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Spastic ataxia-corneal dystrophy syndrome

MedGen UID:
336493
Concept ID:
C1849085
Disease or Syndrome
Synonyms: Bedouin spastic ataxia syndrome; Mousa Al din Al Nassar syndrome; Spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs; Spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia
SNOMED CT: Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (715465001); Spastic ataxia and corneal dystrophy (715465001); Bedouin spastic ataxia syndrome (715465001); Mousa-Al Din-Al Nassar syndrome (715465001)
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:0010064
OMIM®: 271320
Orphanet: ORPHA2572

Definition

Extremely rare syndrome with features of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. It has been described in an inbred Bedouin family. Immunological abnormalities were frequent. Transmission is autosomal recessive and the disease is monogenic. [from SNOMEDCT_US]

Clinical features

From HPO
Spastic ataxia
MedGen UID:
376528
Concept ID:
C1849156
Disease or Syndrome
Spinocerebellar tract degeneration
MedGen UID:
401075
Concept ID:
C1866751
Disease or Syndrome
Developmental cataract
MedGen UID:
3202
Concept ID:
C0009691
Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
Corneal dystrophy
MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpastic ataxia-corneal dystrophy syndrome
Follow this link to review classifications for Spastic ataxia-corneal dystrophy syndrome in Orphanet.

Professional guidelines

PubMed

Mehta PR, Iacoangeli A, Opie-Martin S, van Vugt JJFA, Al Khleifat A, Bredin A, Ossher L, Andersen PM, Hardiman O, Mehta AR, Fratta P, Talbot K; Project MinE ALS Sequencing Consortium, Al-Chalabi A
Brain 2022 Dec 19;145(12):4440-4447. doi: 10.1093/brain/awac279. PMID: 36162820Free PMC Article
Taira T, Hori T
Acta Neurochir Suppl 2007;97(Pt 1):227-9. doi: 10.1007/978-3-211-33079-1_31. PMID: 17691381

Recent clinical studies

Etiology

Jellinger KA
J Neural Transm (Vienna) 2022 Jun;129(5-6):521-543. Epub 2021 Aug 7 doi: 10.1007/s00702-021-02392-2. PMID: 34363531
Iodice A, Spagnoli C, Salerno GG, Frattini D, Bertani G, Bergonzini P, Pisani F, Fusco C
Brain Dev 2017 Feb;39(2):93-100. Epub 2016 Nov 21 doi: 10.1016/j.braindev.2016.08.012. PMID: 27884548
Wortmann SB, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, de Brouwer AP, Wevers RA
J Inherit Metab Dis 2015 Jan;38(1):99-110. Epub 2014 Sep 2 doi: 10.1007/s10545-014-9759-7. PMID: 25178427
Pertoldi S, Di Benedetto P
Eura Medicophys 2005 Dec;41(4):283-92. PMID: 16474282
Gordon N
Eur J Paediatr Neurol 2002;6(5):243-7. doi: 10.1053/ejpn.2002.0606. PMID: 12374576

Diagnosis

Liu J, Hufnagel RB
Ophthalmic Genet 2023 Dec;44(6):530-538. Epub 2023 Nov 20 doi: 10.1080/13816810.2023.2254830. PMID: 37732399Free PMC Article
Cho KH, Shim SH, Kim M
Clin Genet 2018 Apr;93(4):721-730. Epub 2017 Sep 17 doi: 10.1111/cge.13058. PMID: 28543186
Iodice A, Spagnoli C, Salerno GG, Frattini D, Bertani G, Bergonzini P, Pisani F, Fusco C
Brain Dev 2017 Feb;39(2):93-100. Epub 2016 Nov 21 doi: 10.1016/j.braindev.2016.08.012. PMID: 27884548
Pertoldi S, Di Benedetto P
Eura Medicophys 2005 Dec;41(4):283-92. PMID: 16474282
Hrynchak PK
Optom Vis Sci 2000 May;77(5):236-43. doi: 10.1097/00006324-200005000-00010. PMID: 10831213

