OOIR: Observatory of International Research

Papers

(The TQCC of Ophthalmic Genetics is 3. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2022-08-01 to 2026-08-01.)

Article	Citations
Unilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl	17
Keratoconus in hereditary spastic paraplegia 15 and Kjellin syndrome: a case report	15
Honoring Professor Andreas Gal	14
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort	11
Further evidence that a specific homozygous CLDN19 variant results in non-syndromic maculopathy and can be mistaken for prior ocular toxoplasmosis infection	11
A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma	11
Positive feedback loop between vision-related anxiety and self-reported visual difficulty	10
PNPLA6 disorders: what’s in a name?	9
ICAM-1 K469E gene polymorphism, genotype−phenotype correlation, and retinopathy in Type 2 diabetes mellitus patients	9
Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410 , associated with selective cone degeneration	8
Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder	8
RBP4 -related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations	8
Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature	8
Clinical and molecular findings in children with retinitis pigmentosa	8
Foveal hypoplasia in Myhre syndrome: a novel association	8
RPGRIP1 -related retinal disease presenting as isolated cone dysfunction	8
A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2	8
Evaluating gene–disease relationship strength in crystallin genes in association with pediatric cataracts	8
Genetic methylation in myopia	8
Branch retinal vein occlusion as a manifestation of systemic vasculopathy in CADASIL: a multimodal imaging case report	7
Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature	7
Association between vitamin D receptor polymorphisms and diabetic retinopathy in Uygur Chinese with type 2 diabetes	7
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and	7
Compound heterozygous mutations in the USH2A gene causing non-syndromic retinitis pigmentosa	6
Unilateral maculopathy associated with autosomal dominant bestrophinopathy	6

Two novel genetic associations with sector retinitis pigmentosa: USH2A and PRPF31	6
Floating-Harbor syndrome with chorioretinal colobomas	6
Congenital corneal staphyloma in 8q21.11 microdeletion syndrome	6
Ten things you learned in your residency about retinoblastoma that have changed the 2023 Victor T. Curtin Lecture	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
Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy	6
Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report	5
Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association	5
The landscape of clinical trials research in inherited ophthalmic disease	5
Novel variant of KIF11 associated with MCLMR syndrome	5
A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family	5
Novel mutation in a case of TTLL5-associated cone dystrophy with a characteristic ‘solar flare’ sign	5
Aberrant gene expression yet undiminished retinal ganglion cell genesis in iPSC-derived models of optic nerve hypoplasia	5
The association of five polymorphisms with diabetic retinopathy in a Chinese population	5
A novel NR2F1 -associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome	5
ASPH- related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches	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?	4
Paediatric retinal dystrophy associated with ATP1A3 in a child with a background of alternating hemiplegia of childhood	4
Causal associations between sex hormones and keratoconus: a two-sample Mendelian randomization study	4
Phosphoribosyl pyrophosphate synthetase 1 ( PRPS1 ) associated retinal degeneration: an international study	4
Haplotype-based association study of TCF7L2 gene variants with the development of diabetic retinopathy in an Iranian population	4
Trio exome sequencing of an optic nerve hypoplasia cohort reveals evidence for polygenic architecture	4
Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa	4
Female carrier of RPGR mutation presenting with high myopia	4
Compound heterozygous variants in CYP4V2 and LRTOMT coinciding in a single family: a rare case of combined	4
Characterization of ARB in twins: in-trans frameshift and deep intronic BEST1 variants	4
WDR19 -associated retinopathy presenting with adult-onset Stargardt-like phenotype	4
Novel variant in FGFR2 in a family with anterior segment anomalies	4
PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature	4
Genetic detection of a novel LRAT pathogenic variant in patients with early-onset severe retinal dystrophy	4
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	4
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity	4
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism	4
Biallelic occult macular dystrophy	4
Unusual fundus lesion in mosaic neurofibromatosis type 2	4
Evaluation of TGFB1 -509C>T polymorphism in primary open-angle glaucoma and primary angle-closure glaucoma in Turkish population	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
Streamlining the diagnostic and management pathways of patients with retinitis pigmentosa	4
Phenotypic expansion of KCNJ13- associated snowflake vitreoretinal degeneration	4
Ocular manifestations of trisomy 8 mosaicim: a rare case report	4
An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population	4
Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast Asia	4
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	4
Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization	4
Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes	4
Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria	4
Association between the rs1800624 and rs80096349 SNPs and diabetic retinopathy: a pilot study	4

Lack of genetic association of non-melanoma skin cancer and pseudoexfoliative glaucoma	3
PAX6 gene promoter methylation is correlated with myopia in Chinese adolescents: a pilot sutdy	3
An interdisciplinary Inherited Retinal Disease clinic improves time to genetic diagnosis and access to genetics services	3
Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature	3
Melphalan toxicity following treatment of retinoblastoma identified by pattern electroretinogram	3
Current clinical practice and needs assessment in inherited eye diseases from the perspective of ophthalmologists	3
Genomic alterations in retinoblastoma tumors of Argentine patients	3
IDH3A -related retinal dystrophy with bilateral macular pseudocoloboma in a 2-month-old infant	3
Ectopia lentis associated with a 20-base deletion in the ADAMTSL4 gene in the Old Order Amish population	3
Readability, Content, and Accountability Assessment of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options	3
Is there a predisposition to uveitis in Turner syndrome?	3
Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report	3
Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy	3
Identification of a novel CABP4 frameshift variant and a secondary USH2A missense variant in congenital co	3
Timely and accurate RB1 genetic testing guides familial risk stratification in heritable retinoblastoma	3
An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome	3
Somatic mosaicism of a novel USH2A variant in Usher syndrome	3
A family with Knobloch syndrome	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
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	3
Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma	3
Novel, deep intronic RB1 variant exhibiting incomplete penetrance and a parent-of-origin effect	3
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1	3
Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular	3
Novel ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history	3
Usher syndrome in the United Arab Emirates	3
Neuro-ophthalmic complications of endosteal hyperostosis, Worth type: the importance of ophthalmic monitoring	3
Novel retinal imaging findings in a pediatric patient with de novo ACTA2 R179H pathogenic variant	3
Exploring copy number variations in Lebanese families with rod-cone dystrophy reveals a novel deletion in PRPF31 with haploinsufficiency	3
Ora visual navigation course™ mobility test results in two individuals with CEP290 LCA after intravitreal injection of antisense oligonucleotide	3
The diagnostic value of ultra-widefield fundus imaging technology in early familial exudative vitreoretinopathy	3
A de novo splice-site variant in the retinitis pigmentosa 2 ( RP2	3
Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis	3
Telemedicine-based approach to caring for patients with inherited retinal diseases: patient satisfaction and diagnostic testing completion rates	3
Molecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants	3
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females	3
Case of IFT140-associated Mainzer Saldino Syndrome	3
Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease	3
PRPS1 -associated retinopathy: a diagnostic odyssey	3
A proposal for an updated staging system for LCHADD retinopathy	3
The validation of inherited retinal disease-specific patient-reported outcome measures in adolescent patients	3