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Lisch epithelial corneal dystrophy(LECD)

MedGen UID:
411737
Concept ID:
C2749050
Disease or Syndrome
Synonyms: BAND-SHAPED AND WHORLED MICROCYSTIC CORNEAL EPITHELIAL DYSTROPHY; LECD
SNOMED CT: Lisch epithelial corneal dystrophy (724175002); Band-shaped and whorled microcystic dystrophy of corneal epithelium (724175002)
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
 
Gene (location): MCOLN1 (19p13.2)
 
Monarch Initiative: MONDO:0010425
OMIM®: 620763
Orphanet: ORPHA98955

Definition

Lisch epithelial corneal dystrophy (LECD) is characterized by corneal bands of whorled, feathery, gray opacities of varying widths. The opaque bands consist of clear, densely crowded, intraepithelial blisters. Vision may be impaired if the bands involve the central cornea (Lisch et al., 1992; Lisch et al., 2000). Reviews Lisch and Weiss (2019) provided a clinical and genetic update of the corneal dystrophies. They noted that LECD shows slow progression, and may result in blurred vision if the pupillary axis is involved. Indirect illumination focusing on the corneal epithelium reveals crowded clear microcysts, which are the clinical hallmark of LECD. [from OMIM]

Clinical features

From HPO
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  
  • CROGVLisch epithelial corneal dystrophy
Follow this link to review classifications for Lisch epithelial corneal dystrophy in Orphanet.

Recent clinical studies

Etiology

Weiss JS, Rapuano CJ, Seitz B, Busin M, Kivelä TT, Bouheraoua N, Bredrup C, Nischal KK, Chawla H, Borderie V, Kenyon KR, Kim EK, Møller HU, Munier FL, Berger T, Lisch W
Cornea 2024 Apr 1;43(4):466-527. Epub 2024 Feb 12 doi: 10.1097/ICO.0000000000003420. PMID: 38359414Free PMC Article
Patterson K, Chong JX, Chung DD, Lisch W, Karp CL, Dreisler E, Lockington D, Rohrbach JM, Garczarczyk-Asim D, Müller T, Tuft SJ, Skalicka P, Wilnai Y, Samra NN, Ibrahim A, Mandel H, Davidson AE, Liskova P, Aldave AJ, Bamshad MJ, Janecke AR
Am J Ophthalmol 2024 Feb;258:183-195. Epub 2023 Nov 14 doi: 10.1016/j.ajo.2023.10.011. PMID: 37972748

Diagnosis

Weiss JS, Rapuano CJ, Seitz B, Busin M, Kivelä TT, Bouheraoua N, Bredrup C, Nischal KK, Chawla H, Borderie V, Kenyon KR, Kim EK, Møller HU, Munier FL, Berger T, Lisch W
Cornea 2024 Apr 1;43(4):466-527. Epub 2024 Feb 12 doi: 10.1097/ICO.0000000000003420. PMID: 38359414Free PMC Article
Patterson K, Chong JX, Chung DD, Lisch W, Karp CL, Dreisler E, Lockington D, Rohrbach JM, Garczarczyk-Asim D, Müller T, Tuft SJ, Skalicka P, Wilnai Y, Samra NN, Ibrahim A, Mandel H, Davidson AE, Liskova P, Aldave AJ, Bamshad MJ, Janecke AR
Am J Ophthalmol 2024 Feb;258:183-195. Epub 2023 Nov 14 doi: 10.1016/j.ajo.2023.10.011. PMID: 37972748
Amer MM, Arze K, Galor A, Sayegh Y, Dubovy SS, Karp CL
Cornea 2023 May 1;42(5):645-647. Epub 2022 Dec 19 doi: 10.1097/ICO.0000000000003211. PMID: 36533990Free PMC Article
Salvador-Culla B, Alonso-Agesta M, Álvarez de Toledo J, Barraquer RI
Cornea 2019 Feb;38(2):243-245. doi: 10.1097/ICO.0000000000001825. PMID: 30499831
Pole C, Sise A, Joag M, Galor A, Bermudez-Magner JA, Dubovy S, Karp CL
Cornea 2016 Mar;35(3):392-4. doi: 10.1097/ICO.0000000000000722. PMID: 26764880Free PMC Article

Therapy

Amer MM, Arze K, Galor A, Sayegh Y, Dubovy SS, Karp CL
Cornea 2023 May 1;42(5):645-647. Epub 2022 Dec 19 doi: 10.1097/ICO.0000000000003211. PMID: 36533990Free PMC Article
Celis Sánchez J, Mesa Varona DV, Avendaño Cantos E, López-Romero Moraleda S, Cebrian Rosado E, González Del Valle F
Arch Soc Esp Oftalmol 2016 Jul;91(7):333-6. Epub 2016 Feb 28 doi: 10.1016/j.oftal.2016.01.029. PMID: 26928889

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