AI Article Synopsis
- - The study investigates the retinal phenotype in two siblings with new genetic variants linked to hereditary spastic paraplegia type 56 (HSP 56), which resemble type 2 macular telangiectasis (MacTel).
- - Five family members underwent extensive ophthalmic evaluations and genetic testing, revealing that the affected siblings exhibited specific retinal anomalies, including loss of retinal transparency and abnormal pigment distribution.
- - The findings suggest a potential connection between the observed retinal issues and the genetic variants, indicating a shared pathway in the development of both MacTel and the hereditary condition.
Article Abstract
Purpose: To report the retinal phenotype in 2 patients simulating type 2 macular telangiectasis with new variants in implicated in hereditary spastic paraplegia type 56 (HSP 56).
Design: Cross sectional case series study.
Participants: Five members of a non-consanguineous family (parents and 3 male children) were investigated.
Methods: All family members underwent a full ophthalmic evaluation and multimodal retinal imaging. Two family members demonstrating retinal anomalies underwent additional OCT angiography, dual wavelength autofluorescence and fluorescence lifetime imaging ophthalmoscopy, kinetic perimetry, fundus-correlated microperimetry, electroretinography, and electro-oculography. Whole-exome sequencing was performed in all 5 family members.
Main Outcome Measures: To characterize the retinal phenotype in affected patients with variants in , using multimodal imaging: dual-wavelength autofluorescence, fluorescence lifetime, OCT angiography.
Results: The 2 siblings with compound heterozygous novel variants c.452C>T; p.(Pro151Leu), c.943C>T; p.(Gln315Ter) in demonstrated parafoveal loss of retinal transparency and hyperreflectivity to blue light, redistribution of macular pigment to the parafoveal edge, photoreceptor loss, and fluorescence lifetime imaging ophthalmoscopy anomalies: a pattern compatible with that seen in macular telangiectasia type 2 (MacTel). One had manifest neurological abnormalities since early childhood; the second had no neurological abnormalities. Each parent and the third sibling were heterozygous for 1 variant and were neurologically and ophthalmically normal.
Conclusions: These variants are associated with a retinal phenotype very similar to that otherwise specific for MacTel, suggestive of possible links in the etiology and pathogenesis of these diseases.
Financial Disclosures: The author(s) have no proprietary or commercial interest in any materials discussed in this article.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11599445 | PMC |
| http://dx.doi.org/10.1016/j.xops.2024.100618 | DOI Listing |
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