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Last Updated: 03/06/2025
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Found 418 publications
Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.
Journal: Ophthalmic genetics
Published: January 07, 2025
CBL syndrome presenting with severe EBV infection and panuveitis masquerade.
Journal: European journal of ophthalmology
Published: November 28, 2024
The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant.
Journal: Ophthalmic genetics
Published: November 18, 2024
Near-Infrared Autofluorescence: Early Detection of Retinal Pigment Epithelial Alterations in Inherited Retinal Dystrophies.
Journal: Journal of clinical medicine
Published: September 29, 2024
Acute Angle Closure Glaucoma in a Patient With Jalili-Smith Syndrome.
Journal: Cureus
Published: September 04, 2024
Dietary Supplementation for Retinitis Pigmentosa: A Report by the American Academy of Ophthalmology.
Dietary Supplementation for Retinitis Pigmentosa: A Report by the American Academy of Ophthalmology.
Journal: Ophthalmology
Published: September 03, 2024
A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.
Journal: Molecular genetics & genomic medicine
Published: August 29, 2024
Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population.
Journal: Scientific reports
Published: August 07, 2024
Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology.
Journal: American journal of ophthalmology case reports
Published: July 24, 2024
Syndromic Retinitis Pigmentosa.
Journal: Progress in retinal and eye research
Published: July 17, 2024
Last Updated: 03/06/2025