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Last Updated: 01/07/2026

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Found 459 publications

Short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome: report of a case lacking neutrophil morphologic changes and review of literature.

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

Comparing the Ability of Genetic Testing to Provide a Definitive Diagnosis in Patients with Peripheral and Macular Inherited Retinal Disease.

Comparing the Ability of Genetic Testing to Provide a Definitive Diagnosis in Patients with Peripheral and Macular Inherited Retinal Disease.

Journal: Retina (Philadelphia, Pa.)
Published: November 17, 2025

USH2A-Mutated Human Retinal Organoids Model Rod-Cone Dystrophy.

USH2A-Mutated Human Retinal Organoids Model Rod-Cone Dystrophy.

Journal: Investigative ophthalmology & visual science
Published: November 03, 2025

Clinical features of MERTK-related retinopathy.

Clinical features of MERTK-related retinopathy.

Journal: Retina (Philadelphia, Pa.)
Published: October 30, 2025

A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss.

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

A Rare Case of Hunter Syndrome (Mucopolysaccharidosis II) With Bilateral Maculopathy Associated With Rod-Cone Dystrophy.

A Rare Case of Hunter Syndrome (Mucopolysaccharidosis II) With Bilateral Maculopathy Associated With Rod-Cone Dystrophy.

Journal: Cureus
Published: September 21, 2025

Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone-Rod Dystrophies.

Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone-Rod Dystrophies.

Journal: Journal of clinical medicine
Published: September 17, 2025

Central Retinal Sensitivity Decline in RPGR-related Retinal Phenotypes.

Central Retinal Sensitivity Decline in RPGR-related Retinal Phenotypes.

Journal: American journal of ophthalmology
Published: September 10, 2025

Unveiling Inflammation-Like Retinal Remodeling in CRB1-Associated Inherited Retinal Dystrophies: Insights from a Multicenter Study.

Unveiling Inflammation-Like Retinal Remodeling in CRB1-Associated Inherited Retinal Dystrophies: Insights from a Multicenter Study.

Journal: American journal of ophthalmology
Published: August 07, 2025

Progressive Cone Dystrophy and Cone-Rod Dystrophy.

Progressive Cone Dystrophy and Cone-Rod Dystrophy.

Journal: Advances in experimental medicine and biology
Published: July 30, 2025

Bilateral Foveal Cysts in Mucopolysaccharidosis Type I (Hurler Syndrome): Response to Acetazolamide With Insights From Multimodal Retinal Imaging and Electrophysiology.

Bilateral Foveal Cysts in Mucopolysaccharidosis Type I (Hurler Syndrome): Response to Acetazolamide With Insights From Multimodal Retinal Imaging and Electrophysiology.

Journal: Case reports in ophthalmological medicine
Published: July 18, 2025

Analysis of the Body Mass Index of Latino Patients With Bardet-Biedl Syndrome.

Analysis of the Body Mass Index of Latino Patients With Bardet-Biedl Syndrome.

Journal: Cureus
Published: June 25, 2025
Showing 1-12 of 459

Last Updated: 01/07/2026