Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 02/24/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 2795 publications

Neuro-ophthalmic disorders resulting from defects in the gamma tubulin ring complex: a clinically oriented review.

Neuro-ophthalmic disorders resulting from defects in the gamma tubulin ring complex: a clinically oriented review.

Journal: Ophthalmic genetics
Published: January 21, 2026

Refractive Results and Complications of Lensectomy in Simple Extreme Microphthalmos Cases.

Refractive Results and Complications of Lensectomy in Simple Extreme Microphthalmos Cases.

Journal: Turkish journal of ophthalmology
Published: December 25, 2025

Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity.

Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity.

Journal: Cureus
Published: December 22, 2025

Identification and functional analysis of biallelic loss-of-function variants of WNT7B in a Chinese family affected with PDAC syndrome.

Identification and functional analysis of biallelic loss-of-function variants of WNT7B in a Chinese family affected with PDAC syndrome.

Journal: Gene
Published: November 28, 2025

Persistent Hyperplastic Primary Vitreous With Complete Retinal Detachment in an Infant: Imaging Characteristics and Clinical Management.

Persistent Hyperplastic Primary Vitreous With Complete Retinal Detachment in an Infant: Imaging Characteristics and Clinical Management.

Journal: Cureus
Published: November 09, 2025

Suppression of 5-HT2 receptor signaling impairs normal eye development in zebrafish.

Suppression of 5-HT2 receptor signaling impairs normal eye development in zebrafish.

Journal: Neuroscience letters
Published: October 31, 2025

NRL-associated autosomal recessive retinopathy: novel variants expanding the phenotype, natural history and a comprehensive literature search.

NRL-associated autosomal recessive retinopathy: novel variants expanding the phenotype, natural history and a comprehensive literature search.

Journal: Ophthalmic genetics
Published: October 16, 2025

Clinical phenotype and genetic analysis of a fetus with a novel mutation of OTX2 gene

Clinical phenotype and genetic analysis of a fetus with a novel mutation of OTX2 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: October 10, 2025

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.

Journal: Clinical genetics
Published: October 03, 2025

Suprachoroidal Proliferative Membrane in Uveal Effusion Syndrome with Nanophthalmos: Incidental Finding During Sclerectomy.

Suprachoroidal Proliferative Membrane in Uveal Effusion Syndrome with Nanophthalmos: Incidental Finding During Sclerectomy.

Journal: Ocular immunology and inflammation
Published: October 01, 2025

A Comprehensive Review of Congenital Eye Diseases in Pediatrics: Etiology, Diagnosis, and Management.

A Comprehensive Review of Congenital Eye Diseases in Pediatrics: Etiology, Diagnosis, and Management.

Journal: Cureus
Published: September 19, 2025

Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.

Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.

Journal: Investigative ophthalmology & visual science
Published: August 20, 2025
Showing 1-12 of 2,795

Last Updated: 02/24/2026