Cargando…

Bilateral congenital membranous cataracts due to Glucosaminyl (N-Acetyl) Transferase 2 (GCNT2) mutation: Life-saving genetic analysis

Detalles Bibliográficos
Autores principales:	Ganatra, Snehal, Kekunnaya, Ramesh, Sachdeva, Virender
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2022
Materias:	Rare Eye Diseases, Photo Essay
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426157/ https://www.ncbi.nlm.nih.gov/pubmed/35791175 http://dx.doi.org/10.4103/ijo.IJO_2271_21

Ejemplares similares

Bilateral buphthalmos with congenital cataract in a floppy infant
por: Jacob, Ninan, et al.
Publicado: (2022)

A new entity of hypomyelination with atrophy of basal ganglia and cerebellum-like syndrome with bilateral developmental cataract
por: De Piedade Sequeira, Linda Maria Genoveva, et al.
Publicado: (2022)

Bilateral secondary angle-closure glaucoma and ciliochoroidal effusion as an initial manifestation of systemic lupus erythematosus
por: Senthilkumar, Vijayalakshmi A, et al.
Publicado: (2022)

An unusual twinning moment – A rare occurrence of unilateral congenital dacryocystocele in a pair of monozygotic identical twins
por: Ramesh, Shruthy V, et al.
Publicado: (2022)

A rare case of unilateral Axenfeld–Rieger anomaly associated with optic disc coloboma: A multimodal imaging canvas
por: Ramesh, Prasanna V, et al.
Publicado: (2022)

Bilateral Pseudomonas aeruginosa keratitis as presenting feature in an infant of cystic fibrosis
por: Lakshmipathy, Meena, et al.
Publicado: (2022)

Bilateral viral keratitis in lamellar ichthyosis: A rare ocular manifestation
por: Dhakshini, Lingappan Subramaniam, et al.
Publicado: (2022)

Multimodal imaging in a case of stellate nonhereditary idiopathic foveomacular retinoschisis
por: Yadav, Divya, et al.
Publicado: (2022)

Bilateral orbital Kimura’s disease: A case report and brief review of literature
por: Agrawal, Sahil, et al.
Publicado: (2022)

Bilateral Iris depigmentation, transillumination defects and hypotony in Vogt–Koyanagi–Harada disease
por: Garg, Mohit, et al.
Publicado: (2022)

Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations
por: Hossain, Ruhella R, et al.
Publicado: (2022)

Ocular presentation of Walker–Warburg syndrome with POM2 mutation
por: Sukhija, Jaspreet, et al.
Publicado: (2022)

Utility of multimodal ocular imaging in tuberous sclerosis complex-Review of literature along with a case illustration
por: Venkatesh, Ramesh, et al.
Publicado: (2022)

Bilateral central retinal artery occlusion: Endovenous and intra-arterial thrombolysis in a patient with a subsequent diagnosis of antiphospholipid antibody syndrome
por: Pérez, Sara M P, et al.
Publicado: (2022)

Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome
por: Kocaaga, Ayca, et al.
Publicado: (2022)

Bilateral Cataracts in Tuberous Sclerosis
por: Ganekal, Sunil, et al.
Publicado: (2014)

Pseudoproptosis in a case of familial hereditary cerebellar ataxia
por: Nivean, Pratheeba D, et al.
Publicado: (2022)

Keratoconus associated with hereditary sensory and autonomic neuropathy II
por: Shah, Zalak, et al.
Publicado: (2022)

Optic nerve demyelination as the presenting feature of adrenoleukodystrophy in a child
por: Kasturi, Nirupama, et al.
Publicado: (2022)

Congenital entropion with progeria: 4 going 40
por: Gupta, Himika, et al.
Publicado: (2022)

Eye signs in a child with ROBO3 gene mutation
por: Yoganathan, Sangeetha, et al.
Publicado: (2022)

Electron microscopy in Cogan–Reese syndrome
por: Behera, Geeta, et al.
Publicado: (2022)

Case of probable Vogt–Koyanagi–Harada syndrome: A rare presentation
por: Mehta, Kervi N, et al.
Publicado: (2022)

A rare presentation of ocular histoplasmosis in a patient with systemic nocardiosis
por: Behera, Ranjan K, et al.
Publicado: (2022)

A rare cause of acquired esotropia: Leprosy
por: Canleblebici, Mehmet, et al.
Publicado: (2022)

Ultra-widefield imaging in Takayasu arteritis
por: Das, Manmath K, et al.
Publicado: (2022)

Waardenburg Syndrome Type 1
por: Agrawal, Rakshit, et al.
Publicado: (2022)

Wolfram syndrome with a rare genetic mutation - Case report
por: Caculo, Divya U, et al.
Publicado: (2022)

Importance of adherence to topical cysteamine in infantile ocular cystinosis: An illustrative case
por: Bayram-Suverza, Mauricio, et al.
Publicado: (2022)

Polymerase chain reaction: A novel way to detect ocular dirofilariasis
por: Pradhan, Arkaprava, et al.
Publicado: (2022)

A rare case of congenital aniridia with an unusual run-on mutation in PAX6 gene
por: Ratna, Ria, et al.
Publicado: (2022)

Bacillary layer detachment in a patient with serpiginoid choroiditis
por: Rodríguez-Vidal, Cristina, et al.
Publicado: (2022)

Angle-closure glaucoma associated with autosomal recessive bestrophinopathy
por: Raja, Vidya, et al.
Publicado: (2022)

Anterior scleritis in pemphigus vulgaris: A rare ocular manifestation
por: Bhole, Pradnya K, et al.
Publicado: (2022)

Inverse Duane’s retraction syndrome – A case report
por: Murthy, Sowmya Raveendra, et al.
Publicado: (2022)

Exotropia in a case of Ellis Van Creveld syndrome: A rare case report
por: Nayak, Swatishree, et al.
Publicado: (2022)

Recurrent periorbital low-grade myofibroblastic sarcoma in an infant
por: Modaboyina, Sujeeth, et al.
Publicado: (2022)

Atypical superior iris and chorioretinal coloboma
por: Parakh, Shweta, et al.
Publicado: (2022)

Anaemic retinopathy in Kikuchi-Fujimoto disease
por: Vaidya, Harshit
Publicado: (2022)

Nevus of Ota with ipsilateral optic disc pigmentation and pigmentary glaucoma
por: Rungta, Nisha, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_8hjub7rcov3knkuk82ngr5oo0u