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Last Updated: 01/07/2026
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Found 2786 publications
Persistent Hyperplastic Primary Vitreous With Complete Retinal Detachment in an Infant: Imaging Characteristics and Clinical Management.
Journal: Cureus
Published: November 09, 2025
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
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: October 10, 2025
Suprachoroidal Proliferative Membrane in Uveal Effusion Syndrome with Nanophthalmos: Incidental Finding During Sclerectomy.
Journal: Ocular immunology and inflammation
Published: October 01, 2025
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
Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia.
Journal: Journal of medical genetics
Published: August 14, 2025
Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo.
Journal: Matrix biology : journal of the International Society for Matrix Biology
Published: July 29, 2025
Ultra-Widefield OCT Angiography Imaging in Pediatric Microphthalmos Using Swept-Source OCT.
Journal: Ophthalmology. Retina
Published: July 22, 2025
Fingerprint Sign in Familial Microphthalmia Linked to Membrane Frizzled-Related Protein Mutation.
Journal: Ophthalmology. Retina
Published: July 09, 2025
The hidden burden of lysosomal dysfunction: visual decline and microphthalmia in Hunter syndrome.
Journal: Arquivos de neuro-psiquiatria
Published: June 21, 2025
Last Updated: 01/07/2026