| Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options |
16 |
| Gene therapy for RPE65-related retinal disease |
16 |
| Gene therapy in inherited retinal degenerative diseases, a review |
11 |
| A new perspective on the genetics of keratoconus: why have we not been more successful? |
8 |
| Optical Coherence Tomography Angiography (OCT-A) in young choroideremia (CHM) patients |
6 |
| Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients |
6 |
| Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation |
6 |
| Identification of PITX3 mutations in individuals with various ocular developmental defects |
5 |
| CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family |
5 |
| Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa |
5 |
| Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome |
5 |
| Investigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil |
5 |
| A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia |
5 |
| Bevacizumab for the treatment of intraretinal cystic spaces in a patient with gyrate atrophy of the choroid and retina |
5 |
| Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort |
4 |
| The association of matrix metalloproteinases polymorphisms and interleukins in advanced age-related macular degeneration |
4 |
| Reliability of kinetic visual field testing in children with mutation-proven retinal dystrophies: Implications for therapeutic clinical trials |
4 |
| Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations |
4 |
| Structural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa |
4 |
| Does CETP rs rs70 SIRT1 rs1277 FGFR2 rs298 STAT3 rs74 VEGFA rs83 IL6 rs1800795 polymorphisms play a role in optic neuritis development? |
4 |
| Retinal miRNAs variations in a large cohort of inherited retinal disease |
4 |
| Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations |
4 |
| Macular degeneration as a common cause of visual loss in spinocerebellar ataxia type 1 (SCA1) patients |
4 |
| Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature |
3 |
| Evidence of retinal degeneration in Wolfram syndrome |
3 |
| Early posterior vitreous detachment is associated with LAMA5 dominant mutation |
3 |
| OCT-guided management of subclinical recurrent retinoblastoma |
3 |
| Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly) |
3 |
| Misdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi |
3 |
| Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? |
3 |
| Next-generation sequencing and its application in diagnosis of retinitis pigmentosa |
3 |
| Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome |
3 |
| Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation |
3 |
| Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants |
3 |
| A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract |
3 |
| Novel causative variants in patients with achromatopsia |
3 |
| Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study. |
3 |
| Sjogren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype |
3 |
| A sibling study of isolated optic neuropathy associated with novel variants in the ACO2 gene |
3 |
| Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy |
3 |
| Magnetic resonance imaging for tumor restaging after chemotherapy in retinoblastoma with optic nerve invasion |
3 |
| A novel dominant CRX mutation causes adult-onset macular dystrophy |
3 |
| Modification of the PROM1 disease phenotype by a mutation in ABCA4 |
3 |
| Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene |
3 |
| Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome |
3 |
| Dominant ARL3-related retinitis pigmentosa |
3 |
| Investigation of the effect of dietary docosahexaenoic acid (DHA) supplementation on macular function in subjects with autosomal recessive Stargardt macular dystrophy |
2 |
| Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy |
2 |
| Detection and reporting of RB1 promoter hypermethylation in diagnostic screening |
2 |
| Association of polymorphism rs11656696 in GAS7 with primary open-Angle Glaucoma in a Chinese Population |
2 |
