Ophthalmic Genetics

Article	Citations
Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia	94
Stargardt disease and progress in therapeutic strategies	26
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome	23
Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome	14
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism	12
Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa	11
Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome	11
Genetic disease is a common cause of bilateral childhood cataract in Denmark	11
Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome	11
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in theC1QTNF5gene	10
Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review	9
Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene	9
A novel variant in TGFBI causes keratoconus in a two-generation Chinese family	9
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	8
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	8
Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome	8
Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model	8
Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1	8
Oliver McFarlane syndrome: two new cases and a review of the literature	8
The first gene therapy for RPE65 biallelic dystrophy with voretigene neparvovec-rzyl in Brazil	8
Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene	8
Living with Stargardt disease: insights from patients and their parents	8
MYCN amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification	7
Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry	7
Childhood-onset retinal dystrophies reduces life-time income by one third - an individual based socio-economic analysis	7

A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome	7
Bioinformatics analysis of GNAQ, GNA11, BAP1, SF3B1,SRSF2, EIF1AX, PLCB4, and CYSLTR2 genes and their role in the pathogenesis of Uveal Melanoma	7
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China	7
The presence and progression of choroidal neurofibromas in a predominantly pediatric population with neurofibromatosis type-1	7
Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH	7
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy	7
Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism	7
Prevalence of RPGR-mutated X-linked retinitis pigmentosa among males	6
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	6
Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome	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	6
Experiences of genetic testing among individuals with retinitis pigmentosa	6
Self-reported visual function and psychosocial impact of visual loss in EYS-associated retinal degeneration in a Portuguese population	5
Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1)	5
The role of motor proteins in photoreceptor protein transport and visual function	5
Ocular findings in pediatric turner syndrome	5
Secondary enucleated retinoblastoma with MYCN amplification	5
The evolving role of genetics in ophthalmology	5
Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins	5
RDH12 retinopathy: clinical features, biology, genetics and future directions	5
Visual and ocular findings in a family with X-linked cone dysfunction and protanopia	5
Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR)	5
A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family	5
Novel homozygous mutation of plasminogen in ligneous conjunctivitis: a case report and literature review	5
Multimodal imaging of an RPGR carrier female	5
Retinoblastoma and uveal melanoma in Jordan: incidence, demographics, and survival (2011-2020)	5
IL1A and IL1B gene polymorphisms and keratoconus susceptibility: evidence from an updated meta-analysis	5
Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report	5
A homozygous POC1B variant causes recessive cone-rod dystrophy	5
CRISPR Cas9 based genome editing in inherited retinal dystrophies	5
MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone	5
Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism	5
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	5
Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development	5
Targeted long-read sequencing allows for rapid identification of pathogenic disease-causing variants in retinoblastoma	4
Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients	4
Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation	4
Peripheral pigmented lesions in ABCA4-associated retinopathy	4
Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort	4
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity	4
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	4
Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries 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
Treatment and longitudinal follow-up of CNV associated with pattern dystrophy with novel PRPH2 variant	4
A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature	4
Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings	4
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy	4
Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy	4
Cell Free DNA (cfDNA) in the Blood of Retinoblastoma Patients The Robert M. Ellsworth Lecture	4
Mosaic cat eye syndrome in a child with unilateral iris coloboma	4

TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases	4
An extended phenotype of RP1L1 maculopathy – case report	4
GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism	4
A proposal for an updated staging system for LCHADD retinopathy	4
Mitochondrial DNA A3243G variant-associated retinopathy: a meta-analysis of the clinical course of visual acuity and correlation with systemic manifestations	4
KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3	4
De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia	4
Polymorphism analysis of ADIPOQ gene in Greek patients with diabetic retinopathy	4
Macular atrophy in JAG1-related Alagille syndrome: a case series	4
Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature	4
Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome	3
Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet’s disease susceptibility and clinical manifestations	3
Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts	3
Management of a case of Enhanced S-cone syndrome with massive foveoschisis treated with pars plana vitrectomy with silicone oil tamponade	3
Clinical trial design for neuroprotection in RHO autosomal dominant retinitis pigmentosa; outcome measure considerations	3
