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. Macular OCT strongly supports the diagnosis and electrophysiology examination, if requested, is altered. Differential diagnosis includes pathologies causing atrophic and excavated macular lesion, in particular congenital toxoplasmosis.
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http://dx.doi.org/10.11604/pamj.2017.28.55.12744 | DOI Listing |
Int J Surg Case Rep
December 2024
King Khaled Eye Specialist Hospital, KKESH, Riyadh, Saudi Arabia.
Introduction And Importance: Sturge Weber Syndrome (SWS) is a congenital neurocutaneous disorder that affects several organs. Abnormal ocular findings are typically on the same side as the SWS. These changes can affect various parts of the eye, including the eyelid, front chamber, cornea, choroid, and retina.
View Article and Find Full Text PDFCurr Eye Res
November 2024
Department of Ophthalmology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, People's Republic of China.
Purpose: We analysed the refractive state and the factors that influence the best-corrected visual acuity (BCVA) in congenital macular coloboma (CMC) to provide new ideas for improving and predicting the vision of patients with CMC.
Methods: We reported three patients and reviewed 26 cases of CMC reported in the China National Knowledge Infrastructure (CNKI) database. We measured the BCVA, spherical equivalent refraction (SER), the macular coloboma's diameter and area, and the distance from the macular coloboma's nasal edge to the optic disc's temporal edge (DISTANCE).
Ophthalmic Genet
August 2024
Ocular Genetics Service, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Purpose: This study describes how the diagnosis of Usher syndrome was revised to PRPS1-associated retinopathy and Charcot-Marie-Tooth disease type 5.
Case Report: A 38-year-old female with bilaterally subnormal vision and non-congenital hearing loss was initially diagnosed with Usher syndrome, based on finding variants in three genes (MYO7A, USH2A, and PCDH15), was re-evaluated at the inherited retinal disorders clinic. She had asymmetric retinopathy and right macular pseudocoloboma.
Arch Soc Esp Oftalmol (Engl Ed)
April 2024
Departamento de Cirugía, Hospital Clínico Universitario de Valencia, Facultad de Medicina, Universidad de Valencia, Valencia, Spain.
Intrachoroidal cavitation is a finding identified with OCT initially described in myopic patients, it also appears in non-myopic patients. It can occur in both the peripapillary area and the posterior pole. Macular coloboma is a defect of embryonic development of the posterior pole, in structural OCT the absence of the retinal pigment epithelium and choroidal vessels is essential.
View Article and Find Full Text PDFOman J Ophthalmol
October 2023
Department of Ophthalmology, Al Nahdha Hospital, Muscat, Oman.
Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3. Affected individuals have short stature and often present with neurological and skeletal complications. Most have normal intelligence.
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