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Last Updated: 10/31/2025
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Found 453 publications
A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss.
Journal: Ophthalmic genetics
Published: October 07, 2025
Progressive Cone Dystrophy and Cone-Rod Dystrophy.
Journal: Advances in experimental medicine and biology
Published: July 30, 2025
Analysis of the Body Mass Index of Latino Patients With Bardet-Biedl Syndrome.
Journal: Cureus
Published: June 25, 2025
Genetic Therapies for Retinitis Pigmentosa: Current Breakthroughs and Future Directions.
Journal: Journal of clinical medicine
Published: June 15, 2025
Longitudinal study in autosomal recessive PROM1 inherited retinal disease.
Journal: Ophthalmic genetics
Published: June 10, 2025
Characterizing Inner Retinal Changes in End-Stage Inherited Retinal Diseases That Might be Suitable for Optogenetic Therapies.
Journal: Translational vision science & technology
Published: June 02, 2025
SNRNP200- Associated Retinopathy: In-Depth Clinical Phenotyping and Genetic Characterization.
Journal: American journal of ophthalmology
Published: May 31, 2025
Rare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa.
Journal: Journal of vitreoretinal diseases
Published: May 13, 2025
Atp1b2Atp1b1 Knock-In Mice Exhibit a Cone-Rod Dystrophy-Like Phenotype.
Journal: Cells
Published: May 12, 2025
Exploring copy number variations in Lebanese families with rod-cone dystrophy reveals a novel deletion in PRPF31 with haploinsufficiency.
Journal: Ophthalmic genetics
Published: April 28, 2025
Dark Adaptometry as a Diagnostic Tool in Retinal Diseases: Mechanisms and Clinical Utility.
Journal: Journal of clinical medicine
Published: April 23, 2025
Last Updated: 10/31/2025