A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female	3
Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma	3
Association of VEGFA promoter polymorphisms rs699947 and rs35569394 with diabetic retinopathy among North-Central Indian subjects: a case-control study	3
Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation	3
Corneal curvature-associated MTOR variant differentiates mild myopia from high myopia in Han Chinese population	3
Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene	3
Retinopathy and optic atrophy in a case of COQ2 -related primary coenzyme Q 10 deficiency	3
Two siblings with GAPO syndrome: Ophthalmic presentation and histopathologic findings	3
A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome	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
Coats plus in prematurity	3
Photoaversion in inherited retinal diseases: clinical phenotypes, biological basis, and qualitative and quantitative assessment	3
Occult Macular Dystrophy: a case report and major review	3
A typical anterior retinoblastoma: diagnosis by aqueous humor cell-free DNA analysis	3
Poretti-Boltshauser syndrome: a rare differential diagnosis to consider in pediatric high myopia with retinal degeneration	3
NYX-related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism	3
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome	3
Associations of TLR4 and IL-8 genes polymorphisms with age-related macular degeneration (AMD): a systematic review and meta-analysis	3
Clinical and molecular findings in patients with pattern dystrophy	3
Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing	3
An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome	3
Melphalan toxicity following treatment of retinoblastoma identified by pattern electroretinogram	3
Multimodal imaging in Schubert-Bornschein congenital stationary night blindness	3
Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life	3
MERTK retinopathy: biomarkers assessing vision loss	3
Extensive rod and cone photoreceptor-cell degeneration in rat models of giant axonal neuropathy: implications for gene therapy of human disease	3
RPGRIP1 -related retinal disease presenting as isolated cone dysfunction	3
A novel frameshift variant inCEP78associated with nonsyndromic retinitis pigmentosa, and a review ofCEP78-related phenotypes	3
Long term ophthalmic complications of distal arthrogryposis type 5D	3
Readability, Content, and Accountability Assessment of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options	3
Investigation of genotype–phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing	3
Association of VEGFA, TIMP-3, and IL-6 gene polymorphisms with predisposition to optic neuritis and optic neuritis with multiple sclerosis	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
Effects of duration and number of symptoms on vision-related anxiety in patients with Inherited Retinal Diseases	3
The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa	3
Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles	3
“Association of APOE gene polymorphisms with primary open angle glaucoma in Brazilian patients”	3
Pathogenic gene variants identified in patients with retinitis pigmentosa at the referral center clinic of the University of Minnesota (UMN)	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
Association of RAGE rs1800624 and rs1800625 gene polymorphisms with predisposition to optic neuritis and optic neuritis together with multiple sclerosis	2
The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment	2
The association of OPG polymorphisms with diabetic retinopathy in Chinese population	2
Ectopic vortex veins and varices in Donnai Barrow syndrome	2
Iris melanoma outcomes based on the Cancer Genome Atlas (TCGA) classification in 78 consecutive patients	2
Investigation of germline VHL variants in Iranian patients with retinal capillary hemangioblastoma and genotype-phenotype analysis	2
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort	2
Congenital simple hamartoma of the retinal pigment epithelium: 4 cases with multimodal imaging	2
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis	2
Bilateral recurrent pseudodendritic keratopathy as the initial manifestation of tyrosinemia type II	2
Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI	2
Retinal dystrophy as part of TTC21B-associated ciliopathy	2
Cascade of interactions between candidate genes reveals convergent mechanisms in keratoconus disease pathogenesis	2
Screening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing	2
Expanding the mutational spectrum of FHONDA syndrome	2
Evaluation of myopia-associated genes in a Han Chinese population with high myopia	2
Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family	2
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series	2
Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series	2
Association of GSTM1, GSTT1, and GSTP1 Ile105Val polymorphisms with risk of age-related macular degeneration: a meta-analysis	2
SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family	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
PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation	2
Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum	2
RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations	2
A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome	2

MERTK missense variants in three patients with retinitis pigmentosa	2
Variability of retinopathy consequent upon novel mutations in LAMA1	2
Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)	2
Whole-exome screening for primary congenital glaucoma in Lebanon	2
Corneal ectasia associated with posterior lamellar opacification	2
Missense mutation in the PAX6 gene can cause a complex mild variable phenotype predominated by concomitant strabismus	2
Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients	2
Association of osteogenesis imperfecta and glaucoma: case report	2
Visual outcome, ocular findings, and visual quality of life in patients with Fabry disease	2
Mutations of TOPORS identified in families with retinitis pigmentosa	2
Co-occurrence of incontinentia pigmenti and down syndrome: examining patients’ potential susceptibility to autoimmune disease, autoinflammatory disease, cancer, and significant ocular disease	2
Driving with retinitis pigmentosa	2
Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy	2
Inherited retinal dystrophies in a Kuwaiti tribe	2
Typical best vitelliform dystrophy secondary to biallelic variants in BEST1	2
Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome	2
Heterozygote MTHFR A1298C mutation in a case of autosomal recessive bestrophinopathy with branch retinal vein occlusion	2
First report of tethered cord syndrome in a patient with Verheij syndrome	2
Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review	2
A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy	2
Lessons learned from research on choroideremia	2
Calculation of test-retest variability in phase I/IIa clinical trials for Inherited Retinal Degenerations	2
Biochemical measures of ovarian function in female survivors of retinoblastoma treated with intra-arterial melphalan: an initial report	2
Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy	2
Birt-Hogg-Dubé syndrome associated with chorioretinopathy and nyctalopia: a case report and review of the literature	2
A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants	2
RB1 germline mutation spectrum and clinical features in patients with unilateral retinoblastomas	2
Congenital corneal staphyloma in 8q21.11 microdeletion syndrome	2
Association of genetic variants in PDGFRA with high myopia in the Han population of southwestern China	2
Compound heterozygous mutations in the SLC4A11 gene associated with congenital hereditary endothelial dystrophy in a Chinese family	2
Nevoid basal cell carcinoma syndrome: a case report and literature review	2
Foveal hypoplasia in parents of patients with albinism	2
Is RPGR-related retinal dystrophy associated with systemic disease? A case series	2
OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion	2
Knobloch syndrome – a rare collagenopathy, revealing peripheral avascular retina	2
A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response	2
Prevalence of ocular anomalies is increased in women with polycystic ovary syndrome—exploration of association with PAX6 genotype	2
Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population	2
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism	2
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus	2
Association study of fibroblast growth factor 10 (FGF10) rs399501 polymorphism with susceptibility to high myopia in a Chinese population	2
Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review	2
Ocular manifestations of the genetic renal tubulopathies	1
Ten things you learned in your residency about retinoblastoma that have changed the 2023 Victor T. Curtin Lecture	1
PRPS1 -associated retinopathy: a diagnostic odyssey	1
Vascular and structural analyses of retinal and choroidal alterations in Fabry disease: the effect of hyperreflective foci and retinal vascular tortuosity	1
A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX	1
Pathogenicity reclassification of the RPE65 c.1580A>G (p.His527Arg) - a case report	1
Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome – A case report and review of literature	1
Mutations in AGBL5 associated with Retinitis pigmentosa	1
Initial diagnoses of patients found to be homozygous for a KCNV2 founder mutation on the Arabian Peninsula (c.427G>T; p.Glu143*)	1
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism	1
Telemedicine-based approach to caring for patients with inherited retinal diseases: patient satisfaction and diagnostic testing completion rates	1
Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females	1
Maternal transmission of RBP4 congenital eye disease: can Vitamin A help?	1
Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant	1
Resolution of cystoid macular edema with topical carbonic anhydrase inhibitor in a patient with retinal dystrophy associated with Cohen syndrome	1
Macular atrophy and focal choroidal excavation in a patient with JAG1 - related alagille syndrome	1
Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic CRB1 single nucleotide variant	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
Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1	1
Wolfram syndrome with vitelliform retinal deposits	1
Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates	1
Torpedo-like lesions in the ocular fundi of Gardner syndrome: hiding in plain view	1
Novel variant of KIF11 associated with MCLMR syndrome	1
Novel RB1 germline mutation in a healthy man	1
Correlation of the intronic LOXL1 polymorphism rs11638944 with pseudoexfoliation syndrome and glaucoma in a Greek population	1
PNPLA6 disorders: what’s in a name?	1
Non-vasogenic cystoid maculopathy in autosomal recessive bestrophinopathy: novel insights from NIR-FAF and OCTA imaging	1
AAMR syndrome in a 22-month-old and literature review	1
Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient: a case report	1
Unilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl	1
A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy	1
Development of neovascular glaucoma after intraocular surgery in Pierson syndrome	1
Spectrum and tissue distribution of RB1 pathogenic alleles in mosaic retinoblastoma patients	1
Foveal hypoplasia in a Chinese adolescent with 48, XXYY syndrome	1
Heme oxygenase-1 gene rs2071746 polymorphism in retinal vein occlusion	1
Anisometropia and asymmetric ABCA4-related cone-rod dystrophy	1
Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract	1
Aberrant gene expression yet undiminished retinal ganglion cell genesis in iPSC-derived models of optic nerve hypoplasia	1
Association between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataract	1
Syndromic retinitis pigmentosa caused by biallelic SCAPER frameshift variant	1
A case of blepharophimosis: Freeman Sheldon syndrome	1
Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene	1
A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas	1
Keratoconus in a child with partial trisomy 13	1
Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene	1
A Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesia	1
A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1	1
Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review	1
Adult-onset bestrophinopathy mistaken as central serous chorioretinopathy	1
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	1
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1	1
Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis	1
Understanding the propensity to undergo genetic testing in patients affected by inherited retinal diseases: a twelve-item questionnaire	1