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Basic knowledge. Retinal histology and anatomical landmarks
Fluorescein angiography
Optical coherence tomography
Fundus autofluorescence
Electroretinography
Electrooculography
Glossary of relevant genetic and molecular/cell biology
X-linked forms. X-linked retinitis pigmentosa
X-linked choroideremia
X-linked juvenile retinoschisis
X-linked ocular albinism
Progressive cone dystrophy and cone-rod dystrophy (XL, AD, and AR)
Congenital stationary night blindness
Blue cone monochromatism
Autosomal dominant forms. Autosomal dominant retinitis pigmentosa
Best vitelliform macular dystrophy
Pattern dystrophy
Doyne honeycomb retinal dystrophy (malattia leventinese, autosomal dominant drusen)
Occult macular dystrophy
Sorsby pseudoinflammatory fundus dystrophy
North Carolina macular dystrophy
Pigmented paravenous chorioretinal atrophy (PPCRA)
Late-Onset Retinal Degeneration
Autosomal Recessive Form. Rod Monochromatism (Achromatopsia)
Retinitis pigmentosa (non-syndromic)
Leber congenital amaurosis
Stargardt disease
Enhanced S-cone syndrome (Goldmann-Favre syndrome)
Best vitelliform macular dystrophy
Systemic disorders. Mitochondrial disorder: Kearns-Sayre syndrome
Mitochondrial disorder: maternally inherited diabetes and deafness
Ciliopathy: Usher syndrome
Ciliopathy: Bardet-Biedl syndrome
Ciliopathy: Senior-Løken syndrome
Ciliopathy: Alström syndrome
Ciliopathy: Sjögren-Larsson syndrome
Inborn errors of metabolism: Gyrate atrophy
Inborn errors of metabolism: pseudoxanthoma elasticum
Inborn errors of metabolism: Refsum disease
Inborn errors of metabolism: Bietti Crystalline dystrophy
Extracellular matrix: Alport syndrome
Phakomatoses. Von Hippel-Lindau disease
Tuberous sclerosis
Neurofibromatosis
Phenocopies. Rubella retinopathy
Syphilis
Autoimmune retinopathy
Drug-induced retinal toxicity
Acute zonal occult outer retinopathy (AZOOR) and related diseases
Diffuse unilateral subacute neuroretinitis (DUSN)
Managing IRDs in clinics. A practical approach to retinal dystrophies
Genetic testing for inherited retinal dystrophy: basic understanding.
Fluorescein angiography
Optical coherence tomography
Fundus autofluorescence
Electroretinography
Electrooculography
Glossary of relevant genetic and molecular/cell biology
X-linked forms. X-linked retinitis pigmentosa
X-linked choroideremia
X-linked juvenile retinoschisis
X-linked ocular albinism
Progressive cone dystrophy and cone-rod dystrophy (XL, AD, and AR)
Congenital stationary night blindness
Blue cone monochromatism
Autosomal dominant forms. Autosomal dominant retinitis pigmentosa
Best vitelliform macular dystrophy
Pattern dystrophy
Doyne honeycomb retinal dystrophy (malattia leventinese, autosomal dominant drusen)
Occult macular dystrophy
Sorsby pseudoinflammatory fundus dystrophy
North Carolina macular dystrophy
Pigmented paravenous chorioretinal atrophy (PPCRA)
Late-Onset Retinal Degeneration
Autosomal Recessive Form. Rod Monochromatism (Achromatopsia)
Retinitis pigmentosa (non-syndromic)
Leber congenital amaurosis
Stargardt disease
Enhanced S-cone syndrome (Goldmann-Favre syndrome)
Best vitelliform macular dystrophy
Systemic disorders. Mitochondrial disorder: Kearns-Sayre syndrome
Mitochondrial disorder: maternally inherited diabetes and deafness
Ciliopathy: Usher syndrome
Ciliopathy: Bardet-Biedl syndrome
Ciliopathy: Senior-Løken syndrome
Ciliopathy: Alström syndrome
Ciliopathy: Sjögren-Larsson syndrome
Inborn errors of metabolism: Gyrate atrophy
Inborn errors of metabolism: pseudoxanthoma elasticum
Inborn errors of metabolism: Refsum disease
Inborn errors of metabolism: Bietti Crystalline dystrophy
Extracellular matrix: Alport syndrome
Phakomatoses. Von Hippel-Lindau disease
Tuberous sclerosis
Neurofibromatosis
Phenocopies. Rubella retinopathy
Syphilis
Autoimmune retinopathy
Drug-induced retinal toxicity
Acute zonal occult outer retinopathy (AZOOR) and related diseases
Diffuse unilateral subacute neuroretinitis (DUSN)
Managing IRDs in clinics. A practical approach to retinal dystrophies
Genetic testing for inherited retinal dystrophy: basic understanding.