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Autosomal recessive isolated ectopia lentis

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Autosomal recessive isolated ectopia lentis
Other namesEctopia lentis, isolated autosomal recessive.[1]
SpecialtyMedical genetics, optometry
SymptomsEctopia lentis with no other eye abnormalities (necessarily)
TypesThis is a subtype of isolated ectopia lentis, the other type is autosomal dominant isolated ectopia lentis.
CausesGenetic mutation
Risk factorsBeing part of a consanguineous family.
PreventionNone
PrognosisMedium
Frequencyrare, about 62 cases from 10–20 families worldwide have been described in medical literature
Deaths–

Autosomal recessive isolated ectopia lentis is a rare hereditary disorder which is characterized by ectopia lentis (that is; a condition that displaces the position of the eye's lens)[2] that is present in both eyes with no other significant abnormalities.[3] It is caused by mutations in the ADAMTSL4 gene, located in chromosome 1. These mutations are inherited in an autosomal recessive manner.[4][5]

According to OMIM,[6] approximately 62 cases from 10 to 20 families in the Middle East, Western Asia, and Europe have been described in medical literature.

Although no other ocular abnormalities are present in isolated ectopia lentis, the EL itself can lead to other ocular complications directly or indirectly related to it, such as myopia, astigmatism, hyperopia, cataract, glaucoma, and retinal detachment, which may lead to visual impairment (difficulties with vision) or even total blindness.[7][8]

References

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  1. ^ Roberts, Sean. "Ectopia lentis, isolated autosomal recessive". Archived from the original on 13 May 2022. Retrieved 18 July 2022.
  2. ^ "Ectopia Lentis – EyeWiki". eyewiki.aao.org. Archived from the original on 1 February 2022. Retrieved 18 July 2022.
  3. ^ "Ectopia lentis, isolated autosomal recessive – About the Disease – Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on 2 August 2021. Retrieved 18 July 2022.
  4. ^ Ahram, Dina; Sato, T. Shawn; Kohilan, Abdulghani; Tayeh, Marwan; Chen, Shan; Leal, Suzanne; Al-Salem, Mahmoud; El-Shanti, Hatem (13 February 2009). "A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis". The American Journal of Human Genetics. 84 (2): 274–278. doi:10.1016/j.ajhg.2009.01.007. ISSN 0002-9297. PMC 2668005. PMID 19200529.
  5. ^ Chandra, Aman; Aragon-Martin, Jose A.; Hughes, Kathryn; Gati, Sabiha; Reddy, M. Ashwin; Deshpande, Charu; Cormack, Graham; Child, Anne H.; Charteris, David G.; Arno, Gavin (24 July 2012). "A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis". Investigative Ophthalmology & Visual Science. 53 (8): 4889–4896. doi:10.1167/iovs.12-9874. ISSN 1552-5783. PMID 22736615. Archived from the original on 17 June 2022. Retrieved 18 July 2022.
  6. ^ "Entry – #225100 – ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2 – OMIM". omim.org. Archived from the original on 21 January 2022. Retrieved 18 July 2022.
  7. ^ "Isolated ectopia lentis: MedlinePlus Genetics". medlineplus.gov. Archived from the original on 21 January 2022. Retrieved 18 July 2022.
  8. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Isolated ectopia lentis". www.orpha.net. Archived from the original on 14 June 2022. Retrieved 18 July 2022.{{cite web}}: CS1 maint: numeric names: authors list (link)
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