Results 121 to 130 of about 3,282 (209)

Hereditary macular coloboma. [PDF]

Journal of Medical Genetics, 1970
openaire   +2 more sources

Ocular findings in Baraitser–Winter syndrome with a de novo mutation in the ACTG1 gene: a case report

BMC Ophthalmology
Background Baraitser–Winter syndrome (BWS) is rare, and no previous reports have described the visual course of patients with this condition. Herein, we report the long-term visual outcomes and ocular features of a 6-year-old patient diagnosed with BWS ...
Jae Won Kim, Sook-Young Kim, Donghun Lee
doaj   +1 more source

A Case Report of Bilateral Congenital Macular Coloboma

EyeQuest
Abstract Macular coloboma is a rare eye condition affecting approximately 0.5–0.7 per 10,000 live births. It appears as well-demarcated atrophic lesions, visible on fundus examination and may affect one or both eyes. This report discusses a 19-year-old male who presented to the outpatient clinic with complaints of poor vision in both eyes ...
Shailja Kumari, Asif Shahnawaz, Kumari Preeti   +2 more
openaire   +1 more source

Unilateral isolated macular coloboma - A rare finding

Indian Journal of Ophthalmology - Case Reports, 2021
Saswati Sen, Manmath K Das, Abhilash Chougule   +2 more
openaire   +1 more source

Serous macular detachment due to nasally located optic disc pit-coloboma [PDF]

International Journal of Ophthalmology, 2018
Sofia Theodoropoulou, George Theodossiadis, Ahmed Sallam, Panagiotis Theodossiadis   +3 more
doaj   +1 more source

MACULAR COLOBOMA IN A CHILD WITH USHER SYNDROME.

Journal of Ayub Medical College, Abbottabad : JAMC, 2015
Macular coloboma is a rare entity and its concomitance with Usher syndrome is described here. A 14 years male child was studied in detail along with other family members. He underwent two complete ophthalmologic examinations (4-years follow-up), including visual assessment, orthoptic evaluation, colour vision test, visual fields, corneal topography ...
Mazhar, Ishaq, Ahsan, Mukhtar, Saim, Khan   +2 more
openaire   +1 more source

Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma. [PDF]

Mol Med Rep, 2017
Li T, Lin Y, Gao H, Chen C, Zhu Y, Liu B, Lian Y, Li Y, Zhou W, Jiang H, Li H, Wu Q, Liang X, Jin C, Huang X, Lu L.   +15 more
europepmc   +1 more source

Optic disc pit maculopathy: when and how to treat? A review of the pathogenesis and treatment options [PDF]

, 2015

core   +1 more source

Bilateral Macular Coloboma With Eccentric Fixation Confirmed by Microperimetry: A Case Report. [PDF]

Cureus
Tamura Y, Wakuta M, Aoki R, Mikuni M, Higashijima F, Yoshimoto T, Ohta M, Yamamoto K, Hirano S, Kimura K.   +9 more
europepmc   +1 more source

A case report of macular coloboma as an ocular clinical feature in Sturge Weber Syndrome. [PDF]

Int J Surg Case Rep
Alhussain B, Alsubaie H, Owaidhah O.
europepmc   +1 more source