Ophthalmic Genetics

Article	Citations
Unilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl	12
Further evidence that a specific homozygous CLDN19 variant results in non-syndromic maculopathy and can be mistaken for prior ocular toxoplasmosis infection	12
Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy	11
An extended phenotype of RP1L1 maculopathy – case report	11
RPGRIP1 -related retinal disease presenting as isolated cone dysfunction	11
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort	10
PNPLA6 disorders: what’s in a name?	10
ICAM-1 K469E gene polymorphism, genotype−phenotype correlation, and retinopathy in Type 2 diabetes mellitus patients	10
Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development	10
Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant	10
TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases	9
Association of genetic variants in PDGFRA with high myopia in the Han population of southwestern China	9
Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI	9
A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma	8
OCT imaging of macular cysts and treatment response with nepafenac in mucopolysaccharidosis type 1	8
Keratoconus in hereditary spastic paraplegia 15 and Kjellin syndrome: a case report	7
Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract	7
Positive feedback loop between vision-related anxiety and self-reported visual difficulty	7
Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder	7
Honoring Professor Andreas Gal	7
Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410 , associated with selective cone degeneration	7
What have we learned about intraarterial chemotherapy (Ophthalmic Artery Chemosurgery) for retinoblastoma in the past 18 years? The third A. Linn Murphree Lecture	6
Genetic methylation in myopia	6
RBP4 -related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations	6
Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature	6

Clinical and molecular findings in children with retinitis pigmentosa	6
Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature	6
Association between vitamin D receptor polymorphisms and diabetic retinopathy in Uygur Chinese with type 2 diabetes	6
Foveal hypoplasia in Myhre syndrome: a novel association	6
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and	6
Ten things you learned in your residency about retinoblastoma that have changed the 2023 Victor T. Curtin Lecture	6
Floating-Harbor syndrome with chorioretinal colobomas	6
Heme oxygenase-1 gene rs2071746 polymorphism in retinal vein occlusion	6
A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2	6
De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia	5
Ocular findings in pediatric turner syndrome	5
Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report	5
The Vascular Pattern In Vicinity Of Chorioretinal Coloboma: An Optical Coherence Tomography Angiography Study	5
MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone	5
Unilateral maculopathy associated with autosomal dominant bestrophinopathy	5
Congenital corneal staphyloma in 8q21.11 microdeletion syndrome	5
Are vitamin D receptor gene rs731236, rs2228570 and NOS3 gene rs3138808 polymorphisms associated with diabetic retinopathy?	5
Novel variant of KIF11 associated with MCLMR syndrome	5
A novel NR2F1 -associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome	5
Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy	5
Novel LOXL3 -associated stickler syndrome-like phenotype: a case report	5
The landscape of clinical trials research in inherited ophthalmic disease	5
Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa	4
Female carrier of RPGR mutation presenting with high myopia	4
A novel deletion-insertion variant of RS1 in X-linked retinoschisis	4
Longitudinal study in autosomal recessive PROM1 inherited retinal disease	4
WDR19 -associated retinopathy presenting with adult-onset Stargardt-like phenotype	4
Unusual fundus lesion in mosaic neurofibromatosis type 2	4
Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria	4
Biallelic occult macular dystrophy	4
Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes	4
Machine learning demonstrates clinical utility in distinguishing retinoblastoma from pseudo retinoblastoma with RetCam images	4
Association between the rs1800624 and rs80096349 SNPs and diabetic retinopathy: a pilot study	4
The association of five polymorphisms with diabetic retinopathy in a Chinese population	4
Aberrant gene expression yet undiminished retinal ganglion cell genesis in iPSC-derived models of optic nerve hypoplasia	4
Genetic detection of a novel LRAT pathogenic variant in patients with early-onset severe retinal dystrophy	4
An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population	4
Oculoplastic surgery, diagnosis, and other matters in Freeman–Burian syndrome	4
