期刊： OPHTHALMIC GENETICS, 2022; 43 (1)
Background Familial exudative vitreoretinopathy (FEVR) is a rare retinal disorder characterised by incomplete retinal vascular development. Symptoms v......
期刊： OPHTHALMIC GENETICS, 2022; 43 (2)
Background Donnai Barrow Syndrome (DBS) is a rare, multi-system autosomal recessively inherited disorder of relevance to ophthalmologists. To aim to d......
期刊： OPHTHALMIC GENETICS, 2022; 43 (2)
Background Congenital cataracts are the most common cause of visual impairment worldwide. Inherited cataract is a clinically and genetically heterogen......
期刊： OPHTHALMIC GENETICS, 2022; 43 (2)
Purpose To report on two rare and one novel TULP1 pathogenic variants in two patients associated with a previously uncharacterized phenotype of retina......
期刊： OPHTHALMIC GENETICS, 2022; 43 (5)
Background X-linked retinitis pigmentosa (XLRP) is a rare inherited retinal disease predominantly affecting males. Materials and methods A comprehensi......
期刊： OPHTHALMIC GENETICS, 2022; 43 (1)
Background Retinoblastoma (RB) is an intraocular childhood cancer develops due to inactivation of RB1 gene. Identification of RB1 genetic variants, co......
期刊： OPHTHALMIC GENETICS, 2022; 43 (2)
Peripherin-2 (PRPH2) gene variants are a well-established cause of multiple inherited maculopathies including central areolar choroidal dystrophy (CAC......
期刊： OPHTHALMIC GENETICS, 2022; 43 (2)
Purpose To investigate the penetrance of MYOC gene mutation in primary open-angle glaucoma (POAG) through systematic review and meta-analysis. To expl......
期刊： OPHTHALMIC GENETICS, 2022; 43 (3)
Background Variants in RCBTB1 were recently described to cause a retinal dystrophy with only eight families described to date and a predominant phenot......
期刊： OPHTHALMIC GENETICS, 2022; 43 (3)
Background Knobloch syndrome results from recessive mutations in COL18A1 and is characterized by retinopathy and occipital scalp, brain and skull defe......
期刊： OPHTHALMIC GENETICS, 2022; 43 (1)
Purpose Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS) is a rare syndrome that to date has only been reported in Sau......
期刊： OPHTHALMIC GENETICS, 2022; 43 (3)
Leber congenital amaurosis (LCA), although rare, is one of the most severe forms of early-onset inherited retinal dystrophy (IRD). Here, we review the......
期刊： OPHTHALMIC GENETICS, 2022; 43 (4)
Background Uveal melanoma (UM) and conjunctival melanoma (CM) are distinct entities with different etiologies and genetic background. We present a cas......
