Ophthalmic Genetics

Article	Citations
Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia	75
KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy	24
Atypical and ultra-rare Usher syndrome: a review	20
Stargardt disease and progress in therapeutic strategies	19
Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes	19
Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases	16
A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations	14
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome	14
Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review	14
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism	13
Macula-predominant retinopathy associated with biallelic variants in RDH12	12
Content generation for patient-reported outcome measures for retinal degeneration therapeutic trials	11
Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome	11
Ocular manifestations in classic homocystinuria	10
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in theC1QTNF5gene	10
Optical coherence tomography-angiographic vascular densities in Familial Mediterranean Fever (FMF) Patients with M694V Mutations	9
Genetic disease is a common cause of bilateral childhood cataract in Denmark	9
Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa	9
Optical coherence tomography in the evaluation of retinitis pigmentosa	9
CERKL mutation causing retinitis pigmentosa(RP) in Indian population – a genotype and phenotype correlation study	9
Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy	8
Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene	8
Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome	8
Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene	7
Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1	7

Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review	7
The first gene therapy for RPE65 biallelic dystrophy with voretigene neparvovec-rzyl in Brazil	7
The relationship of retinopathy of prematurity with brain-derivated neurotrophic factor, vascular endotelial growth factor-A, endothelial PAD domain protein 1 and nitric oxide synthase 3 gene polymorp	7
Association of relative leukocyte telomere length and genetic variants in telomere-related genes (TERT, TERT-CLPTM1, TRF1, TNKS2, TRF2) with atrophic age-related macular degeneration	7
Living with Stargardt disease: insights from patients and their parents	7
Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model	7
The presence and progression of choroidal neurofibromas in a predominantly pediatric population with neurofibromatosis type-1	7
Retinoschisis associated with Kearns-Sayre syndrome	7
A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris	7
Programmed screening for retinoblastoma enhances early diagnosis and improves management outcome for high-risk children	6
Experiences of genetic testing among individuals with retinitis pigmentosa	6
A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia	6
A novel variant in TGFBI causes keratoconus in a two-generation Chinese family	6
Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism	6
Oliver McFarlane syndrome: two new cases and a review of the literature	6
Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report	6
Heterozygous CRX R90W mutation-associated adult-onset macular dystrophy with phenotype analogous to benign concentric annular macular dystrophy	6
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China	6
A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia	6
The haplotype of the CDKN2B-AS1 gene is associated with primary open-angle glaucoma and pseudoexfoliation glaucoma in the Caucasian population of Central Russia	5
Oliver McFarlane syndrome and choroidal neovascularisation: a case report	5
Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy	5
MYCN amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification	5
Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy	5
Living with type I Usher syndrome: insights from patients and their parents	5
The evolving role of genetics in ophthalmology	5
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy	5
Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins	5
Unrecognized ROPER in a child with a novel pathogenic variant in ZNF408 gene	5
A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome	5
A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region	5
Inherited retinal degeneration current genetics practices – a needs assessment	5
Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome	5
Bioinformatics analysis of GNAQ, GNA11, BAP1, SF3B1,SRSF2, EIF1AX, PLCB4, and CYSLTR2 genes and their role in the pathogenesis of Uveal Melanoma	5
Secondary enucleated retinoblastoma with MYCN amplification	5
High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation	5
Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry	5
A de novo mutation inPITX2underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy	5
A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome	5
Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH	5
Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1)	5
A homozygous POC1B variant causes recessive cone-rod dystrophy	5
Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome	5
Novel homozygous mutation of plasminogen in ligneous conjunctivitis: a case report and literature review	5
Exome sequencing identification of susceptibility genes in Chinese patients with keratoconus	5
RDH12 retinopathy: clinical features, biology, genetics and future directions	5
A novel variant in DOCK6 gene associated with Adams–Oliver syndrome type 2	4
Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development	4
Cataract in You-Hoover-Fong syndrome: TELO2 deficiency	4
Peripheral pigmented lesions in ABCA4-associated retinopathy	4

A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family	4
KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3	4
CRISPR Cas9 based genome editing in inherited retinal dystrophies	4
Clinical and genetic study on two Chinese families with Wagner vitreoretinopathy	4
Childhood-onset retinal dystrophies reduces life-time income by one third - an individual based socio-economic analysis	4
Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome	4
Ocular findings of albinism in DYRK1A-related intellectual disability syndrome	4
Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up	4
Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients	4
Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR)	4
Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism	4
Multimodal imaging of an RPGR carrier female	4
Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy	4
Mosaic cat eye syndrome in a child with unilateral iris coloboma	4
Treatment and longitudinal follow-up of CNV associated with pattern dystrophy with novel PRPH2 variant	4
TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases	4
