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	[[File:Autosomal_recessive_-_en.svg\|~~thumb~~\|~~Autosomal_recessive_-_en.svg~~]] '''Autosomal recessive isolated ectopia lentis''' is a rare [[genetic disorder]] characterized by the dislocation or displacement of the [[eye]]'s [[lens (anatomy)\|lens]] without the presence of other systemic abnormalities. This condition is inherited in an [[autosomal recessive]] manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.		{{SI}}
			{{Infobox medical condition
			\| name = Autosomal recessive isolated ectopia lentis
			\| image = [[File:Autosomal_recessive_-_en.svg\|200px]]
			\| caption = Autosomal recessive pattern
			\| field = [[Ophthalmology]]
			\| symptoms = [[Lens dislocation]], [[vision problems]]
			\| complications = [[Glaucoma]], [[retinal detachment]]
			\| onset = [[Childhood]]
			\| duration = [[Lifelong]]
			\| causes = [[Genetic mutation]] in the [[ADAMTSL4]] gene
			\| risks = Family history of the condition
			\| diagnosis = [[Genetic testing]], [[eye examination]]
			\| differential = [[Marfan syndrome]], [[Homocystinuria]]
			\| treatment = [[Corrective lenses]], [[surgery]]
			\| prognosis = Variable, depending on severity and treatment
			\| frequency = Rare
			}}
			'''Autosomal recessive isolated ectopia lentis''' is a rare [[genetic disorder]] characterized by the dislocation or displacement of the [[eye]]'s [[lens (anatomy)\|lens]] without the presence of other systemic abnormalities. This condition is inherited in an [[autosomal recessive]] manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.
	==Genetics==		==Genetics==
	The condition is caused by mutations in the [[ADAMTSL4]] gene, which provides instructions for making a protein that is involved in the formation and maintenance of the [[extracellular matrix]]. The extracellular matrix is a network of proteins and other molecules that provides structural and biochemical support to surrounding cells. Mutations in the ADAMTSL4 gene disrupt the normal function of this protein, leading to the weakening of the fibers that hold the lens in place.		The condition is caused by mutations in the [[ADAMTSL4]] gene, which provides instructions for making a protein that is involved in the formation and maintenance of the [[extracellular matrix]]. The extracellular matrix is a network of proteins and other molecules that provides structural and biochemical support to surrounding cells. Mutations in the ADAMTSL4 gene disrupt the normal function of this protein, leading to the weakening of the fibers that hold the lens in place.

	==Symptoms==		==Symptoms==
	The primary symptom of autosomal recessive isolated ectopia lentis is the dislocation of the lens, which can lead to [[visual impairment]]. The lens may shift in any direction, causing [[myopia]], [[hyperopia]], or [[astigmatism]]. Other symptoms may include [[glaucoma]] and [[cataracts]], which can further impair vision.		The primary symptom of autosomal recessive isolated ectopia lentis is the dislocation of the lens, which can lead to [[visual impairment]]. The lens may shift in any direction, causing [[myopia]], [[hyperopia]], or [[astigmatism]]. Other symptoms may include [[glaucoma]] and [[cataracts]], which can further impair vision.

	==Diagnosis==		==Diagnosis==
	Diagnosis of autosomal recessive isolated ectopia lentis is typically made through a combination of clinical examination and genetic testing. An [[ophthalmologist]] may observe the dislocation of the lens during an eye examination. Genetic testing can confirm the diagnosis by identifying mutations in the ADAMTSL4 gene.		Diagnosis of autosomal recessive isolated ectopia lentis is typically made through a combination of clinical examination and genetic testing. An [[ophthalmologist]] may observe the dislocation of the lens during an eye examination. Genetic testing can confirm the diagnosis by identifying mutations in the ADAMTSL4 gene.

