This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas.

Investigations

Introduction to molecular genetics and genetic testing for retinal dystrophies- Electrophysiological testing
Dark adaptation
Fluorescein angiography
ICG angiography
Fundus autofluorescence in retinal dystrophies
Spectral-domain optical coherence tomography in hereditary retinal dystrophies. Inherited Retinal Dystrophies
Inherited stationary disorders of the retina
Retinitis pigmentosa and allied disorders
Leber congenital amaurosis
Retinitis punctata albescens
Usher Syndromes
Cone and Cone-rod dystrophies
Enhanced S-Cone syndrome
Chorioretinopathies: Choroideremia and gyrate atrophy
Late onset retinal degeneration
Stargardt Disease
Bestrophinopathies
Retinal dystrophies associated with the PRPH2 gene
Alström syndrome
Bardet-Biedl syndrome
Cohen syndrome
Juvenile neuronal ceroid lipofuscinosis (JNCL)
Adult Refsum disease
Abetalipoproteinemia
LCHAD deficiency
Jalili syndrome
Spinocerebellar ataxia
Dominant cystoid macular dystrophy
Autosomal dominant Stargardt-like macular dystrophy (ELOVL4). - Spastic paraplegia and retinal degeneration. Kjellin syndrome
Autosomal dominant drusen
Cuticular drusen
Extensive macular atrophy with pseudodrusen-like appearance (EMAP)
Congenital hypotrichosis with juvenile macular dystrophy
Mitochondrial retinopathies
Sorsby fundus dystrophy
Bietti crystalline corneoretinal dystrophy
Cystinosis
Oxalosis
Alport syndrome
X-linked retinoschisis
Paramacular choriocapillaris atrophy
Exudative vitreoretinopathy
Stickler syndrome
Wagner syndrome
Incontinentia pigmenti Type II (IP2)
Ganglion cell disease
Pseudoxanthoma elasticum
Aicardi Syndrome
Chorioretinal dysplasia-microcephaly-mental retardation syndrome (Azial-Dufier syndrome)
Alagille syndrome
Future therapies for retinitis pigmentosa.