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RNA Isolation from Mouse Ocular Lens Epithelium and Fiber Cell Bulk Masses

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Genetics of ectopia lentis.

Mohammad Ali Sadiq¹, Deborah Vanderveen

¹Department of Ophthalmology, Boston Children's Hospital , Boston, Massachusetts , USA.

Seminars in Ophthalmology

|October 22, 2013

Summary

This summary is machine-generated.

Hereditary ectopia lentis, or lens subluxation, involves genetic mutations and can occur with or without systemic conditions. This review details ocular and systemic features and identified gene mutations for ectopia lentis.

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Area of Science:

Ophthalmology
Genetics
Medical Science

Background:

Hereditary ectopia lentis (lens subluxation) presents with or without systemic associations.
Genetic mutations and pathogenesis show overlap between isolated and syndromic forms of lens subluxation.

Purpose of the Study:

To describe ocular and systemic characteristics of patients with ectopia lentis.
To review identified gene mutations associated with various forms of ectopia lentis.

Main Methods:

Literature review of hereditary ectopia lentis.
Analysis of ocular and systemic findings.
Compilation of identified genetic mutations.

Main Results:

Gene mutations are identified for ectopia lentis associated with Marfan syndrome, Weill Marchesani syndrome, Ectopia Lentis simplex, Ectopia Lentis et pupillae, Ehlers Danlos syndrome, homocystinuria, and sulfite oxidase deficiency.
Significant overlap exists in genetic mutations and pathogenesis.

Conclusions:

Hereditary ectopia lentis is linked to specific genetic mutations.
Understanding these mutations aids in diagnosing and managing associated ocular and systemic conditions.