Therapy

Welborn MC, Redding G, Evers P, Nicol L, Bauer DF, Iyer RR, Poon S, Hwang S
Spine Deform 2024 Jul;12(4):867-876. Epub 2024 Apr 18 doi: 10.1007/s43390-024-00865-4. PMID: 38634998
Peiris TJ, Indaram M, Koo E, Soul JS, Hunter DG
J AAPOS 2018 Jun;22(3):242-244.e1. Epub 2018 Mar 16 doi: 10.1016/j.jaapos.2017.12.011. PMID: 29555514
Pervane Vural S, Nakipoglu Yuzer GF, Sezgin Ozcan D, Demir Ozbudak S, Ozgirgin N
Arch Phys Med Rehabil 2016 Apr;97(4):575-581. Epub 2015 Dec 23 doi: 10.1016/j.apmr.2015.12.008. PMID: 26723854
Taira T, Hori T
Acta Neurochir Suppl 2007;97(Pt 1):227-9. doi: 10.1007/978-3-211-33079-1_31. PMID: 17691381
Taira T, Hori T
Acta Neurochir Suppl 2003;87:37-8. doi: 10.1007/978-3-7091-6081-7_8. PMID: 14518520

Prognosis

Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H
Brain 2024 Jul 5;147(7):2334-2343. doi: 10.1093/brain/awae091. PMID: 38527963Free PMC Article
Liu J, Hufnagel RB
Ophthalmic Genet 2023 Dec;44(6):530-538. Epub 2023 Nov 20 doi: 10.1080/13816810.2023.2254830. PMID: 37732399Free PMC Article
Cho KH, Shim SH, Kim M
Clin Genet 2018 Apr;93(4):721-730. Epub 2017 Sep 17 doi: 10.1111/cge.13058. PMID: 28543186
Gordon N
Eur J Paediatr Neurol 2002;6(5):243-7. doi: 10.1053/ejpn.2002.0606. PMID: 12374576
Hrynchak PK
Optom Vis Sci 2000 May;77(5):236-43. doi: 10.1097/00006324-200005000-00010. PMID: 10831213

Clinical prediction guides

Mehta PR, Iacoangeli A, Opie-Martin S, van Vugt JJFA, Al Khleifat A, Bredin A, Ossher L, Andersen PM, Hardiman O, Mehta AR, Fratta P, Talbot K; Project MinE ALS Sequencing Consortium, Al-Chalabi A
Brain 2022 Dec 19;145(12):4440-4447. doi: 10.1093/brain/awac279. PMID: 36162820Free PMC Article
Sparber P, Krylova T, Repina S, Demina N, Rudenskaya G, Sharkova I, Sharkov A, Kadyshev V, Kanivets I, Korostelev S, Pomerantseva E, Kaimonov V, Mikhailova S, Zakharova E, Skoblov M
Parkinsonism Relat Disord 2021 Mar;84:98-104. Epub 2021 Feb 9 doi: 10.1016/j.parkreldis.2021.02.002. PMID: 33607528
Garcia-Cazorla À, Mochel F, Lamari F, Saudubray JM
J Inherit Metab Dis 2015 Jan;38(1):19-40. Epub 2014 Nov 21 doi: 10.1007/s10545-014-9776-6. PMID: 25413954
van der Veen RL, Fuijkschot J, Willemsen MA, Cruysberg JR, Berendschot TT, Theelen T
Ophthalmology 2010 May;117(5):966-71. Epub 2010 Feb 16 doi: 10.1016/j.ophtha.2009.10.019. PMID: 20163870
Frisch IB, Haag P, Steffen H, Weber BH, Holz FG
Ophthalmology 2002 Aug;109(8):1484-91. doi: 10.1016/s0161-6420(02)01110-7. PMID: 12153800

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