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Congenital stromal corneal dystrophy(CSCD)

MedGen UID:
400601
Concept ID:
C1864738
Disease or Syndrome
Synonym: CSCD
SNOMED CT: Decorin associated congenital stromal corneal dystrophy (702359002); Dystrophia corneae parenchymatosa congenita (702359002); Congenital stromal corneal dystrophy (702359002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): DCN (12q21.33)
 
Monarch Initiative: MONDO:0012401
OMIM®: 610048
Orphanet: ORPHA101068

Disease characteristics

Excerpted from the GeneReview: Congenital Stromal Corneal Dystrophy
Congenital stromal corneal dystrophy is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. The surface of the cornea is normal or slightly irregular; small opacities are seen throughout the stroma of the entire cornea and give the cornea a cloudy appearance. Strabismus is common. Nystagmus is uncommon. Amblyopia can develop in children. [from GeneReviews]
Authors:
Eyvind Rødahl  |  Per M Knappskog  |  Cecilie Bredrup, et. al.   view full author information

Additional descriptions

From OMIM
Congenital stromal corneal dystrophy (CSCD) is a rare autosomal dominant eye disease characterized by diffuse bilateral corneal clouding with flake-like whitish opacities throughout the stroma. These small flakes and spots are present at or shortly after birth and are thought to become more numerous with age. Some affected individuals may have strabismus or nystagmus. Normal corneal thickness, horizontal diameter, and endothelial function distinguish the condition from congenital corneal opacifications such as posterior polymorphous dystrophy (see 122000) and congenital glaucoma (see 137760). Most individuals undergo a penetrating keratoplasty in late adolescence or in early adulthood with good results (summary by Kim et al., 2011 and Jing et al., 2014).  http://www.omim.org/entry/610048
From MedlinePlus Genetics
Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, glare, and a loss of sharp vision (reduced visual acuity). Visual impairment is often associated with additional eye abnormalities, including "lazy eye" (amblyopia), eyes that do not look in the same direction (strabismus), involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia).  https://medlineplus.gov/genetics/condition/congenital-stromal-corneal-dystrophy

Clinical features

From HPO
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.
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.
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.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Corneal erosion
MedGen UID:
97882
Concept ID:
C0392163
Disease or Syndrome
An erosion or abrasion of the cornea's outermost layer of epithelial cells.
Progressive visual loss
MedGen UID:
326867
Concept ID:
C1839364
Finding
A reduction of previously attained ability to see.
Increased corneal thickness
MedGen UID:
816781
Concept ID:
C3810451
Finding
A increased anteroposterior thickness of the cornea.
Band-shaped corneal dystrophy
MedGen UID:
1002866
Concept ID:
CN323271
Finding
A type of genetically determined disease of the cornea with corneal lesions with a band-like shape.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital stromal corneal dystrophy
Follow this link to review classifications for Congenital stromal corneal dystrophy in Orphanet.

Recent clinical studies

Etiology

Gómez-Calleja V, Burgos-Blasco B, Méndez-Fernández R, Pérez-García P, Ariño-Gutiérrez M, Borrego-Sanz L, Colino Gallardo AM, Díaz-Valle D
J Fr Ophtalmol 2024 Apr;47(4):104138. Epub 2024 Mar 13 doi: 10.1016/j.jfo.2024.104138. PMID: 38484481
Naz S, Sharif S, Kaul H, Kaleem A, Tehseen A
J Pak Med Assoc 2018 Apr;68(4):663-665. PMID: 29808064

Diagnosis

Gómez-Calleja V, Burgos-Blasco B, Méndez-Fernández R, Pérez-García P, Ariño-Gutiérrez M, Borrego-Sanz L, Colino Gallardo AM, Díaz-Valle D
J Fr Ophtalmol 2024 Apr;47(4):104138. Epub 2024 Mar 13 doi: 10.1016/j.jfo.2024.104138. PMID: 38484481
Colino Gallardo AM, De la Torre Serrano M, Alarcón García L, Casado Fariñas I, De Pablo Velasco D, Martínez-Useros J, Barderas R, Fernández-Aceñero MJ
Appl Immunohistochem Mol Morphol 2023 Nov-Dec 01;31(10):682-689. Epub 2023 Sep 20 doi: 10.1097/PAI.0000000000001156. PMID: 37751235
Williams D, Chung DD, Hovakimyan A, Davtyan A, Glasgow BJ, Aldave AJ
Cornea 2023 Apr 1;42(4):464-469. Epub 2022 Dec 19 doi: 10.1097/ICO.0000000000003167. PMID: 36534610
Jing Y, Kumar PR, Zhu L, Edward DP, Tao S, Wang L, Chuck R, Zhang C
Cornea 2014 Mar;33(3):288-93. doi: 10.1097/ICO.0000000000000055. PMID: 24413633

Prognosis

Williams D, Chung DD, Hovakimyan A, Davtyan A, Glasgow BJ, Aldave AJ
Cornea 2023 Apr 1;42(4):464-469. Epub 2022 Dec 19 doi: 10.1097/ICO.0000000000003167. PMID: 36534610
Rødahl E, Van Ginderdeuren R, Knappskog PM, Bredrup C, Boman H
Am J Ophthalmol 2006 Sep;142(3):520-1. doi: 10.1016/j.ajo.2006.03.064. PMID: 16935612

Clinical prediction guides

Williams D, Chung DD, Hovakimyan A, Davtyan A, Glasgow BJ, Aldave AJ
Cornea 2023 Apr 1;42(4):464-469. Epub 2022 Dec 19 doi: 10.1097/ICO.0000000000003167. PMID: 36534610
Mellgren AE, Bruland O, Vedeler A, Saraste J, Schönheit J, Bredrup C, Knappskog PM, Rødahl E
Invest Ophthalmol Vis Sci 2015 May;56(5):2909-15. doi: 10.1167/iovs.14-16014. PMID: 26029887
Rødahl E, Van Ginderdeuren R, Knappskog PM, Bredrup C, Boman H
Am J Ophthalmol 2006 Sep;142(3):520-1. doi: 10.1016/j.ajo.2006.03.064. PMID: 16935612

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