Results 121 to 130 of about 10,294 (182)

Variants in NR6A1 cause a novel oculo vertebral renal syndrome. [PDF]

Nat Commun
Neelathi UM, Ullah E, George A, Maftei MI, Boobalan E, Sanchez-Mendoza D, Adams C, McGaughey D, Sergeev YV, Ai Rawi R, Naik A, Bender C, Maumenee IH, Michaelides M, Tan TG, Lin S, Villasmil R, Blain D, Hufnagel RB, Arno G, Young RM, Guan B, Brooks BP.   +22 more
europepmc   +1 more source

Long term outcome of in situ scleral fixation of subluxated capsular bag - intraocular lens complex. [PDF]

Indian J Ophthalmol
Fathima A, Sadasivan SK, Chandrasekharan S, Khader MA, Rengappa R, Ravindran M, Uduman MS.   +6 more
europepmc   +1 more source

Congenital disorder of deglycosylation 2. Report of a novel <i>MAN2C1</i> pathogenic variant and additional phenotypic implications. [PDF]

Mol Genet Metab Rep
Aguirre-Guillen RL, Arredondo-Navarro LÁ, Hernández-Rodríguez MF, Eduardo MT, Del Rosario CPM, Arce-Lozoya MA, Ochoa-Padilla E, Rodríguez-Machuca VU.   +7 more
europepmc   +1 more source

Microspherophakia with an atypical temporal iris coloboma in a young female. [PDF]

BMJ Case Rep
Shah A, Kaliaperumal S, Stephen M, Ramachandran K.   +3 more
europepmc   +1 more source

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases. [PDF]

Clin Genet
Brightman D, Shinwari N, Porollo A, Dosunmu EO, Ullah E, Guan B, Hufnagel RB, Brooks BP, Blain D, Fuhrmann S, Simpson B, Slavotinek AM.   +11 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum of FOXC1-Related Axenfeld-Rieger Syndrome Type 3: A Case Report. [PDF]

Cureus
Mourad A, Ward H, Lorenz N, Patel K, Butala M.   +4 more
europepmc   +1 more source

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Ocular coloboma

Survey of Ophthalmology, 1981
Ocular coloboma is common malformation which includes a spectrum of anomalies that ranges from iris coloboma to clinical anophthalmos. Coloboma is etiologically heterogeneous. As an isolated defect, it is usually inherited as an autosomal dominant disorder, although autosomal recessive inheritance also occurs.
exaly   +3 more sources

Paramacular Coloboma

Optometry and Vision Science, 2003
Paramacular coloboma (plural: colobomata) is a solitary oval football or torpedo-shaped chorioretinal lesion located temporal to the fovea in one or both eyes. Previous case reports have speculated varying etiology, but few have justified its pathognomonic shape and location.
Debi, Pian, Steven, Ferrucci, Sheila F, Anderson, Connie, Wu   +3 more
openaire   +2 more sources