Last Updated: 09/26/2026
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Found 26 publications
Clinical and Genetic Features in Knobloch Syndrome: A Case Series Reporting Two Previously Unreported COL18A1 Variants.
Journal: Children (Basel, Switzerland)
Published: June 15, 2026
Characterizing a Unique Retinal Phenotype in INTS11-Associated Neurodevelopmental Disorder.
Journal: Investigative ophthalmology & visual science
Published: March 11, 2026
A Unique Case of Posterior Reversible Encephalopathy Syndrome Presenting With a Cranial Nerve 3 Palsy, a Bacillary Layer Retinal Detachment, and Bilateral Serous Retinal Detachments.
Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Published: August 20, 2025
Decline of Visual Function and Risk of Legal Blindness With Age in RPGR -Associated Retinal Degeneration: A Multicenter Study.
Journal: Clinical & experimental ophthalmology
Published: May 02, 2025
Novel KIF11 Mutation Associated with Microcephaly, Chorioretinopathy and Impaired Intellectual Development: 20 Years of Follow-Up.
Journal: Children (Basel, Switzerland)
Published: March 30, 2025
Prevalence of IMPG1 and IMPG2 Mutations Leading to Retinitis Pigmentosa or Vitelliform Macular Dystrophy in a Cohort of Patients with Inherited Retinal Dystrophies.
Journal: Genes
Published: November 30, 2024
Autosomal Dominant Retinitis Pigmentosa Secondary to TOPORS Mutations: A Report of a Novel Mutation and Clinical Findings.
Journal: Journal of clinical medicine
Published: January 03, 2024
Case Series on Autosomal Recessive Non-Syndromic Retinitis Pigmentosa Caused by POMGNT1 Mutations with a Report of a New Variant.
Journal: Journal of clinical medicine
Published: November 01, 2023
Fundus Albipunctatus Associated with Biallelic LRAT Gene Mutation: A Case Report with Long-Term Follow-Up.
Journal: Journal of clinical medicine
Published: October 09, 2023
Five-Year Follow-Up of Repeated Intravitreal Bevacizumab for Macular Edema in a Pediatric Patient with Retinal Arteriovenous Malformation and Excellent Vision.
Journal: Case reports in ophthalmological medicine
Published: June 16, 2023
MULTIPLE ORGAN DYSFUNCTION SYNDROME AND DISSEMINATED INTRAVASCULAR COAGULATION CAUSING EXTENSIVE MULTIPLE AMALRIC TRIANGULAR CHOROIDAL INFARCTIONS.
Journal: Retinal cases & brief reports
Published: February 02, 2023
De Novo PAX2 Mutation With Associated Papillorenal Syndrome: A Case Report and Literature Review of Penetrance and Expressivity.
Journal: Cureus
Published: September 10, 2022
Last Updated: 09/26/2026