	==Treatment==		==Treatment==
	Treatment for autosomal recessive isolated ectopia lentis focuses on managing the symptoms and improving vision. This may include the use of corrective lenses, such as [[glasses]] or [[contact lenses]], to address refractive errors. In some cases, [[surgery]] may be necessary to reposition the lens or to treat associated conditions like glaucoma or cataracts.		Treatment for autosomal recessive isolated ectopia lentis focuses on managing the symptoms and improving vision. This may include the use of corrective lenses, such as [[glasses]] or [[contact lenses]], to address refractive errors. In some cases, [[surgery]] may be necessary to reposition the lens or to treat associated conditions like glaucoma or cataracts.

	==Prognosis==		==Prognosis==
	The prognosis for individuals with autosomal recessive isolated ectopia lentis varies depending on the severity of the lens dislocation and the presence of associated conditions. With appropriate management and treatment, many individuals can achieve good visual outcomes.		The prognosis for individuals with autosomal recessive isolated ectopia lentis varies depending on the severity of the lens dislocation and the presence of associated conditions. With appropriate management and treatment, many individuals can achieve good visual outcomes.

	==See also==		==See also==
	* [[Ectopia lentis]]		* [[Ectopia lentis]]
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	* [[Genetic disorder]]		* [[Genetic disorder]]
	* [[Ophthalmology]]		* [[Ophthalmology]]

	==References==		==References==
	{{Reflist}}		{{Reflist}}

	[[Category:Genetic disorders]]		[[Category:Genetic disorders]]
	[[Category:Ophthalmology]]		[[Category:Ophthalmology]]
	[[Category:Autosomal recessive disorders]]		[[Category:Autosomal recessive disorders]]

	{{Genetic-disorder-stub}}		{{Genetic-disorder-stub}}

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2024-05-22T16:09:51Z

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[[File:Autosomal_recessive_-_en.svg|thumb|Autosomal_recessive_-_en.svg]] '''Autosomal recessive isolated ectopia lentis''' is a rare [[genetic disorder]] characterized by the dislocation or displacement of the [[eye]]'s [[lens (anatomy)|lens]] without the presence of other systemic abnormalities. This condition is inherited in an [[autosomal recessive]] manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

==Genetics==
The condition is caused by mutations in the [[ADAMTSL4]] gene, which provides instructions for making a protein that is involved in the formation and maintenance of the [[extracellular matrix]]. The extracellular matrix is a network of proteins and other molecules that provides structural and biochemical support to surrounding cells. Mutations in the ADAMTSL4 gene disrupt the normal function of this protein, leading to the weakening of the fibers that hold the lens in place.

==Symptoms==
The primary symptom of autosomal recessive isolated ectopia lentis is the dislocation of the lens, which can lead to [[visual impairment]]. The lens may shift in any direction, causing [[myopia]], [[hyperopia]], or [[astigmatism]]. Other symptoms may include [[glaucoma]] and [[cataracts]], which can further impair vision.

==Diagnosis==
Diagnosis of autosomal recessive isolated ectopia lentis is typically made through a combination of clinical examination and genetic testing. An [[ophthalmologist]] may observe the dislocation of the lens during an eye examination. Genetic testing can confirm the diagnosis by identifying mutations in the ADAMTSL4 gene.

==Treatment==
Treatment for autosomal recessive isolated ectopia lentis focuses on managing the symptoms and improving vision. This may include the use of corrective lenses, such as [[glasses]] or [[contact lenses]], to address refractive errors. In some cases, [[surgery]] may be necessary to reposition the lens or to treat associated conditions like glaucoma or cataracts.

==Prognosis==
The prognosis for individuals with autosomal recessive isolated ectopia lentis varies depending on the severity of the lens dislocation and the presence of associated conditions. With appropriate management and treatment, many individuals can achieve good visual outcomes.

==See also==
* [[Ectopia lentis]]
* [[Autosomal recessive disorder]]
* [[Genetic disorder]]
* [[Ophthalmology]]

==References==
{{Reflist}}

[[Category:Genetic disorders]]
[[Category:Ophthalmology]]
[[Category:Autosomal recessive disorders]]

{{Genetic-disorder-stub}}

Autosomal recessive isolated ectopia lentis - Revision history

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