Results 41 to 50 of about 12,123 (207)
, 2015 Purpose: To report a case of canine atypical chorioretinal coloboma where ophthalmoscopic, fluoroangiographic and optical coherence tomography characteristics are described.
Rodríguez Álvaro, Alfonso +2 more
core +1 more source
Journal of Clinical Laboratory Analysis, EarlyView.Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee +8 more
wiley +1 more source
Evaluation of Posterior Ocular Structures in Patients with Isolated Iris Coloboma
Beyoglu Eye Journal, 2020 INTRODUCTION[|]To measure lamina cribrosa thickness (LCT), lamina cribrosa depth (LCD) and subfoveal choroidal thickness (SFCT) by imaging posterior ocular structures in pediatric cases with isolated unilateral iris coloboma and to determine the ...
Serkan Akkaya
doaj +1 more source
Clinical Genetics, EarlyView.We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon +9 more
wiley +1 more source
Scientific Reports, 2017 Ocular coloboma is a common eye malformation arising from incomplete closure of the human optic fissure during development. Multiple genetic mutations contribute to the disease process, showing extensive genetic heterogeneity and complexity of coloboma ...
Xiu-Feng Huang +7 more
doaj +1 more source
Indian Journal of Ophthalmology, 2019 To report case of bilaterally symmetrical choroidal coloboma within posterior staphyloma with MHRD. This is a case report of a 50year old female presented with diminished vision in both eyes.
Kadri Venkatesh +3 more
doaj +1 more source
Recurrent Meningitis with Upper Airway Obstruction in A Child: Frontonasal Encephalocele- A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2014 Nasal encephalocele are rare congenital anomalies; these benign masses may be confused with nasal dermoids, hemangiomas, nasal gliomas and anterior skull base masses.
Soumya Sachdeva +3 more
doaj +1 more source
A rare case of Haberland syndrome
Indian Journal of Ophthalmology. Case Reports, 2021 A 10-month-old male child presented with a mass lesion in the left eye which was present since birth as noted by the parents. It was non-progressive. He also had left eye upper eyelid coloboma and a single nodular lesion on the left zygomaticotemporal ...
Mohamed I Asif +4 more
doaj +1 more source
Equine eyelid reconstruction by semi‐circular skin flap blepharoplasty
Equine Veterinary Education, EarlyView.Summary Reconstructive surgeries of the equine eyelid carry significant challenges for the equine surgeon, due to the poorly mobile and tightly adhered facial skin in this species. Preservation of lid function is an essential surgical consideration in order to maintain protection of the globe and cornea and to provide ocular comfort to the case ...
V. J. Jordan, D. Leong, C. Hartley
wiley +1 more source
Bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome
, 2016 A rare case of bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome is reported. A 21-year-old female presented with decreased vision in both eyes. Her unaided visual acuity was 20/200 and 20/400 in the right and left eye, respectively,
Yadav, Reena +7 more
core +1 more source