Results 21 to 30 of about 3,916 (200)
The Eye on Mitochondrial Disorders. [PDF]
, 2015 Ophthalmologic manifestations of mitochondrial disorders are frequently neglected or overlooked because they are often not regarded as part of the phenotype.
Daruich, A. +2 more
core +3 more sources
Ocular Involvement in Hereditary Amyloidosis [PDF]
, 2021 The term amyloidosis describes a group of rare diseases caused by protein conformation abnormalities resulting in extracellular deposition and accumulation of insoluble fibrillar aggregates. So far, 36 amyloid precursor proteins have been identified, and
Antoniazzi E. +9 more
core +4 more sources
Indian Journal of Ophthalmology, 2016 Background: Congenital hereditary endothelial dystrophy (CHED) is an autosomal recessive disorder characterized by bilateral, symmetrical, noninflammatory corneal clouding (edema) present at birth or shortly thereafter.
Babu Lal Kumawat +5 more
doaj +1 more source
Ocular hypertension in myopia: analysis of contrast sensitivity [PDF]
, 2018 Purpose: we evaluated the evolution of contrast sensitivity reduction in patients affected by ocular hypertension and glaucoma, with low to moderate myopia.
Arrico, L +4 more
core +1 more source
Keratoconus and granular dystrophy [PDF]
, 2014 Concurrent bilateral keratoconus and granular dystrophy is reported in a 32 year old patient with decreased vision. Initially contact lenses were attempted unsuccessfully to treat the conditions.
C. M. Wilson +12 more
core +1 more source
Genetics in Ophthalmology II–Anterior Segment Diseases
Türk Oftalmoloji Dergisi, 2012 Genetic diseases are congenital or acquired hereditary diseases that result from structural/functional disorders of the human genome. Today, the genetic factors that play a role in many diseases are being highlighted with the rapid progress in the field
Canan Aslı Utine, Gülen Eda Utine
doaj +1 more source
Amiloidose familiar relacionada ao gene gelsolin em uma família brasileira: relato de casos [PDF]
, 2011 Familial amyloidosis of the Finnish type (FAF) is an autosomal dominant form of systemic amyloidosis showing marked geographic clustering in Finland. The disease is caused by a point mutation, 654G-A, in the gelsolin gene.
Antecka, Emilia +4 more
core +2 more sources
Posterior amorphous corneal dystrophy: case report [PDF]
, 2006 The purpose of this paper is to warn the ophthalmologist about the possibility of facing rare cases of corneal dystrophies. Clinical findings of a case of posterior amorphous dystrophy were correlated with refraction, topography, and ultrasound ...
Freitas, Denise de +3 more
core +2 more sources
Update on the Corneal Dystrophies-Genetic Testing and Therapy [PDF]
, 2022 One major purpose of the IC3D Corneal Dystrophy Nomenclature Revision was to include genetic information with a goal of facilitating investigation into the pathogenesis, treatment, and perhaps even prevention of the corneal dystrophies, an ambitious goal.
Abad-Morales, Víctor +4 more
core +1 more source
Journal of Ophthalmology, 2019 Background/Aims. Corneal dystrophies (CDs) belong to a group of hereditary heterogeneous corneal diseases which result in visual impairment due to the progressive accumulation of deposits in different corneal layers.
Qin Xiang +5 more
doaj +1 more source