Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report

Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report

Abstract Background We describe the case of a 47-year-old man referred to a retinal clinic and diagnosed with late-onset retinitis pigmentosa. Surprisingly, genetic testing revealed compound heterozygous pathogenic variants in GNPTG, leading to the diagnosis of the autosomal recessive lysosomal stor...

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Bibliographic Details
Main Authors: Karl De Geer, Katarzyna Mascianica, Karin Naess, Eliane Sardh, Anna Lindstrand, Erik Björck
Format: Article
Language:English
Published: BMC 2023-09-01
Series:BMC Ophthalmology
Subjects:
Inherited retinal dystrophy
Retinitis pigmentosa
Whole genome sequencing
GNPTG
Mucolipidosis type III gamma
Lysosomal disease
Online Access:https://doi.org/10.1186/s12886-023-03136-4

Internet

https://doi.org/10.1186/s12886-023-03136-4

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