
Last Updated: 09/26/2026
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Found 27 publications
Early-onset hydroxychloroquine maculopathy: on the importance of genetic work-up.
Journal: Retinal cases & brief reports
Published: April 01, 2026
Isolated bull's eye maculopathy in two siblings with biallelic TULP1 variants.
Journal: Ophthalmic genetics
Published: March 30, 2026
Association of Autosomal Dominant Snowflake Vitreoretinal Degeneration with Retinoschisis.
Journal: Ophthalmology science
Published: January 29, 2026
RPE pseudopods maintain photoreceptor outer segment renewal despite subretinal space expansion in Adam9 knockout mice.
Journal: bioRxiv : the preprint server for biology
Published: December 25, 2025
Short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome: report of a case lacking neutrophil morphologic changes and review of literature.
Journal: Ophthalmic genetics
Published: December 03, 2025
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
Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium.
Journal: Translational vision science & technology
Published: August 27, 2025
Peripherin-2 and ROM1 Incorporate Directly Into the Rims of Enclosing Photoreceptor Discs Without Accumulating in the Nascent Disc Lamellae.
Journal: Investigative ophthalmology & visual science
Published: August 13, 2025
Optimized Minimally Invasive Transscleral Subretinal Injection Technique in Mouse.
Journal: Journal of visualized experiments : JoVE
Published: August 11, 2025
Adam9-deficient retinal pigment epithelium pseudopods maintain photoreceptor outer segment renewal despite subretinal space expansion.
Journal: The Journal of clinical investigation
Published: July 03, 2025
Ȧland Island eye disease in two patients harboring novel CACNA1F variants.
Journal: Ophthalmic genetics
Published: May 22, 2025
Last Updated: 09/26/2026