Results 161 to 170 of about 3,282 (209)

Nasal Retinal Degeneration Is a Feature of a Subset of CRX-Associated Retinopathies. [PDF]

open access: yesGenes (Basel)
Massengill MT   +6 more
europepmc   +1 more source

Macular coloboma with vitreomacular traction and foveal atrophy

open access: yesIndian Journal of Ophthalmology - Case Reports
Jinyuan Wang, Shiyi Yin, Wenbin Wei
openaire   +1 more source

Characterizing a Unique Retinal Phenotype in INTS11-Associated Neurodevelopmental Disorder. [PDF]

open access: yesInvest Ophthalmol Vis Sci
Lin S   +10 more
europepmc   +1 more source
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Hereditary macular coloboma

Ophthalmic Paediatrics and Genetics, 1983
An autosomal dominant inherited macular coloboma, not combined with other dysmorphies, is reported. Because of a 'sporadic'unilateral macular coloboma in a distant relative, penetrance may be reduced and expression varying. In one patient the coloboma was complicated by bilateral retinal detachment.
F. M. H. Pasman, A. Pinckers
openaire   +1 more source

Retinal dystrophy and macular coloboma

Documenta Ophthalmologica, 1988
Seven cases of retinal dystrophy associated with bilateral macular colobomata are presented. Two separate entities were found. The first is a congenital onset pigmentary retinopathy similar in electrophysiologic findings and symptoms to typical Leber's congenital amaurosis; the second appears to be a form of pregressive cone-rod dystrophy with ...
J R, Heckenlively   +2 more
openaire   +2 more sources

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