Ophthalmic Genetics

Article	Citations
Unilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl	15
Keratoconus in hereditary spastic paraplegia 15 and Kjellin syndrome: a case report	14
Honoring Professor Andreas Gal	14
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort	13
RPGRIP1 -related retinal disease presenting as isolated cone dysfunction	12
A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma	11
OCT imaging of macular cysts and treatment response with nepafenac in mucopolysaccharidosis type 1	11
Further evidence that a specific homozygous CLDN19 variant results in non-syndromic maculopathy and can be mistaken for prior ocular toxoplasmosis infection	11
ICAM-1 K469E gene polymorphism, genotype−phenotype correlation, and retinopathy in Type 2 diabetes mellitus patients	10
Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant	10
PNPLA6 disorders: what’s in a name?	9
Heme oxygenase-1 gene rs2071746 polymorphism in retinal vein occlusion	8
Positive feedback loop between vision-related anxiety and self-reported visual difficulty	8
Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature	8
Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410 , associated with selective cone degeneration	8
Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature	8
Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI	8
Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract	7
Clinical and molecular findings in children with retinitis pigmentosa	7
Compound heterozygous mutations in the USH2A gene causing non-syndromic retinitis pigmentosa	7
A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2	7
Two novel genetic associations with sector retinitis pigmentosa: USH2A and PRPF31	7
Branch retinal vein occlusion as a manifestation of systemic vasculopathy in CADASIL: a multimodal imaging case report	7
Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder	6
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
Ten things you learned in your residency about retinoblastoma that have changed the 2023 Victor T. Curtin Lecture	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
RBP4 -related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations	6
Association between vitamin D receptor polymorphisms and diabetic retinopathy in Uygur Chinese with type 2 diabetes	6
Congenital corneal staphyloma in 8q21.11 microdeletion syndrome	6
Floating-Harbor syndrome with chorioretinal colobomas	6
Foveal hypoplasia in Myhre syndrome: a novel association	6
ASPH- related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches	5
Unilateral maculopathy associated with autosomal dominant bestrophinopathy	5
A novel NR2F1 -associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome	5
Novel variant of KIF11 associated with MCLMR syndrome	5
Novel variant in FGFR2 in a family with anterior segment anomalies	5
Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association	5
Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy	5
Longitudinal study in autosomal recessive PROM1 inherited retinal disease	5
Are vitamin D receptor gene rs731236, rs2228570 and NOS3 gene rs3138808 polymorphisms associated with diabetic retinopathy?	5
The landscape of clinical trials research in inherited ophthalmic disease	5
MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone	5
Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report	5
A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family	5
Aberrant gene expression yet undiminished retinal ganglion cell genesis in iPSC-derived models of optic nerve hypoplasia	5
Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles	4
Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa	4
Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization	4
Ocular manifestations of trisomy 8 mosaicim: a rare case report	4
Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria	4
The association of five polymorphisms with diabetic retinopathy in a Chinese population	4
Compound heterozygous variants in CYP4V2 and LRTOMT coinciding in a single family: a rare case of combined	4
Female carrier of RPGR mutation presenting with high myopia	4
WDR19 -associated retinopathy presenting with adult-onset Stargardt-like phenotype	4
Biallelic occult macular dystrophy	4
Paediatric retinal dystrophy associated with ATP1A3 in a child with a background of alternating hemiplegia of childhood	4
Characterization of ARB in twins: in-trans frameshift and deep intronic BEST1 variants	4
PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature	4
Streamlining the diagnostic and management pathways of patients with retinitis pigmentosa	4
Association between the rs1800624 and rs80096349 SNPs and diabetic retinopathy: a pilot study	4
Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes	4
Phenotypic expansion of KCNJ13- associated snowflake vitreoretinal degeneration	4
Unusual fundus lesion in mosaic neurofibromatosis type 2	4
Genetic detection of a novel LRAT pathogenic variant in patients with early-onset severe retinal dystrophy	4