Novel compound heterozygous pathogenicBBS5variants in Filipino siblings with Bardet-Biedl syndrome (BBS)	4
Mitochondrial DNA A3243G variant-associated retinopathy: a meta-analysis of the clinical course of visual acuity and correlation with systemic manifestations	4
Associations between IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, and HTRA1 rs11200638 gene polymorphisms and development of optic neuritis with or without multiple sclerosis	4
Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings	4
Cell Free DNA (cfDNA) in the Blood of Retinoblastoma Patients The Robert M. Ellsworth Lecture	4
De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia	4
Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome	4
Evaluation of the association between five genetic variants and primary open-angle glaucoma in a Han Chinese population	4
Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome	3
A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome	3
Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation	3
A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature	3
Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort	3
A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female	3
Macular atrophy in JAG1-related Alagille syndrome: a case series	3
Portuguese translation and linguistic validation of the Michigan Retinal Degeneration Questionnaire and the Michigan Vision-Related Anxiety Questionnaire in a cohort with inherited retinal degeneratio	3
Corneal curvature-associated MTOR variant differentiates mild myopia from high myopia in Han Chinese population	3
Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation	3
A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred	3
An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome	3
NYX-related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism	3
Senior-Løken syndrome and intracranial hypertension	3
Long-term follow-up of adult patient with neurofibromatosis type 1 with retinal astrocytic hamartoma using spectral-domain optical coherence tomography: a review of the literature and a report of a ca	3
The role of motor proteins in photoreceptor protein transport and visual function	3
Extensive rod and cone photoreceptor-cell degeneration in rat models of giant axonal neuropathy: implications for gene therapy of human disease	3
Association between diabetic retinopathy and interleukin-related gene polymorphisms: a machine learning aided meta-analysis	3
Association of combined complement factor H Y402H and ARMS2/LOC387715 A69S polymorphisms with age-related macular degeneration: an updated meta-analysis	3
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	3
Readability, Content, and Accountability Assessment of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options	3
A new heterozygous mutation in the stop codon of CRYAB (p.X176Y) is liable for congenital posterior pole cataract in a Chinese family.	3
Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature	3
The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa	3
Intermittent exotropia – a potential confounding factor for full-field electroretinography	3
Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet’s disease susceptibility and clinical manifestations	3
MERTK retinopathy: biomarkers assessing vision loss	3
Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies	3
Management of a case of Enhanced S-cone syndrome with massive foveoschisis treated with pars plana vitrectomy with silicone oil tamponade	3
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity	3
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy	3
Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst	3
Retinoblastoma and uveal melanoma in Jordan: incidence, demographics, and survival (2011-2020)	3
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome	3
Prevalence of RPGR-mutated X-linked retinitis pigmentosa among males	3
IL1A and IL1B gene polymorphisms and keratoconus susceptibility: evidence from an updated meta-analysis	3
Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing	3
Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts	3
Juvenile cataract in association with tuberous sclerosis complex	2
Clinical trial design for neuroprotection in RHO autosomal dominant retinitis pigmentosa; outcome measure considerations	2
Association of transcription factor 7-like 2 (rs7903146) gene polymorphism with diabetic retinopathy	2
Association study of toll-like receptors 4 polymorphisms and the risk of age-related macular degeneration: a meta-analysis	2
Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy	2
Visual and ocular findings in a family with X-linked cone dysfunction and protanopia	2
A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy	2
Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family	2
Association of RAGE rs1800624 and rs1800625 gene polymorphisms with predisposition to optic neuritis and optic neuritis together with multiple sclerosis	2
Lessons learned from research on choroideremia	2
Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene	2
Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles	2
Clinical and molecular findings in patients with pattern dystrophy	2
“Association of APOE gene polymorphisms with primary open angle glaucoma in Brazilian patients”	2
Calculation of test-retest variability in phase I/IIa clinical trials for Inherited Retinal Degenerations	2
Optimizing the storage of chemotherapeutics for ophthalmic oncology: stability of topotecan solution for intravitreal injection	2
Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy	2
RB1 germline mutation spectrum and clinical features in patients with unilateral retinoblastomas	2

Hickam’s Dictum: Pseudoxanthoma elasticum and Usher syndrome in a single patient	2
MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone	2
Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene	2
Assessment of CFH and HTRA1 polymorphisms in age-related macular degeneration using classic and machine-learning approaches	2
Association of VEGFA promoter polymorphisms rs699947 and rs35569394 with diabetic retinopathy among North-Central Indian subjects: a case-control study	2
A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response	2
Associations of TLR4 and IL-8 genes polymorphisms with age-related macular degeneration (AMD): a systematic review and meta-analysis	2
A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes	2
Ocular findings in pediatric turner syndrome	2
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism	2
Relationship between Fitzpatrick Skin Type and The Cancer Genome Atlas Classification with Melanoma-Related Metastasis and Death in 854 Patients at a Single Ocular Oncology Center	2
Driving with retinitis pigmentosa	2
Poretti-Boltshauser syndrome: a rare differential diagnosis to consider in pediatric high myopia with retinal degeneration	2
