Results 21 to 30 of about 7,292 (198)
Congenital Aniridia with Ectopia Lentis. [PDF]
J Clin Diagn Res, 2016 A 13-year-old male presented with complaints of gradual diminution of vision and photophobia in both eyes since early childhood. He had history of recurrent falls and difficulty in reading. Family history was noncontributory. Best corrected visual acuity at the time of presentation was 6/60 in both eyes.
Kusumesh R, Ambastha A.
europepmc +4 more sources
Congenital aniridia with cataract: case series. [PDF]
BMC Ophthalmol, 2017 This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation.In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2 mm clear corneal incision. A continuous circular capsulorhexis with
Wang JD +11 more
europepmc +5 more sources
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +14 more sources
Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches. [PDF]
Prog Retin Eye Res, 2023 Daruich A +16 more
europepmc +2 more sources
Biomolecules, 2021 Congenital PAX6-aniridia is a rare panocular disease resulting from limbal stem cell deficiency. In PAX6-aniridia, the downregulation of the retinol-metabolizing enzymes ADH7 (All-trans-retinol dehydrogenase 7) and ALDH1A1/A3 (Retinal dehydrogenase 1 ...
Lorenz Latta +9 more
doaj +1 more source
Congenital aniridia- there's more than meets the eye
TNOA Journal of Ophthalmic Science and Research, 2021 Congenital aniridia is a rare panocular disorder, leading to significant visual impairment which may present as an isolated ocular phenotype or in association with a systemic syndrome.
G N Subathra +2 more
doaj +1 more source
Ophthalmic Aspects of Stevens–Johnson Syndrome and Toxic Epidermal Necrolysis: A Narrative Review
Ophthalmology and Therapy, 2023 The aim of our review article was to summarize the current literature on Stevens–Johnson syndrome (SJS) and its severe form, toxic epidermal necrolysis (TEN).
Gábor Tóth +7 more
doaj +1 more source
Psychoneurological Disorders in Children with Congenital Aniridia and PAX6-Associated Syndromes
Вопросы современной педиатрии, 2023 Congenital aniridia manifests with total or partial absence of the iris. The association of the disease with the PAX6 gene has been proven. Changes in the PAX6 structure lead to intrauterine pathology, visual organ malformation, malformation of master ...
Olga S. Kupriyanova +4 more
doaj +1 more source
A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment [PDF]
, 2016 Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency.
Abdolrahimzadeh, B +5 more
core +2 more sources