OPHTHALMIC GENETICS

Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome

Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations

Estrogen receptor gene polymorphisms and their influence on clinical status of Caucasian patients with primary open angle glaucoma

Sjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype

MFSD8 gene mutations; evidence for phenotypic heterogeneity

Coquille d’oeuf in young patients affected with Pseudoxantoma elasticum

Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variant

Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child

A recurrent arcuate retinopathy in familial cone-rod dystrophy secondary to heterozygous CRX deletion

Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation

Association study of high-frequency variants of MTHFR gene with retinal vein occlusion in a Spanish population

Multimodal retinal imaging of familial amyloid polyneuropathy

Evidence of retinal degeneration in Wolfram syndrome

Horizontal gaze palsy and progressive scoliosis with two novel ROBO3 gene mutations in two Jordanian families

Association of polymorphism rs11656696 in GAS7 with primary open-Angle Glaucoma in a Chinese Population

Ocular abnormalities in a patient with congenital disorder of glycosylation type Ig

Efficacy of topical brinzolamide in children with retinal dystrophies

Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene

Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review

Enhanced expression of son of sevenless homolog 1 is predictive of poor prognosis in uveal malignant melanoma patients

Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy

A novel causative mutation for congenital cataract and its underlying pathogenesis

Ophthalmologic findings in the Cornelia de Lange syndrome

Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy

Extreme myopia in a family with a missense PAX6 mutation: extended phenotype

Optic neuropathy in classical methylmalonic acidemia

Participant perspectives on a phase I/II ocular gene therapy trial (NCT02077361)

Retinal venous tortuosity in a woman hemizygous for MBTPS2 mutation

Bull’s eye maculopathy caused by a novel IMPG-1 mutation

Estimation of heritability and familial correlation in myopia is not affected by past sun exposure

Clinical and genetic characteristics of nevus of Ota with choroidal melanoma in Chinese

Comment: A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype

Protective association of A-T-T haplotype of DMT1 gene against risk of human age-related nuclear cataract

Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness

Aseptic pediatric orbital cellulitis: retinoblastoma until otherwise proven

Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene

PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy

The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia

Paradoxical response to carbonic anhydrase inhibitors in patients with intraretinal cystoid spaces

Multimodal imaging of benign yellow dot maculopathy

Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness

A case of ocular cystinosis associated with two potentially severe CTNS mutations

Unilateral retinoblastoma in a patient with Hermansky-Pudlak syndrome

Comment: Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy

Retinal dystrophy associated with a Kizuna (KIZ) mutation and a predominantly macular phenotype

Association of genetic variants at MYP10 and MYP15 with high myopia in a Han Chinese population

Increased microvascular disease in X-linked and autosomal recessive Alport syndrome: a case control cross sectional observational study