Phenotypic expansion of KCNJ13- associated snowflake vitreoretinal degeneration	4
PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature	4
Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles	4
A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family	4
Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life	4
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism	4
Melphalan toxicity following treatment of retinoblastoma identified by pattern electroretinogram	3
Ectopia lentis associated with a 20-base deletion in the ADAMTSL4 gene in the Old Order Amish population	3
PRPS1 -associated retinopathy: a diagnostic odyssey	3
Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease	3
Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report	3
The ethnic disparity in the diagnostic yield of high-throughput next-generation sequencing in inherited retinal diseases: a systematic review and meta-analysis	3

Novel ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history	3
Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature	3
Evaluation of TGFB1 -509C>T polymorphism in primary open-angle glaucoma and primary angle-closure glaucoma in Turkish population	3
Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular	3
Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma	3
Haplotype-based association study of TCF7L2 gene variants with the development of diabetic retinopathy in an Iranian population	3
Usher syndrome in the United Arab Emirates	3
Telemedicine-based approach to caring for patients with inherited retinal diseases: patient satisfaction and diagnostic testing completion rates	3
Genomic alterations in retinoblastoma tumors of Argentine patients	3
Neuro-ophthalmic complications of endosteal hyperostosis, Worth type: the importance of ophthalmic monitoring	3
Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy	3
A case of blepharophimosis: Freeman Sheldon syndrome	3
Pathogenicity reclassification of the RPE65 c.1580A>G (p.His527Arg) - a case report	3
An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome	3
Ocular phenotype in a patient with PAX2 gene mutation-associated papillorenal syndrome	3
Current clinical practice and needs assessment in inherited eye diseases from the perspective of ophthalmologists	3
Readability, Content, and Accountability Assessment of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options	3
Unilateral lattice corneal dystrophy with c.1501C>A (p.P501T) and c.1733T>C (p.L578P) variants in the transforming growth factor-beta induced gene: a case report	3
Trio exome sequencing of an optic nerve hypoplasia cohort reveals evidence for polygenic architecture	3
Lack of genetic association of non-melanoma skin cancer and pseudoexfoliative glaucoma	3
A proposal for an updated staging system for LCHADD retinopathy	3
Occult Macular Dystrophy: a case report and major review	3
Is there a predisposition to uveitis in Turner syndrome?	3
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females	3
Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population	3
Exploring copy number variations in Lebanese families with rod-cone dystrophy reveals a novel deletion in PRPF31 with haploinsufficiency	3
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1	3
PAX6 gene promoter methylation is correlated with myopia in Chinese adolescents: a pilot sutdy	3
Phosphoribosyl pyrophosphate synthetase 1 ( PRPS1 ) associated retinal degeneration: an international study	3
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity	3
Vascular and structural analyses of retinal and choroidal alterations in Fabry disease: the effect of hyperreflective foci and retinal vascular tortuosity	3
Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome	3
Case of IFT140-associated Mainzer Saldino Syndrome	2
Macular atrophy and focal choroidal excavation in a patient with JAG1 - related alagille syndrome	2
Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report	2
KCTD1 and Scalp-Ear-Nipple (‘Finlay–Marks’) syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains	2
Novel RB1 germline mutation in a healthy man	2
Corneal involvement in a case of autosomal dominant Stargardt-like macular dystrophy (STGD3) with ELOVL4 mutation	2
Family and genetic counseling in Leber hereditary optic neuropathy	2
Congenital glaucoma associated with high hyperopia, an ophthalmic phenotypical manifestation for GLIS3 deletion: case report and review of literature	2
Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates	2
Evaluation of JUN, FN1 and LAMB1 polymorphisms in pterygium in a Chinese Han population	2
Association of osteogenesis imperfecta and glaucoma: case report	2
A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae	2
Bilateral recurrent pseudodendritic keratopathy as the initial manifestation of tyrosinemia type II	2
