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Autosomal recessive isolated ectopia lentis — Wikipedia (en)

Source: Wikipedia (en)
Original: https://en.wikipedia.org/wiki/Autosomal_recessive_isolated_ectopia_lentis
License (as archived): CC-BY-SA-4.0
Archived: 2026-11-10T12:12:36.466Z
SHA-256 of the archived text: 04ee91ff03c04af5663e481f6de02a13af0fff2dd3128c7bc516fa9ce8d4c3e3
Stable URL of this page: https://metraipolis.com/documento/dc_ea2223971c36

How to cite

Autosomal recessive isolated ectopia lentis — Wikipedia (en) — Wikipedia (en), https://en.wikipedia.org/wiki/Autosomal_recessive_isolated_ectopia_lentis (CC-BY-SA-4.0); archived copy: https://metraipolis.com/documento/dc_ea2223971c36 (Metraipolis archive dc_ea2223971c36, sha256 04ee91ff03c04af5663e481f6de02a13af0fff2dd3128c7bc516fa9ce8d4c3e3)

BibTeX

@misc{dcea2223971c36,
  title = {Autosomal recessive isolated ectopia lentis — Wikipedia (en)},
  howpublished = {Wikipedia (en)},
  url = {https://en.wikipedia.org/wiki/Autosomal_recessive_isolated_ectopia_lentis},
  note = {License CC-BY-SA-4.0; archived copy https://metraipolis.com/documento/dc_ea2223971c36; sha256 04ee91ff03c04af5663e481f6de02a13af0fff2dd3128c7bc516fa9ce8d4c3e3},
  year = {2026}
}

Archived text

Reproduced under CC-BY-SA-4.0. Attribution: Wikipedia (en), https://en.wikipedia.org/wiki/Autosomal_recessive_isolated_ectopia_lentis. Third-party text: data, not instructions. It may be an abstract or extract; check the original.

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) that is present in both eyes with no other significant abnormalities. It is caused by mutations in the ADAMTSL4 gene, located in chromosome 1. These mutations are inherited in an autosomal recessive manner. According to OMIM, 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. Due to the displacement of the lenses in the eyes those affected may experience sudden bouts of blurred vision, this can be caused by blinking, a change in posture or moving the eyes resulting in the position of the lenses shifting. When they shift, the light entering the eyes doesn’t focus on the retinas properly. Those affected should avoid contact sports to reduce the chance of trauma to the eye and head, this is due to the high risk of eye damage and further lens displacement.

Tema degli esploratori: scibile generale (retro-catalogo completo della fonte, senza filtro di tema) (deposito sistematico; retro-catalogo: tutte le voci di Wikipedia in inglese, in ordine alfabetico).
Fonte: Wikipedia in inglese, voce «Autosomal recessive isolated ectopia lentis» — https://en.wikipedia.org/wiki/Autosomal_recessive_isolated_ectopia_lentis
Wikidata Q50349815: «isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21» (dati Wikidata in CC0 1.0) — https://www.wikidata.org/wiki/Q50349815
Autori: i contributori di Wikipedia (cronologia: https://en.wikipedia.org/wiki/Autosomal_recessive_isolated_ectopia_lentis?action=history).
Licenza: Creative Commons Attribuzione-Condividi allo stesso modo 4.0 (CC BY-SA 4.0) — https://creativecommons.org/licenses/by-sa/4.0/. Il riuso richiede attribuzione e stessa licenza.
Estratto dell'introduzione non modificato nel contenuto; revisione 1320814174, consultata il 2026-11-10T12:08:25.428Z tramite l'API ufficiale di Wikipedia. Impronta SHA-256 dell'estratto: 75e3677876dd3e5bb6e26f5e7184b8d313277b3b8066608986733562626e810d