Multimodal Imaging in Rare Case of Bilateral Macular Coloboma
Delhi Journal of Ophthalmology, 2023 Macular coloboma is a congenital atypical coloboma which appears as well-demarcated lesion on the macula, it can be unilateral or bilateral. We report one such case of a 15-year-old boy who presented to us with horizontal jerk nystagmus.
Shivangi Singh, Shivraj Tagare
doaj +1 more source
A Practical Guide to Genetic Eye Conditions for Paediatricians. [PDF]
J Paediatr Child HealthABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Lin R +5 more
europepmc +2 more sources
Accidental intralenticular dexamethasone intravitreal implant with the resolution of macular oedema in central retinal vein occlusion [PDF]
, 2016 No abstract ...
Abdolrahimzadeh, Solmaz +3 more
core +1 more source
Ocular manifestations in Gorlin-Goltz syndrome [PDF]
, 2019 Background: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity.
Franzone, F. +8 more
core +1 more source
Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child
Oman Journal of Ophthalmology, 2023 Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3.
H Kishore
doaj +1 more source
Chorioretinal Coloboma Complications: Retinal Detachment and Choroidal Neovascular Membrane [PDF]
, 2017 PURPOSE: To report the chorioretinal coloboma, and its association with increased risk of retinal detachment (RD) and choroidal neovascularization (CNV).
Abbey, Ashkan M. +5 more
core +3 more sources
Macular hypoplasia in congenital disorder of glycosylation type 1a [PDF]
, 2012 Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type ...
Siriwardana, Pradeep +2 more
core +3 more sources
Otx but Not Mitf Transcription Factors Are Required for Zebrafish Retinal Pigment Epithelium Development [PDF]
, 2012 Otx and Mitf transcription factors have been implicated in the development of the retinal pigmented epithelium (RPE), but the relationship between these factors and their specific roles in the development of the RPE have not been fully defined.
Lane, Brandon M., Lister, James A.
core +4 more sources
Anais Brasileiros de Dermatologia, 2004 Descreve-se uma família com síndrome dos cabelos anágenos frouxos (SCAF) associada à distrofia macular. Foram descritos os achados dermatológicos, oftalmológicos e de microscopia óptica e eletrônica de varredura de 11 indivíduos.
Mário Teruo Sato +8 more
doaj +1 more source
Comparative study of ultrasound images obtained with 10MHz and 20 MHz probes in the evaluation of the abnormalities of the posterior segment of the globe [PDF]
, 2009 A ecografia se constitui em método importante na avaliação de anormalidades do segmento posterior do globo ocular. OBJETIVO: Comparar as vantagens e desvantagens da sonda de 10 e 20 MHz da ultra-sonografia B-scan, na avaliação de imagens do segmento ...
BETINJANE, Alberto Jorge +5 more
core +2 more sources