Biochemical measures of ovarian function in female survivors of retinoblastoma treated with intra-arterial melphalan: an initial report	2
The validation of inherited retinal disease-specific patient-reported outcome measures in adolescent patients	2
Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review	2
The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1 : with reclassification of p.Val606Gly as a likely benign variant	2
Homozygous MTHFR C667T carriers ≤45 years old develop central retinal vein occlusion five years earlier than wild type	2
Malignant teratoid intraocular ciliary body medulloepithelioma in a 5-year-old male with corresponding somatic copy number alteration profile of aqueous humor cell-free DNA	2
Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature	2
Therapeutic benefit of idebenone in Leber hereditary optic neuropathy: a systematic review and meta-analysis	2
Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel NF2 mutation	2
Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis	2
Eye and ocular adnexa manifestations of MED12-related disorders	2
Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China	2
Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia	2
Mesencephalic astrocyte-derived neurotrophic factor upregulates CHOP and ATF6 in the rat retina with retinitis pigmentosa	2
Genetics and optical coherence tomography features in a child with an achromatic retinal patch	2
RTN4IP1 -associated non-syndromic optic neuropathy and rod-cone dystrophy	2
Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis	2
Reproductive counseling and decision making in females affected by X-linked inherited retinal disease: perspectives from carriers	2
Self-reported visual function and psychosocial impact of visual loss in EYS-associated retinal degeneration in a Portuguese population	2
Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection	2
Acute intraoperative subgaleal hematoma associated with vitreoretinal surgery in a patient with Ehlers-Danlos Syndrome Type VI	2
Maternal transmission of RBP4 congenital eye disease: can Vitamin A help?	2
Bilateral retinal dystrophy and unilateral hearing loss caused by mosaic phosphoribosyl pyrophosphate synthetase 1 deficiency: expanding the spectrum of an ultrarare neurometabolic disorder	2
The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing	2
Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort	2
Stem cell-based therapies for retinal diseases: focus on clinical trials and future prospects	2
A Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesia	2
Novel compound heterozygous variants in SIX6 cause a PAX2 like Dysplastic Optic Disc with macular abnormalities without coexistent microph	2
Revisiting molecular diagnosis in a family with retinitis pigmentosa: integrating deep phenotyping and bioinformatic analysis	2
The diagnostic value of ultra-widefield fundus imaging technology in early familial exudative vitreoretinopathy	2
Genetic screening of TGFBI in Iranian patients with TGFBI-associated corneal dystrophies and a meta-analysis of global variation frequencies	2
Anisometropia and asymmetric ABCA4-related cone-rod dystrophy	2
Novel retinal finding in a patient with 4q12 deletion	2
Comprehensive insights into circular RNAs, miRNAs, and lncRNAs as biomarkers in retinoblastoma	2
Abetalipoproteinemia with angioid streaks, choroidal neovascularization, atrophy, and extracellular deposits revealed by multimodal retinal imaging	2

Complex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disability	2
Incidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging – a case report	2
The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa	2
Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele	2
Childhood-onset retinal dystrophies reduces life-time income by one third - an individual based socio-economic analysis	2
Ectopic vortex veins and varices in Donnai Barrow syndrome	2
Variant in EZR leads to defects in lens development	2
Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome	2
A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophy	2
Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant	2
Whole-exome screening for primary congenital glaucoma in Lebanon	2
IMPDH1 -associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search	2
Unilateral posterior subcapsular cataract and lenticonus in a girl with Bloom’s syndrome – report of a rare case	2
Cone Rod Homeobox ( CRX ): literature review and new insights	2
Isolated aniridia caused by a novel PAX6 heterozygous deletion mediated by multi-exon complex rearrangement	2
Novel retinal imaging findings in a pediatric patient with de novo ACTA2 R179H pathogenic variant	2
Band-shaped keratopathy in HNF4A -related Fanconi syndrome: a case report and review of the literature	2