JM, Liu Q, Hunyor AP, Kreiger A, Nagiel A, Lalane R, Rahimi M, Lee WK, Jampol LM, Sarraf D
Retina 2018 Sep;38(9):1652-1667. doi: 10.1097/IAE.0000000000001907. PMID: 29135799
Cunningham ET Jr, Wong RW, Takakura A, Downes KM, Zierhut M
Ocul Immunol Inflamm 2014 Jun;22(3):167-9. doi: 10.3109/09273948.2014.925378. PMID: 24856278
Cordero-Coma M, Anzaar F, Yilmaz T, Foster CS
Herpes 2007 Jun;14(1):4-10. PMID: 17848212
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article
Merin S, Auerbach E
Surv Ophthalmol 1976 Mar-Apr;20(5):303-46. doi: 10.1016/s0039-6257(96)90001-6. PMID: 817406

Clinical prediction guides

Putera I, Ridwan AS, Dewi M, Cifuentes-González C, Rojas-Carabali W, Sitompul R, Edwar L, Susiyanti M, Aziza Y, Pavesio C, Chee SP, Mahendradas P, Biswas J, Kempen JH, Gupta V, de-la-Torre A, La Distia Nora R, Agrawal R
Surv Ophthalmol 2024 Jan-Feb;69(1):67-84. Epub 2023 Sep 27 doi: 10.1016/j.survophthal.2023.09.004. PMID: 37774799
Kaltak M, Blanco-Garavito R, Molday LL, Dhaenens CM, Souied EE, Platenburg G, Swildens J, Molday RS, Cremers FPM
J Transl Med 2023 Aug 16;21(1):546. doi: 10.1186/s12967-023-04406-x. PMID: 37587475Free PMC Article
Ozdemir Yalcinsoy K, Cakar Ozdal P, Inanc Tekin M, Karatepe MS, Ozdamar Erol Y
Int Ophthalmol 2023 Jun;43(6):1987-1994. Epub 2022 Nov 27 doi: 10.1007/s10792-022-02598-7. PMID: 36436167
Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M
Br J Ophthalmol 2016 Jan;100(1):115-21. Epub 2015 Mar 13 doi: 10.1136/bjophthalmol-2014-306505. PMID: 25770143Free PMC Article
De Laey JJ
Bull Soc Belge Ophtalmol 1993;249:11-22. PMID: 7952338

Recent systematic reviews

Putera I, Ridwan AS, Dewi M, Cifuentes-González C, Rojas-Carabali W, Sitompul R, Edwar L, Susiyanti M, Aziza Y, Pavesio C, Chee SP, Mahendradas P, Biswas J, Kempen JH, Gupta V, de-la-Torre A, La Distia Nora R, Agrawal R
Surv Ophthalmol 2024 Jan-Feb;69(1):67-84. Epub 2023 Sep 27 doi: 10.1016/j.survophthal.2023.09.004. PMID: 37774799
Bea-Mascato B, Valverde D
J Med Genet 2023 Dec 21;61(1):18-26. doi: 10.1136/jmg-2023-109175. PMID: 37321834Free PMC Article
Turk MA, Hayworth JL, Nevskaya T, Pope JE
J Rheumatol 2021 Jan 1;48(1):25-34. Epub 2020 May 1 doi: 10.3899/jrheum.190768. PMID: 32358156
Terelak-Borys B, Skonieczna K, Grabska-Liberek I
Med Sci Monit 2012 Aug;18(8):RA138-144. doi: 10.12659/msm.883260. PMID: 22847215Free PMC Article
Müller M, Wandel S, Colebunders R, Attia S, Furrer H, Egger M; IeDEA Southern and Central Africa
Lancet Infect Dis 2010 Apr;10(4):251-61. doi: 10.1016/S1473-3099(10)70026-8. PMID: 20334848Free PMC Article

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