AI Article Synopsis
- - Abetalipoproteinemia (ABL) is a rare genetic disorder characterized by the absence of certain lipoproteins due to a defective triglyceride transfer protein, impacting the retina and leading to vision problems, including conditions resembling retinitis pigmentosa.
- - Multimodal retinal imaging was conducted on two ABL patients, revealing significant eye changes like choroidal neovascularization and deposits in the retina, alongside a range of vision loss.
- - The study suggests that mutations in the MTTP gene within the retina may contribute to ABL-related eye diseases, highlighting the importance of ongoing eye care for affected individuals, particularly to manage treatable conditions like choroidal neovascularization.
Article Abstract
Purpose: Abetalipoproteinemia (ABL, MIM 200,100) is a rare autosomal recessive disorder caused by nonfunctional microsomal triglyceride transfer protein leading to absence of apolipoprotein B-containing lipoproteins in plasma and a retinitis pigmentosa-like fundus. The MTTP gene is expressed in retinal pigment epithelium (RPE) and ganglion cells of the human retina. Understanding ABL pathophysiology would benefit from new cellular-level clinical imaging of affected retinas.
Methods: We report multimodal retinal imaging in two patients with ABL. Case 1 (67-year-old woman) exhibited a bilateral decline of vision due to choroidal neovascularization (CNV) associated with angioid streaks and calcified Bruch membrane. Optical coherence tomography were consistent with basal laminar deposits and subretinal drusenoid deposits (SDD).
Results: Case 2 (46-year-old woman) exhibited unusual hyperpigmentation at the right fovea with count-fingers vision and a relatively unremarkable left fundus with 20/30 vision. The left eye exhibited the presence of nodular drusen and SDD and the absence of macular xanthophyll pigments.
Conclusion: We propose that mutated MTTP within the retina may contribute to ABL retinopathy in addition to systemic deficiencies of fat-soluble vitamins. This concept is supported by a new mouse model with RPE-specific MTTP deficiency and a retinal degeneration phenotype. The observed range of human pathology, including angioid streaks, underscores the need for continued monitoring in adulthood, especially for CNV, a treatable condition.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11598668 | PMC |
| http://dx.doi.org/10.1080/13816810.2024.2411290 | DOI Listing |
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