Machine learning demonstrates clinical utility in distinguishing retinoblastoma from pseudo retinoblastoma with RetCam images	4
A novel deletion-insertion variant of RS1 in X-linked retinoschisis	4
Novel LOXL3 -associated stickler syndrome-like phenotype: a case report	4
IDH3A -related retinal dystrophy with bilateral macular pseudocoloboma in a 2-month-old infant	3
Timely and accurate RB1 genetic testing guides familial risk stratification in heritable retinoblastoma	3
Evaluation of TGFB1 -509C>T polymorphism in primary open-angle glaucoma and primary angle-closure glaucoma in Turkish population	3
Melphalan toxicity following treatment of retinoblastoma identified by pattern electroretinogram	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

Novel, deep intronic RB1 variant exhibiting incomplete penetrance and a parent-of-origin effect	3
Haplotype-based association study of TCF7L2 gene variants with the development of diabetic retinopathy in an Iranian population	3
Molecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants	3
A homozygous NRL variant (c.339C>G; p.Try113*) underlies enhanced-S-cone syndrome in the United Arab Emirates and is associated with an electronegativ	3
Is there a predisposition to uveitis in Turner syndrome?	3
Current clinical practice and needs assessment in inherited eye diseases from the perspective of ophthalmologists	3
A de novo splice-site variant in the retinitis pigmentosa 2 ( RP2	3
Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature	3
A proposal for an updated staging system for LCHADD retinopathy	3
Usher syndrome in the United Arab Emirates	3
Lack of genetic association of non-melanoma skin cancer and pseudoexfoliative glaucoma	3
Readability, Content, and Accountability Assessment of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options	3
Novel retinal imaging findings in a pediatric patient with de novo ACTA2 R179H pathogenic variant	3
Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease	3
Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma	3
Genomic alterations in retinoblastoma tumors of Argentine patients	3
Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast Asia	3
Neuro-ophthalmic complications of endosteal hyperostosis, Worth type: the importance of ophthalmic monitoring	3
An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population	3
Occult Macular Dystrophy: a case report and major review	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
Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy	3
Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular	3
PAX6 gene promoter methylation is correlated with myopia in Chinese adolescents: a pilot sutdy	3
Identification of a novel CABP4 frameshift variant and a secondary USH2A missense variant in congenital co	3
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females	3
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1	3
Novel ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history	3
Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis	3
Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report	3
Phosphoribosyl pyrophosphate synthetase 1 ( PRPS1 ) associated retinal degeneration: an international study	3
PRPS1 -associated retinopathy: a diagnostic odyssey	3
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity	3
Anisometropia and asymmetric ABCA4-related cone-rod dystrophy	3
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism	3
Ectopia lentis associated with a 20-base deletion in the ADAMTSL4 gene in the Old Order Amish population	3
Pathogenicity reclassification of the RPE65 c.1580A>G (p.His527Arg) - a case report	3
Somatic mosaicism of a novel USH2A variant in Usher syndrome	3
Exploring copy number variations in Lebanese families with rod-cone dystrophy reveals a novel deletion in PRPF31 with haploinsufficiency	3
An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome	3
Telemedicine-based approach to caring for patients with inherited retinal diseases: patient satisfaction and diagnostic testing completion rates	3
Severe early-onset retinal and lenticular abnormalities associated with homozygous c.575T>C (p.Ile192Thr) variants in the VSX2<	2
Self-reported visual function and psychosocial impact of visual loss in EYS-associated retinal degeneration in a Portuguese population	2
Identification of novel pathogenic variants in the PHYH gene and extending the phenotypic range in Refsum disease	2
A Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesia	2
The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa	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
Alternate day vs daily topical brinzolamide for the treatment of cystic maculopathy in inherited rod cone retinal degenerations	2
Association of osteogenesis imperfecta and glaucoma: case report	2
A genotype to phenotype relationship of exudative vitreoretinopathy in Loeys–Dietz syndrome due to a pathogenic variant in TGFBR2	2
A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophy	2
