Results 41 to 50 of about 3,282 (209)

Clinical manifestation and prognosis of active ocular toxoplasmosis in Iran [PDF]

, 2012
Toxoplasmosis is the most common cause of posterior uveitis in the world. This study described the clinical characteristics and visual outcome of 193 patients with ocular toxoplasmosis at Feiz Hospital (Isfahan, Iran) during the last six years.
Kianersi, Farzan., Naderi Beni, Afsaneh., Naderi Beni, Zahra.   +2 more
core   +1 more source

The pull of the macula: Optic disc dragging in large macular coloboma

Oman Journal of Ophthalmology
Macular coloboma is an excavation at the macula with defective or rudimentary retinal tissue. Here, we present an unusual case of large bilateral macular coloboma with dragging of optic disc.
Sahana S. Karanth, Akansha Shetty, K. Vaishna   +2 more
doaj   +1 more source

Hyperacute spontaneous closure of a traumatic macular hole in a colobomatous eye

American Journal of Ophthalmology Case Reports, 2019
A 12 year old boy presented to us with complaints of diminution of vision following blunt injury to his left eye. Examination revealed a grade 5 retina-choroidal coloboma in left eye with haemorrhage at its inferior border.
Diva Kant Misra, Manabjyoti Barman, Nilutparna Deori, Awaneesh Upadhyay   +3 more
doaj   +1 more source

Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants. [PDF]

Case Rep Genet
We present a case of an optic nerve coloboma in a 10‐month‐old girl found to have compound heterozygous USH2A variants. There were no other dysmorphic features or ocular developmental anomalies. To our knowledge, this is the first report in literature of a concomitant optic nerve coloboma in a case of nonsyndromic retinitis pigmentosa related to USH2A ...
Levine ES, Shah ND, Salcone EM.
europepmc   +2 more sources

Diagnostic exome sequencing in 266 Dutch patients with visual impairment [PDF]

, 2017
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis.
Boon, C.J.F. (Camiel), Born, L.I. (Ingeborgh) van den, Breuning, M.H. (Martijn), Castelein, S. (Steven), Cremers, F.P.M. (Frans), Haer-Wigman, L. (Lonneke), Hagen, J.M. (Johanna) van, Hehir-Kwa, J. (Jayne), Hoefsloot, E.H. (Lies), Hoyng, C.B. (Carel), Kievit, A.J.A. (Anneke J.A.), Klaver, C.C.W. (Caroline), Kroes, H.Y. (Hester), Lelieveld, S.H. (Stefan H.), Lugtenberg, D. (Dorien), Nelen, M.R. (Marcel), Pfundt, R. (Rolph), Plomp, A. (Astrid), Pott, J.W.R., Sallevelt, S.C.E.H. (Suzanne), Scheffer, H. (Hans), Verheij, J.B. (Joke), Verhoeven, V.J.M. (Virginie), Yntema, H.G., Zelst-Stams, W.A. van   +24 more
core   +1 more source

Optic disc pit maculopathy: a two-year nationwide prospective study. [PDF]

, 2018
Purpose To identify the incidence, presenting features, treatment, and clinical course of optic disc pit maculopathy (ODPM) in the United Kingdom (UK). Design A 2-year nationwide prospective population-based study.
Anna Song, David H.W. Steel, Declan C. Murphy, Javid Suleman, Jon Rees, Steve Dodds   +5 more
core   +1 more source

Optical coherence tomographic features of unilateral macular coloboma

Indian Journal of Ophthalmology, 2007
Hussain Nazimul, Mohan Ram L
doaj   +2 more sources

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs [PDF]

, 2017
Purpose: Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina expressed noncoding RNAs (ncRNAs).
Bauwens, Miriam, Cannoodt, Robrecht, Coppieters, Frauke, De Baere, Elfride, De Jaegere, Sarah, Leroy, Bart, Menten, Björn, Sante, Tom, Steyaert, Wouter, Van Cauwenbergh, Caroline, Van Laethem, Thalia, Van Schil, Kristof   +11 more
core   +2 more sources

Surgery for macular holes associated with unusual concomitant pathologies

Oman Journal of Ophthalmology, 2013
Macular hole (MH) is uncommonly seen in association with retinitis pigmentosa (RP), optic disc pit or choroidal coloboma. The visual disability in eyes with RP, optic disc pit or choroidal coloboma can range from mild to severe.
Dhanashree Ratra, Vishal Raval
doaj   +1 more source

Pigmented Birthmarks and Spinal Neurofibromas in KRAS Mosaicism—Not to Be Confused With NF1

Pediatric Dermatology, Volume 43, Issue 1, Page 128-131, January/February 2026.
ABSTRACT We report a child presenting with pigmentary skin lesions and spinal neurofibromas who was diagnosed molecularly with KRAS mosaicism. We review the previous literature of two cases of congenital skin lesions and neurofibromas and spinal nerve root hypertrophy caused by KRAS variants and highlight this presentation as an important differential ...
Karina M. Forde, Nicole Knöpfel, Ulrike Loebel, Veronica A. Kinsler   +3 more
wiley   +1 more source