Search Results - "Eye abnormalities"

Universal Newborn Eye Screening in São Paulo, Brazil.

Authors: Scherm P Schwartz DK Costa MAAC et al.

Source: Ophthalmic surgery, lasers & imaging retina [Ophthalmic Surg Lasers Imaging Retina] 2026 May; Vol. 57 (5), pp. 334-337. Date of Electronic Publication: 2026 Apr 15.

Publication Type: Journal Article

Journal Info: Publisher: Healio.com Country of Publication: United States NLM ID: 101599215 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2325-8179 (Electronic) Linking ISSN: 23258160 NLM ISO Abbreviation: Ophthalmic Surg Lasers Imaging Retina Subsets: MEDLINE

Prenatal sonographic diagnosis of oculo-auriculo-vertebral spectrum in a mid-trimester fetus.

Authors: Wang J Luo H

Source: Medical ultrasonography [Med Ultrason] 2026 Jun 26; Vol. 28 (2), pp. 249-250.

Publication Type: Journal Article; Case Reports; Letter

Journal Info: Publisher: Iuliu Haţieganu" Medical Pub. House Country of Publication: Romania NLM ID: 101522985 Publication Model: Print Cited Medium: Internet ISSN: 2066-8643 (Electronic) Linking ISSN: 18444172 NLM ISO Abbreviation: Med Ultrason Subsets: MEDLINE

A Rare Case of Childhood Glaucoma Resulting from Anterior Segment Dysgenesis Associated with a Homozygous Mutation in the CPAMD8 Gene.

Authors: Veleva-Krasteva N Genov K Kamenarova K et al.

Source: Genes [Genes (Basel)] 2026 Apr 21; Vol. 17 (4). Date of Electronic Publication: 2026 Apr 21.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.

Authors: Diler Durgut B Türkyılmaz A

Source: Neurocase [Neurocase] 2026 Apr; Vol. 32 (2), pp. 76-79. Date of Electronic Publication: 2026 Apr 14.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Routledge Country of Publication: England NLM ID: 9511374 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1465-3656 (Electronic) Linking ISSN: 13554794 NLM ISO Abbreviation: Neurocase Subsets: MEDLINE

Characterization of a spontaneous microphthalmia-like mutant mouse with isolated ocular defects.

Authors: Wang J Gao F Zheng Y et al.

Source: PloS one [PLoS One] 2026 Mar 02; Vol. 21 (3), pp. e0340185. Date of Electronic Publication: 2026 Mar 02 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Insight into genes responsible for cornea plana, megalocornea, keratoconus and brittle cornea syndrome.

Authors: Zhu D Zheng Y Jiang Y et al.

Source: Molecular vision [Mol Vis] 2026 Feb 07; Vol. 32, pp. 70-82. Date of Electronic Publication: 2026 Feb 07 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

Uncommon Associations in Duchenne Muscular Dystrophy: Coexistence of Patent Foramen Ovale and Ocular Anomalies.

Authors: Li X Zhan L Jiang X

Source: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP [J Coll Physicians Surg Pak] 2026 Feb; Vol. 36 (2), pp. 287-288.

Publication Type: Journal Article

Journal Info: Publisher: College of Physicians and Surgeons Pakistan Country of Publication: Pakistan NLM ID: 9606447 Publication Model: Print Cited Medium: Internet ISSN: 1681-7168 (Electronic) Linking ISSN: 1022386X NLM ISO Abbreviation: J Coll Physicians Surg Pak Subsets: MEDLINE; In Process

Diagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center Experience

Authors: Akalın A Avcı Durmuşalioğlu E Özkalkak Ş et al.

Source: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2025 Dec 11; Vol. 17 (4), pp. 436-448. Date of Electronic Publication: 2025 Apr 11.

Publication Type: Journal Article

Journal Info: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

No optic pit macular retinoschisis associated with macular hole and chorioretinal scars: A case report.

Authors: Franceschi A Zemella N

Source: European journal of ophthalmology [Eur J Ophthalmol] 2025 Nov; Vol. 35 (6), pp. NP50-NP54. Date of Electronic Publication: 2025 May 27.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9110772 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1724-6016 (Electronic) Linking ISSN: 11206721 NLM ISO Abbreviation: Eur J Ophthalmol Subsets: MEDLINE

Hybrid cavitary disc anomaly - A case series and proposal of a novel classification system.

Authors: Palanivel S Rajendran A Maitra P et al.

Source: Indian journal of ophthalmology [Indian J Ophthalmol] 2025 Nov 01; Vol. 73 (11), pp. 1627-1632. Date of Electronic Publication: 2025 Oct 29.

