Results 1 to 10 of about 3,243 (173)
Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family [PDF]
Cells, 2022 Macular coloboma (MC) is a rare congenital retinochoroidal defect characterized by lesions of different sizes in the macular region. The pathological mechanism underlying congenital MC is unknown.
Shuang Zhang +7 more
doaj +2 more sources
Bilateral Congenital Macular Coloboma: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2023 Macular coloboma is a rare disorder with congenital retinochoroidal defect. It has been divided into three categories- Pigmented macular coloboma, non pigmented macular coloboma and macular coloboma with abnormal vessels.
Manisha Nada +4 more
doaj +3 more sources
Bilateral Macular Coloboma: A Rare Entity
Delhi Journal of Ophthalmology, 2022 A macular coloboma is rare, congenital entity characterized by round or oval area of chorioretinal atrophy of variable size at the macula. A 20-year-old male visited to out patient department with a complain of poor vision in both eyes. Patient underwent
Rajlaxmi Virkar +5 more
doaj +2 more sources
Bilateral congenital macular coloboma and cataract: A case report. [PDF]
Medicine (Baltimore), 2019 Abstract Rationale: The case with congenital macular coloboma and cataract was rarely reported, and the pathogenic gene of the disease is still not clear. Moreover, it is difficult to improve the visual acuity of the eye with this disease.
Zhang C +5 more
europepmc +3 more sources
Achondroplasia and Macular Coloboma.
Middle East Afr J Ophthalmol, 2015 Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy.
Ahoor MH, Amizadeh Y, Sorkhabi R.
europepmc +4 more sources
ABCA4-associated maculopathy suspected to be ocular toxoplasmosis [PDF]
BMC OphthalmologyBackground Macular coloboma is a rare congenital anomaly that may mimic other retinal pathologies, including infectious disease and inherited retinal dystrophies.
Maram E. A. Abdalla Elsayed +2 more
doaj +2 more sources
Utility of optical coherence tomography in a case of bilateral congenital macular coloboma
Indian Journal of Ophthalmology, 2016 Macular coloboma is a congenital defect of the retina and choroid in the macular region. It may appear due to an intrauterine inflammation or a developmental abnormality.
José Enrique Muñoz de Escalona Rojas +2 more
doaj +2 more sources
[Unilateral macular coloboma: about a case]. [PDF]
Pan Afr Med J, 2017 Macular coloboma is a congenital condition characterized by failure of closure of the fetal intraocular fissure which may have a hereditary origin. Clinically, it is characterized by decreased visual acuity with macular excavated lesion characterized by missing or rudimentary retinal tissue and scleral ectasia.
El Bahloul M +4 more
europepmc +3 more sources
Bilateral macular coloboma viewed through multimodal imaging
TNOA Journal of Ophthalmic Science and Research, 2021 A 55-year-old female presented with a defective vision since childhood. The fundus examination revealed a well-demarcated macular excavation of 2 1/2 disc diameters.
Akruti Gunderia +5 more
doaj +2 more sources