X-Linked Retinal Dysplasia Latest Advances

Disrupted development of the retina in the Ccdc85c knockout rat.

Journal: Veterinary pathology

Published: September 05, 2026

Maternal nutrition determines the variable expressivity of STRA6-associated eye malformations.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: August 04, 2026

Case Report: Expanding the LRP5-phenotypic spectrum of the novel c.4462A > G (p.Ser1488Gly) variant with isolated retinal involvement.

Journal: Frontiers in pediatrics

Published: June 18, 2026

Case Report: Persistent fetal vasculature associated with lenticular coloboma.

Journal: Frontiers in medicine

Published: April 23, 2026

Translational animal model for genetic predisposition to anophthalmia/microphthalmia.

Journal: Experimental eye research

Published: March 30, 2026

Retrospective evaluation of the prevalence of known and presumed hereditary eye diseases in a population of Labradoodles referred for ophthalmic screening examinations in the Netherlands.

Journal: Frontiers in veterinary science

Published: March 29, 2026

Expanding the Genotypic Spectrum of POMGNT1-Related Muscle-Eye-Brain Disease: A Case Report.

Journal: Molecular genetics & genomic medicine

Published: March 20, 2026

Comparison of Presumed Geographic Retinal Dysplasia Between a Cavalier King Charles Spaniel and a Labrador Retriever.

Journal: Clinical case reports

Published: January 05, 2026

Neonatal Purpura Fulminans: An Unusual Cause of Leukocoria, Retinal Detachment, and Vitreous Hemorrhage in Neonates.

Journal: Cureus

Published: December 27, 2025

Epilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical features.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: November 21, 2025

Dysfunctional CRPPA is responsible for recessively inherited Hereford hydrocephalus with muscular dystrophy and retinal dysplasia.

Journal: Veterinary pathology

Published: October 09, 2025

Investigating motile ciliopathies in a pediatric case of an abnormal optic nerve head.

Journal: Ophthalmic genetics

Published: September 03, 2025

X-Linked Retinal Dysplasia Latest Advances

Find the Latest Research About X-Linked Retinal Dysplasia

Disrupted development of the retina in the Ccdc85c knockout rat.

Disrupted development of the retina in the Ccdc85c knockout rat.

Maternal nutrition determines the variable expressivity of STRA6-associated eye malformations.

Maternal nutrition determines the variable expressivity of STRA6-associated eye malformations.

Case Report: Expanding the LRP5-phenotypic spectrum of the novel c.4462A > G (p.Ser1488Gly) variant with isolated retinal involvement.

Case Report: Expanding the LRP5-phenotypic spectrum of the novel c.4462A > G (p.Ser1488Gly) variant with isolated retinal involvement.

Case Report: Persistent fetal vasculature associated with lenticular coloboma.

Case Report: Persistent fetal vasculature associated with lenticular coloboma.

Translational animal model for genetic predisposition to anophthalmia/microphthalmia.

Translational animal model for genetic predisposition to anophthalmia/microphthalmia.

Retrospective evaluation of the prevalence of known and presumed hereditary eye diseases in a population of Labradoodles referred for ophthalmic screening examinations in the Netherlands.

Retrospective evaluation of the prevalence of known and presumed hereditary eye diseases in a population of Labradoodles referred for ophthalmic screening examinations in the Netherlands.

Expanding the Genotypic Spectrum of POMGNT1-Related Muscle-Eye-Brain Disease: A Case Report.

Expanding the Genotypic Spectrum of POMGNT1-Related Muscle-Eye-Brain Disease: A Case Report.

Comparison of Presumed Geographic Retinal Dysplasia Between a Cavalier King Charles Spaniel and a Labrador Retriever.

Comparison of Presumed Geographic Retinal Dysplasia Between a Cavalier King Charles Spaniel and a Labrador Retriever.

Neonatal Purpura Fulminans: An Unusual Cause of Leukocoria, Retinal Detachment, and Vitreous Hemorrhage in Neonates.

Neonatal Purpura Fulminans: An Unusual Cause of Leukocoria, Retinal Detachment, and Vitreous Hemorrhage in Neonates.

Epilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical features.

Epilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical features.

Dysfunctional CRPPA is responsible for recessively inherited Hereford hydrocephalus with muscular dystrophy and retinal dysplasia.

Dysfunctional CRPPA is responsible for recessively inherited Hereford hydrocephalus with muscular dystrophy and retinal dysplasia.

Investigating motile ciliopathies in a pediatric case of an abnormal optic nerve head.

Investigating motile ciliopathies in a pediatric case of an abnormal optic nerve head.