Disease: Retinoschisis autosomal dominant
- A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypes
- A new classification of the retinoschises
- Autosomal dominant inheritance of retinoschisis
- Autosomal recessive bestrophinopathy (ARB): a clinical and molecular description of two patients at childhood
- Autosome dominant vitreoretinal dystrophy with skeletal dysplasia in one generation
- Best's disease
- Degenerative lesions of the peripheral retina
- Electrophysiological Evaluation of Macular Dystrophies
- Familial Disorders of the Optic Disc: Presentation of a Mother and Daughter and Review of the Literature
- Familial retinoschisis in female patients
- Genetics and idiopathic retinal detachment
- Gorlin's syndrome. Case report
- Intrafamilial heterogeneity of congenital optic disc pit maculopathy
- Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options
- Molecular genetics of macular degeneration
- Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes
- Multimodal Retinal Imaging Findings in Two Cousins With VCAN-Related Vitreoretinopathy or Wagner Disease
- Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndro
- Prominent Optic Disc Featured in Inherited Retinopathy
- Retinal imaging in inherited retinal diseases
- The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies