Research & Literature

Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.

Hedergott A, Volk AE, Herkenrath P, et al.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2015; (253(12)):2239-46 doi:10.1007/s00417-015-3174-0.

Comparing DTL microfiber and Neuroline skin electrode in the Mini Ganzfeld ERG.

Lapkovska A, Palmowski-Wolfe AM, Todorova MG

BMC ophthalmology 2016; (16()):137 doi:10.1186/s12886-016-0311-4.

Cerebral versus Ocular Visual Impairment: The Impact on Developmental Neuroplasticity.

Martín MB, Santos-Lozano A, Martín-Hernández J, et al.

Frontiers in psychology 2016; (7()):1958 doi:10.3389/fpsyg.2016.01958.

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene.

Jacobson SG, Cideciyan AV, Sumaroka A, et al.

Investigative ophthalmology & visual science 2017; (58(5)):2609-2622 doi:10.1167/iovs.17-21560.

The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.

Men CJ, Bujakowska KM, Comander J, et al.

Molecular vision 2017; (23()):695-706.

Is there consensus in defining childhood cerebral visual impairment? A systematic review of terminology and definitions.

Sakki HEA, Dale NJ, Sargent J, et al.

The British journal of ophthalmology 2018; (102(4)):424-432 doi:10.1136/bjophthalmol-2017-310694.

ISCEV guide to visual electrodiagnostic procedures.

Robson AG, Nilsson J, Li S, et al.

Documenta ophthalmologica. Advances in ophthalmology 2018; (136(1)):1-26 doi:10.1007/s10633-017-9621-y.

Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.

Han JC, Reyes-Capo DP, Liu CY, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(7)):2707-2719 doi:10.1210/jc.2018-00496.

PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.

Zou X, Fu Q, Fang S, et al.

Retina (Philadelphia, Pa.) 2019; (39(10)):2040-2052 doi:10.1097/IAE.0000000000002242.

Defining renal phenotype in Alström syndrome.

Baig S, Paisey R, Dawson C, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2020; (35(6)):994-1001 doi:10.1093/ndt/gfy293.

Review of Ocular Manifestations of Joubert Syndrome.

Wang SF, Kowal TJ, Ning K, et al.

Genes 2018; (9(12)) doi:10.3390/genes9120605.

Leber Congenital Amaurosis.

Tsang SH, Sharma T

Advances in experimental medicine and biology 2018; (1085()):131-137 doi:10.1007/978-3-319-95046-4_26.

Ciliopathy: Senior-Løken Syndrome.

Tsang SH, Aycinena ARP, Sharma T

Advances in experimental medicine and biology 2018; (1085()):175-178 doi:10.1007/978-3-319-95046-4_34.

Munson's Sign: An Obvious Finding to Explain Acute Vision Loss.

Gold J, Chauhan V, Rojanasthien S, Fitzgerald J

Clinical practice and cases in emergency medicine 2019; (3(3)):312-313 doi:10.5811/cpcem.2019.5.42793.

Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine.

Kondkar AA, Abu-Amero KK

Experimental eye research 2019; (189()):107834 doi:10.1016/j.exer.2019.107834.

GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.

Bouzia Z, Georgiou M, Hull S, et al.

American journal of ophthalmology 2020; (210()):59-70 doi:10.1016/j.ajo.2019.10.019.

A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report.

Salehi Chaleshtori AR, Garshasbi M, Salehi A

Journal of current ophthalmology 2019; (31(4)):458-462 doi:10.1016/j.joco.2019.07.002.

Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians.

Suppiej A, Marino S, Reffo ME, et al.

Italian journal of pediatrics 2019; (45(1)):168 doi:10.1186/s13052-019-0760-5.

Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.

Motta FL, Martin RP, Porto FBO, et al.

Genes 2019; (11(1)) doi:10.3390/genes11010024.

The effect of human gene therapy for RPE65-associated Leber's congenital amaurosis on visual function: a systematic review and meta-analysis.

Wang X, Yu C, Tzekov RT, et al.

Orphanet journal of rare diseases 2020; (15(1)):49 doi:10.1186/s13023-020-1304-1.

Intraocular Lens Dislocation into the Anterior Chamber because of Repeated Eye-Poking in a Patient with Leber's Congenital Amaurosis.

Al-Owaid AA, Alarfaj MA, Alarfaj FA, Awad A

Case reports in ophthalmology 2020; (11(1)):48-53 doi:10.1159/000505596.

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.

Radha Rama Devi A, Naushad SM, Lingappa L

Pediatric neurology 2020; (106()):43-49 doi:10.1016/j.pediatrneurol.2020.01.012.

Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.

Surl D, Shin S, Lee ST, et al.

Molecular vision 2020; (26()):26-35.

Morpho-functional survey in children suspected of inherited retinal dystrophies via video recording, electrophysiology and genetic analysis.

Ruberto G, Guagliano R, Barillà D, et al.

International ophthalmology 2020; (40(10)):2523-2534 doi:10.1007/s10792-020-01432-2.

Voretigene Neparvovec: A Review in RPE65 Mutation-Associated Inherited Retinal Dystrophy.

Kang C, Scott LJ

Molecular diagnosis & therapy 2020; (24(4)):487-495 doi:10.1007/s40291-020-00475-6.

Consensus clinical management guidelines for Alström syndrome.

Tahani N, Maffei P, Dollfus H, et al.

Orphanet journal of rare diseases 2020; (15(1)):253 doi:10.1186/s13023-020-01468-8.

Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.

Khan MI, Latif M, Saif M, et al.

The journal of gene medicine 2021; (23(1)):e3279 doi:10.1002/jgm.3279.

Optical coherence tomography imaging of the pediatric retina.

Cai S, Therattil A, Vajzovic L

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2020; (24(5)):261-267 doi:10.1016/j.jaapos.2020.05.019.

The Michigan Vision-Related Anxiety Questionnaire: A Psychosocial Outcomes Measure for Inherited Retinal Degenerations.

Lacy GD, Abalem MF, Andrews CA, et al.

American journal of ophthalmology 2021; (225()):137-146 doi:10.1016/j.ajo.2020.12.001.

Novel pathogenic MAPKBP1 variant in a family with nephronophthisis.

Al-Hamed MH, Alzaidan H, Hussein M, et al.

Clinical kidney journal 2021; (14(2)):728-730 doi:10.1093/ckj/sfaa090.

Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function.

Jacobson SG, Cideciyan AV, Sumaroka A, et al.

International journal of molecular sciences 2021; (22(4)) doi:10.3390/ijms22042031.

Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report.

Cideciyan AV, Jacobson SG, Ho AC, et al.

Nature medicine 2021; (27(5)):785-789 doi:10.1038/s41591-021-01297-7.

Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.

Azab B, Dardas Z, Aburizeg D, et al.

Genes 2021; (12(4)) doi:10.3390/genes12040593.

An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials.

Chiu W, Lin TY, Chang YC, et al.

International journal of molecular sciences 2021; (22(9)) doi:10.3390/ijms22094534.

ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.

De Zaeytijd J, Van Cauwenbergh C, De Bruyne M, et al.

Retina (Philadelphia, Pa.) 2021; (41(6)):1346-1355 doi:10.1097/IAE.0000000000003028.

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.

Aoun M, Passerini I, Chiurazzi P, et al.

International journal of molecular sciences 2021; (22(13)) doi:10.3390/ijms22137207.

Full-field stimulus testing: Role in the clinic and as an outcome measure in clinical trials of severe childhood retinal disease.

Roman AJ, Cideciyan AV, Wu V, et al.

Progress in retinal and eye research 2022; (87()):101000 doi:10.1016/j.preteyeres.2021.101000.

RPE65 Mutation-associated Inherited Retinal Disease and Gene Therapies.

Camp DA, Falabella P, Ciulla TA

International ophthalmology clinics 2021; (61(4)):125-132 doi:10.1097/IIO.0000000000000381.

Toward the Treatment of Inherited Diseases of the Retina Using CRISPR-Based Gene Editing.

Hernández-Juárez J, Rodríguez-Uribe G, Borooah S

Frontiers in medicine 2021; (8()):698521 doi:10.3389/fmed.2021.698521.

Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome.

Wu S, Yuan Z, Sun Z, et al.

American journal of medical genetics. Part A 2022; (188(3)):948-952 doi:10.1002/ajmg.a.62582.

Handheld optical coherence tomography removes barriers to imaging the eyes of young children.

Rufai SR

Eye (London, England) 2022; (36(5)):907-908 doi:10.1038/s41433-021-01884-5.

The effect of age on full-field electroretinograms recorded with skin electrodes.

Samoto D, Tanikawa A, Suzuki K, et al.

Fujita medical journal 2021; (7(4)):117-121 doi:10.20407/fmj.2020-006.

The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.

Hahn LC, Georgiou M, Almushattat H, et al.

Ophthalmology. Retina 2022; (6(8)):711-722 doi:10.1016/j.oret.2022.03.008.

Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial.

Russell SR, Drack AV, Cideciyan AV, et al.

Nature medicine 2022; (28(5)):1014-1021 doi:10.1038/s41591-022-01755-w.

RDH12 retinopathy: clinical features, biology, genetics and future directions.

Daich Varela M, Michaelides M

Ophthalmic genetics 2022; (43(3)):301-306 doi:10.1080/13816810.2022.2062392.

Hearing Loss in Adults With Alström Syndrome-Experience From the UK National Alström Service.

Quoraishi S, Mason G, Geberhiwot T, Dalton CL

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2022; (43(6)):e620-e627 doi:10.1097/MAO.0000000000003553.

In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells.

Kruczek K, Qu Z, Welby E, et al.

Stem cell reports 2022; (17(10)):2172-2186 doi:10.1016/j.stemcr.2022.08.006.

Gene Therapy for Inherited Retinal Disease: Long-Term Durability of Effect.

Leroy BP, Fischer MD, Flannery JG, et al.

Ophthalmic research 2023; (66(1)):179-196 doi:10.1159/000526317.

Flicker electroretinogram in newborn infants.

Hanson JVM, Weber C, Pfäffli OA, et al.

Documenta ophthalmologica. Advances in ophthalmology 2022; (145(3)):175-184 doi:10.1007/s10633-022-09889-5.

Addressing Self-Injurious Behavior in the Medically Complex Child: Identifying the Root Cause vs Blocking Resulting Behavior.

Low Kapalu C, Krasaelap A, Nyp SS

Journal of developmental and behavioral pediatrics : JDBP 2023; (44(2)):e137-e139 doi:10.1097/DBP.0000000000001151.

Supportive care in a patient with Alstrom syndrome with hyperphenylalaninemia and sleep problems.

Jalilolghadr S, Saffari F, Alizadeh M, et al.

Clinical case reports 2023; (11(2)):e6894 doi:10.1002/ccr3.6894.

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.

Han J, Joo K, Kim US, et al.

Korean journal of ophthalmology : KJO 2023; (37(2)):166-186 doi:10.3341/kjo.2023.0008.

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.

Zobor D, Brühwiler B, Zrenner E, et al.

International journal of molecular sciences 2023; (24(10)) doi:10.3390/ijms24108915.

A Report on Children with CEP290 Mutation, Vision Loss, and Developmental Delay.

Sahli E, Kiziltunc PB, Idil A

Beyoglu eye journal 2023; (8(3)):226-232 doi:10.14744/bej.2023.37233.

RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.

Parameswarappa DC, Bagga DK, Upadhyaya A, et al.

Ophthalmic genetics 2024; (45(3)):303-312 doi:10.1080/13816810.2024.2309559.

Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis.

Zhou Y, Huang L, Xie Y, et al.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2024; (262(9)):3029-3038 doi:10.1007/s00417-024-06450-9.

Gene Editing for CEP290-Associated Retinal Degeneration.

Pierce EA, Aleman TS, Jayasundera KT, et al.

The New England journal of medicine 2024; (390(21)):1972-1984 doi:10.1056/NEJMoa2309915.

Screening for Autism Spectrum Disorder in Children and Adolescents With Leber's Congenital Amaurosis.

Sallum JMF, Pellissari MC, Carreiro LR, de Vasconcellos CFC

American journal of ophthalmology 2024; (265()):257-274 doi:10.1016/j.ajo.2024.05.020.

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.

Heutinck PAT, van den Born LI, Vermeer M, et al.

Investigative ophthalmology & visual science 2024; (65(10)):40 doi:10.1167/iovs.65.10.40.

Safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D: a phase 1/2, multicentre, open-label, unilateral dose escalation study.

Yang P, Pardon LP, Ho AC, et al.

Lancet (London, England) 2024; (404(10456)):962-970 doi:10.1016/S0140-6736(24)01447-8.

Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy.

Danish E, Alhashem A, Naaman N, et al.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2024; (28(5)):104007 doi:10.1016/j.jaapos.2024.104007.

THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A New Treatment Outcome and Natural History Registry for Inherited Retinal Disease.

Simunovic MP, Moore AT, Grigg J, et al.

Retina (Philadelphia, Pa.) 2025; (45(2)):286-295 doi:10.1097/IAE.0000000000004296.

[Polymorphism and modern diagnostic approaches for Leber congenital amaurosis].

Khatsenko IE, Brodnitskaya EI, Kuznetsova SV

Vestnik oftalmologii 2024; (140(5)):56-62 doi:10.17116/oftalma202414005156.

Analysis of skin and corneal fiber electrodes for electroretinogram assessments in patients with major depressive disorder.

Nickel K, Tebartz van Elst L, Beringer M, et al.

Frontiers in neuroscience 2024; (18()):1501149 doi:10.3389/fnins.2024.1501149.

A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD.

Suga A, Mizobuchi K, Inooka T, et al.

Genetics in medicine open 2024; (2()):101843 doi:10.1016/j.gimo.2024.101843.

Bilateral familial retinoblastoma diagnosed via optical coherence tomography following a normal funduscopic exam.

Allphin MT, Ramasubramanian A

Familial cancer 2024; (24(1)):12 doi:10.1007/s10689-024-00424-w.

Clinical Characterization, Natural History, and Detailed Phenotyping of NMNAT1-Associated Leber Congenital Amaurosis.

Lee YJ, Jeong HC, Kim JH, Jo DH

American journal of ophthalmology 2025; (271()):396-406 doi:10.1016/j.ajo.2024.12.016.

Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center.

Upadhyaya A, Padhy SK, Teja N, et al.

Indian journal of ophthalmology 2025; (73(5)):683-690 doi:10.4103/IJO.IJO_545_24.

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies.

Marques JP, Soares CA, Carvalho AL, et al.

Clinical genetics 2025; (107(6)):600-611 doi:10.1111/cge.14691.

Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype.

Esteve-Garcia A, Sau C, Padró-Miquel A, et al.

Genes 2024; (15(12)) doi:10.3390/genes15121584.

Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes.

Akhtar Z, Altaf S, Li Y, et al.

Genes 2024; (15(12)) doi:10.3390/genes15121646.

Expanding the Mutation Spectrum for Inherited Retinal Diseases.

Lynn J, Huang SJ, Trigler GK, et al.

Genes 2024; (16(1)) doi:10.3390/genes16010032.

Alström syndrome: A rare cause of dilated cardiomyopathy in five Chinese children.

Qi Y, Lu J, Sun N, et al.

Gene 2025; (944()):149285 doi:10.1016/j.gene.2025.149285.

Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study.

Michaelides M, Laich Y, Wong SC, et al.

Lancet (London, England) 2025; (405(10479)):648-657 doi:10.1016/S0140-6736(24)02812-5.

Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.

Lieviant JA, Chan CM, Bylstra Y, et al.

European journal of human genetics : EJHG 2025; (33(12)):1627-1635 doi:10.1038/s41431-025-01833-w.

The advancements in precision medicine for Leber congenital amaurosis: Breakthroughs from genetic diagnosis to therapy.

Zhang P, Xu Z

Survey of ophthalmology 2025; (70(6)):1205-1219 doi:10.1016/j.survophthal.2025.04.005.

"My child can't see"-workup and management of children with low vision: a joint workshop of the AAPOS Low Vision Rehabilitation and Genetic Eye Diseases Committees.

Ditta L, Utz VM, Chandna A, et al.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2025; (29(3)):104229 doi:10.1016/j.jaapos.2025.104229.

Clinical Profiles of Patients with Keratoconus Visiting a Tertiary Eye Center in Kuala Lumpur, Malaysia.

Razak N, Ali BM, Halim WHWA

Journal of current ophthalmology 2024; (36(3)):252-257 doi:10.4103/joco.joco_75_24.

Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis.

Britten-Jones AC, Hickey DG, Edwards TL, Ayton LN

Genes 2025; (16(8)) doi:10.3390/genes16080888.

When Nonspecific Symptoms Conceal Kidney Disease: A Case Report on Recognizing Juvenile Nephronophthisis in Pediatric Practice.

Shah A, Shah A, Lemaire M, et al.

Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2026; (40(3)):424-429 doi:10.1016/j.pedhc.2025.08.004.

Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report.

Demirtas İ, Bek SG

Journal of medical case reports 2025; (19(1)):624 doi:10.1186/s13256-025-05655-8.

[Clinical and genetic aspects of inherited retinal dystrophies : Phenotypic and molecular characterization of 1000 IRD patients in a German tertiary referral center].

Sassen SH, Kochs CL, Saßmannshausen M, et al.

Die Ophthalmologie 2026; (123(3)):208-216 doi:10.1007/s00347-026-02383-2.

Gene therapy outcomes in young patients with RPE65-retinal degeneration.

Stephenson KAJ, Alsalamah AK, Tumber A, et al.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2026; (61(3)):685-692 doi:10.1016/j.jcjo.2026.01.016.