Publication Type: Journal Article

Journal Info: Publisher: Medknow Publications Country of Publication: India NLM ID: 0405376 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1998-3689 (Electronic) Linking ISSN: 03014738 NLM ISO Abbreviation: Indian J Ophthalmol Subsets: MEDLINE

The Associations of Congenital Optic Nerve Hypoplasia With Microcornea/Sclerocornea.

Authors: Maitra P Palanivel S Maitray A et al.

Source: Journal of pediatric ophthalmology and strabismus [J Pediatr Ophthalmol Strabismus] 2026 Jan-Feb; Vol. 63 (1), pp. 35-44. Date of Electronic Publication: 2025 Jul 30.

Publication Type: Journal Article

Journal Info: Publisher: Slack Country of Publication: United States NLM ID: 7901143 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1938-2405 (Electronic) Linking ISSN: 01913913 NLM ISO Abbreviation: J Pediatr Ophthalmol Strabismus Subsets: MEDLINE

Genotype-phenotype correlations and functional characterization of novel PAX2 variants in a 10-patient pediatric cohort.

Authors: Fu M Zhuang H Wen Y et al.

Source: Renal failure [Ren Fail] 2025 Dec; Vol. 47 (1), pp. 2552911. Date of Electronic Publication: 2025 Sep 15.

Publication Type: Journal Article

Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8701128 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-6049 (Electronic) Linking ISSN: 0886022X NLM ISO Abbreviation: Ren Fail Subsets: MEDLINE

Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.

Authors: Chen J Gao D Hu J et al.

Source: BMC pediatrics [BMC Pediatr] 2025 Nov 04; Vol. 25 (1), pp. 905. Date of Electronic Publication: 2025 Nov 04.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

Potential Involvements of Anterior Segment Dysgenesis-Associated Genes in Primary Congenital Glaucoma.

Authors: Pyatla G Bera S Mishra A et al.

Source: Seminars in ophthalmology [Semin Ophthalmol] 2025 Nov; Vol. 40 (8), pp. 733-742. Date of Electronic Publication: 2024 Dec 09.

Publication Type: Journal Article; Review

Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8610759 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5205 (Electronic) Linking ISSN: 08820538 NLM ISO Abbreviation: Semin Ophthalmol Subsets: MEDLINE

Delayed recognition of Joubert syndrome in a child initially diagnosed with autism spectrum disorder without intellectual impairment.

Authors: Aksoy HU Çiçek AU

Source: BMJ case reports [BMJ Case Rep] 2026 Jul 08; Vol. 19 (7). Date of Electronic Publication: 2026 Jul 08.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

[Clinical features and genetic analysis for PAX6-associated ocular diseases].

Authors: Li YM Yang LZ Sui RF

Source: [Zhonghua yan ke za zhi] Chinese journal of ophthalmology [Zhonghua Yan Ke Za Zhi] 2026 Jun 11; Vol. 62 (6), pp. 444-453.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: Chinese Medical Association Country of Publication: China NLM ID: 16210540R Publication Model: Print Cited Medium: Print ISSN: 0412-4081 (Print) Linking ISSN: 04124081 NLM ISO Abbreviation: Zhonghua Yan Ke Za Zhi Subsets: MEDLINE

Onset of Ocular Abnormalities in Children with Hearing Loss.

Authors: Chen A O'Neil E Datz E et al.

Source: Ophthalmology [Ophthalmology] 2026 Jun; Vol. 133 (6), pp. 755-763. Date of Electronic Publication: 2026 Feb 09.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7802443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-4713 (Electronic) Linking ISSN: 01616420 NLM ISO Abbreviation: Ophthalmology Subsets: MEDLINE

Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomalies.

Authors: Ceroni F Reis LM Watkins F et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jun; Vol. 34 (6), pp. 874-879. Date of Electronic Publication: 2026 Apr 07.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Novel variant in FGFR2 in a family with anterior segment anomalies.

Authors: Chattannavar G Haefeli LM Procopio R et al.

Source: Ophthalmic genetics [Ophthalmic Genet] 2026 Jun; Vol. 47 (3), pp. 304-308. Date of Electronic Publication: 2026 Jan 04.

Publication Type: Journal Article; Case Reports; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

ABL kinases regulate FGF signaling independent of CRK phosphorylation to prevent Peters anomaly type II.

Authors: Wu H Mao Y Wang Q et al.

Source: Nature communications [Nat Commun] 2026 May 13; Vol. 17 (1). Date of Electronic Publication: 2026 May 13.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE