Last Updated: 09/26/2026
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Found 153 publications
Pathogenic Variants in HGSNAT associated with Autosomal Recessive Retinitis Pigmentosa without Overt Sanfilippo Syndrome.
Journal: Retinal cases & brief reports
Published: June 26, 2026
What does a negative genetic test mean?
Journal: Oman journal of ophthalmology
Published: June 13, 2026
Novel variant in FGFR2 in a family with anterior segment anomalies.
Journal: Ophthalmic genetics
Published: January 05, 2026
Comment on: "Ophthalmic complications associated with COVID-19: a large US national database analysis".
Journal: Eye (London, England)
Published: November 07, 2025
Glaucoma Management in Sturge-Weber Syndrome Using the Delphi Process.
Journal: Ophthalmology. Glaucoma
Published: June 03, 2025
Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology.
Journal: Orphanet journal of rare diseases
Published: April 22, 2025
Optic nerve changes in PTPN11-related Noonan syndrome.
Journal: Oman journal of ophthalmology
Published: March 28, 2025
Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.
Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.
Journal: Investigative ophthalmology & visual science
Published: February 07, 2025
Incidence and characterization of retinal findings after SARS-CoV-2 infection in children.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: February 04, 2025
Ophthalmic manifestations of Cousin syndrome.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: January 11, 2025
Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature.
Journal: Ophthalmic genetics
Published: October 15, 2024
Last Updated: 09/26/2026