Mesencephalic astrocyte-derived neurotrophic factor upregulates CHOP and ATF6 in the rat retina with retinitis pigmentosa	2
Therapeutic benefit of idebenone in Leber hereditary optic neuropathy: a systematic review and meta-analysis	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
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
Isolated aniridia caused by a novel PAX6 heterozygous deletion mediated by multi-exon complex rearrangement	2
The diagnostic value of ultra-widefield fundus imaging technology in early familial exudative vitreoretinopathy	2
A review of the genetics and clinical manifestations of Donnai-Barrow syndrome	2
Acute intraoperative subgaleal hematoma associated with vitreoretinal surgery in a patient with Ehlers-Danlos Syndrome Type VI	2
Complex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disability	2
Maternal transmission of RBP4 congenital eye disease: can Vitamin A help?	2
Comprehensive insights into circular RNAs, miRNAs, and lncRNAs as biomarkers in retinoblastoma	2
Homozygous MTHFR C667T carriers ≤45 years old develop central retinal vein occlusion five years earlier than wild type	2
Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant	2
Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia	2
Ophthalmological phenotype associated with biallelic CPAMD8 variants: first report in Mexican patients	2
Band-shaped keratopathy in HNF4A -related Fanconi syndrome: a case report and review of the literature	2
Oculo-auricular syndrome caused by a novel HMX1 frameshift variant: a case report	2
The validation of inherited retinal disease-specific patient-reported outcome measures in adolescent patients	2
A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae	2
Stem cell-based therapies for retinal diseases: focus on clinical trials and future prospects	2
Variant in EZR leads to defects in lens development	2
Cone Rod Homeobox ( CRX ): literature review and new insights	2
Revisiting molecular diagnosis in a family with retinitis pigmentosa: integrating deep phenotyping and bioinformatic analysis	2
The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1 : with reclassification of p.Val606Gly as a likely benign variant	2
The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing	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
Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome	2
Unilateral posterior subcapsular cataract and lenticonus in a girl with Bloom’s syndrome – report of a rare case	2
Childhood-onset retinal dystrophies reduces life-time income by one third - an individual based socio-economic analysis	2

Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature	2
IMPDH1 -associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search	2
Macular atrophy and focal choroidal excavation in a patient with JAG1 - related alagille syndrome	2
Congenital glaucoma associated with high hyperopia, an ophthalmic phenotypical manifestation for GLIS3 deletion: case report and review of literature	2
Multimodal imaging and electrophysiological features in bradyopsia associated with homozygous variants (c.895T>C) in Regulator of G-protein Signaling 9 ( RGS9	2
Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel NF2 mutation	2
Case of IFT140-associated Mainzer Saldino Syndrome	2
Biochemical measures of ovarian function in female survivors of retinoblastoma treated with intra-arterial melphalan: an initial report	2
An interdisciplinary Inherited Retinal Disease clinic improves time to genetic diagnosis and access to genetics services	2
Abetalipoproteinemia with angioid streaks, choroidal neovascularization, atrophy, and extracellular deposits revealed by multimodal retinal imaging	2
A family with Knobloch syndrome	2
Measuring historical variant reclassification in inherited retinal disease and its impact on clinical genetic testing	2
Novel compound heterozygous variants in SIX6 cause a PAX2 like Dysplastic Optic Disc with macular abnormalities without coexistent microph	2
Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients	1
Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa	1
Reproductive counseling and decision making in females affected by X-linked inherited retinal disease: perspectives from carriers	1
A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia	1
Association between VEGF polymorphisms and diabetic retinopathy in Thai patients with type 2 diabetes	1
CDH23 -associated Usher syndrome: genotype–phenotype correlations	1
Exploratory whole-exome sequencing identifies candidate DNA variants in Ocular Behcet disease: a pilot study from a Pakistani cohort	1
RTN4IP1 -associated non-syndromic optic neuropathy and rod-cone dystrophy	1
Correction	1
Case report: ocular manifestations of NFIX -associated Malan syndrome	1
A novel large multi-gene deletion in syndromic choroideremia	1
Refractive errors, strabismus and ocular findings in children with different types of spinal muscular atrophy	1
MERTK missense variants in three patients with retinitis pigmentosa	1