Inherited retinal dystrophies in a Kuwaiti tribe	2
Polymorphism analysis of ADIPOQ gene in Greek patients with diabetic retinopathy	2
Genomic analysis of adult case of ocular surface giant congenital melanocytic nevus and associated clinicopathological findings	2
Photoaversion in inherited retinal diseases: clinical phenotypes, biological basis, and qualitative and quantitative assessment	2
Pathogenic gene variants identified in patients with retinitis pigmentosa at the referral center clinic of the University of Minnesota (UMN)	2
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis	2
GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism	2
The association of OPG polymorphisms with diabetic retinopathy in Chinese population	2
Nevoid basal cell carcinoma syndrome: a case report and literature review	2
SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family	2
Screening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing	2
Tumor necrosis factor (TNF)-308, -1031, and angiotensin-converting enzyme (ACE) DD/II polymorphisms’ role in Behcet’s disease with and without uveitis: a meta-analysis	2
Cascade of interactions between candidate genes reveals convergent mechanisms in keratoconus disease pathogenesis	2
Coats plus in prematurity	2
Compound heterozygous mutations in the SLC4A11 gene associated with congenital hereditary endothelial dystrophy in a Chinese family	2
Prevalence of ocular anomalies is increased in women with polycystic ovary syndrome—exploration of association with PAX6 genotype	2
Evaluation of myopia-associated genes in a Han Chinese population with high myopia	2
CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency	2
A typical anterior retinoblastoma: diagnosis by aqueous humor cell-free DNA analysis	2
OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion	2
Expanding the mutational spectrum of FHONDA syndrome	2
Pseudoxanthoma elasticum and retinitis pigmentosa: dual diagnosis of recessive conditions with ophthalmological consequences	2
Bilateral phototherapeutic keratectomy for corneal macular dystrophy in an adolescent: case report and review of the literature	2
Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma	2
Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome	2
RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations	2
Heterozygous structural variation mimicking homozygous missense mutations in NEU1 associated with presenting clinical signs in eyes alone	2
An extended phenotype of RP1L1 maculopathy – case report	2
First report of tethered cord syndrome in a patient with Verheij syndrome	2
Two novel PDE6C gene mutations in Chinese family with achromatopsia	2
Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling	2
A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome	2
Severe retinal degeneration in a patient with Canavan disease	2
Retinal dystrophy as part of TTC21B-associated ciliopathy	2
Retinopathy and optic atrophy in a case of COQ2 -related primary coenzyme Q 10 deficiency	2
Long term ophthalmic complications of distal arthrogryposis type 5D	2
Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene	2
Mutations of TOPORS identified in families with retinitis pigmentosa	2
A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing	2
Co-occurrence of incontinentia pigmenti and down syndrome: examining patients’ potential susceptibility to autoimmune disease, autoinflammatory disease, cancer, and significant ocular disease	2
Wolfram syndrome with vitelliform retinal deposits	1
Heterozygote MTHFR A1298C mutation in a case of autosomal recessive bestrophinopathy with branch retinal vein occlusion	1
Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review	1
Corneal ectasia associated with posterior lamellar opacification	1
Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients	1
Association of genetic variants in PDGFRA with high myopia in the Han population of southwestern China	1
A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1	1
Novel RB1 germline mutation in a healthy man	1
Ectopic vortex veins and varices in Donnai Barrow syndrome	1
RPGRIP1 -related retinal disease presenting as isolated cone dysfunction	1
Typical best vitelliform dystrophy secondary to biallelic variants in BEST1	1
Bilateral atypical lamellar holes in a patient with oculocutaneous albinism	1
Understanding the propensity to undergo genetic testing in patients affected by inherited retinal diseases: a twelve-item questionnaire	1
Anterior segment optical coherence tomography, in vivo confocal microscopy, histopathologic, and immunohistochemical findings in a patient with multiple endocrine neoplasia type 2b	1
Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy	1
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus	1
PNPLA6 disorders: what’s in a name?	1
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort	1
Albinism and a mitochondrial DNA deletion	1
Variability of retinopathy consequent upon novel mutations in LAMA1	1
Missense mutation in the PAX6 gene can cause a complex mild variable phenotype predominated by concomitant strabismus	1
Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant	1
Association between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataract	1
Unilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl	1
Effects of duration and number of symptoms on vision-related anxiety in patients with Inherited Retinal Diseases	1
Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic CRB1 single nucleotide variant	1
Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females	1
Vascular and structural analyses of retinal and choroidal alterations in Fabry disease: the effect of hyperreflective foci and retinal vascular tortuosity	1
Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3	1
Torpedo-like lesions in the ocular fundi of Gardner syndrome: hiding in plain view	1
Pathogenicity reclassification of the RPE65 c.1580A>G (p.His527Arg) - a case report	1
Development of neovascular glaucoma after intraocular surgery in Pierson syndrome	1
A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants	1
Association of VEGFA, TIMP-3, and IL-6 gene polymorphisms with predisposition to optic neuritis and optic neuritis with multiple sclerosis	1
AAMR syndrome in a 22-month-old and literature review	1
A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas	1
Is RPGR-related retinal dystrophy associated with systemic disease? A case series	1
Optical coherence tomography angiography cyclic remodeling of CNV in patients affected by Best macular dystrophy	1
Ten things you learned in your residency about retinoblastoma that have changed the 2023 Victor T. Curtin Lecture	1
Adult-onset bestrophinopathy mistaken as central serous chorioretinopathy	1
Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract	1
Molecular analysis confirms retinoblastoma diagnosis in a histologically undifferentiated retinal tumor in an adult	1