Association of variants in the ATXN2 (rs7137828), FOXC1 (rs2745572) and TXNRD2 (rs35934224) genes as risk factors for primary open-angle glaucoma development in a Brazilian cohort	1
Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy	1
Distinguishing ABCA4 from PRPH2 -related disease: qualitative analysis of examination and imaging features	1
The phenotypic spectrum of CEP250 gene variants	1
Andreas Gal the Mentor	1
ROSAH syndrome presenting with recurrent vitreous hemorrhage: a multimodal imaging study	1
Ophthalmic manifestations of MEPAN syndrome	1
Typical best vitelliform dystrophy secondary to biallelic variants in BEST1	1
Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1	1
Initial diagnoses of patients found to be homozygous for a KCNV2 founder mutation on the Arabian Peninsula (c.427G>T; p.Glu143*)	1
Multimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>G	1
Investigating motile ciliopathies in a pediatric case of an abnormal optic nerve head	1
Effects of duration and number of symptoms on vision-related anxiety in patients with Inherited Retinal Diseases	1
Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up	1
Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection	1
Retinal and optic nerve relapse in retinoblastoma secondary to epiretinal and epipapillary vitreous seeds implantation documented by optical coherence tomography	1
C1QTNF5 missense variant causing autosomal dominant gyrate atrophy-like choroidal dystrophy	1
Hereditary cataract associated with a novel variant in WFS1	1
Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome	1
Iris melanoma outcomes based on the Cancer Genome Atlas (TCGA) classification in 78 consecutive patients	1
Identification of novel genes by targeted exome sequencing in Retinoblastoma	1
Refractive errors in patients with Bardet Biedl syndrome	1
A review of the role of EFEMP1 in ophthalmic disease	1
The influence of congenital corneal opacity on ERGs obtained using an abbreviated protocol	1
Incidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging – a case report	1
Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity	1
Diagnostically challenging ligneous conjunctivitis with confirmed PLG variants: clinical and genetic insights	1
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome	1
The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China	1
High myopia and vitreal veils in a patient with Poretti– Boltshauser syndrome due to a novel homozygous LAMA1 mutation	1
Association between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataract	1
Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants	1
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy	1
Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele	1
Consolidating data on the association of IL-6 and IL-10 polymorphisms with the development of glaucoma: a meta-analysis	1
Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context	1
ROP mimicker in a big premature baby: Adams-Oliver syndrome with DOCK6 mutation: a case report and review of the literature	1
Whole-exome screening for primary congenital glaucoma in Lebanon	1
AAMR syndrome in a 22-month-old and literature review	1
Phenotype-integrated reinterpretation of laboratory-reported ABCA4 gene sequencing results improves molecular diagnostic rate in Black/non-White patients	1
Bilateral juvenile-onset cataracts associated with GCNT2 variants	1
A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review	1
Family and genetic counseling in Leber hereditary optic neuropathy	1
RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India	1
Central retinal vein occlusion in BEST1 -related angle-closure glaucoma in autosomal recessive bestrophinopathy: a case report	1
Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review	1
Bilateral plaque like macular atrophy and pigmentary retinopathy in an infant with a missense mutation in the MFF gene	1
ADAMTSL4 ectopia lentis associated with Poland syndrome: a case report	1
Short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome: report of a case lacking neutrophil morphologic changes and review of literature	1
Bilateral macular colobomata: expanded phenotype of PCARE/C2ORF71	1
Limitations of short-read NGS in detecting RP1 Alu insertions: a case emphasizing Sanger confirmation	1
Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients	1
Identification of regulatory genes associated with POAG by integrating expression and sequencing data	1
Understanding the propensity to undergo genetic testing in patients affected by inherited retinal diseases: a twelve-item questionnaire	1
Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration	1
Experiences of genetic testing among individuals with retinitis pigmentosa	1
Identification of a founder mutation in the PRPH2 gene in an isolated Pacific Island population	1
Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study	1
Compound genetic burden in oculo-facio-cardio-dental (OFCD) syndrome: surgical risk stratification with co-occurring BCOR and MYLK mutations	1
A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort	1