Inherited retinal disease / Hyeong-Gon Yu, editors.

Format:

Book

Contributor:

Yu, Hyŏng-gon, editor.

Language:

English

Subjects (All):

Retina--Diseases--Genetic aspects.

Retina.

Ophthalmology.

Medical Subjects:

Ophthalmology.

Genre:

Electronic books.

Physical Description:

1 online resource (viii, 237 pages) : illustrations (some color)

Place of Publication:

Singapore : Springer, 2022.

System Details:

text file

PDF

Summary:

This book presents the latest knowledge and expert guidance on all aspects of inherited retinal diseases, including molecular genetics, diagnosis, clinical features, general principles of treatment, novel treatment methods, and genetic counseling. Recent years have witnessed great advances in understanding of the genetic and cytological background of these diseases. Genetic analysis methods such as next generation sequencing have remarkably reduced the cost and time required for massive analysis of patients' samples. Studies on gene therapy and stem cell therapy have been successfully carried out in animal models, and gene therapy is now available for Leber congenital amaurosis caused by RPE65 mutations. Against this background, Inherited Retinal Disease will be an invaluable up-to-date resource for ophthalmologists, medical students, and researchers in ocular inflammation. In addition to supplying essential information on each individual disorder, it features many interesting cases contributed by global leaders in the field as well as clinical photographs obtained with newer imaging techniques and numerous images of rare but clinically important diseases.

Contents:

Molecular Genetics of Inherited Retinal Diseases

Approach to Inherited Retinal Diseases

Stem Cell and Gene Therapy for Inherited Retinal Diseases

Retinitis Pigmentosa

Syndromic Retinitis.-Pigmentosa

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy

Congenital Stationary Night Blindness

Vitelliform Macular Dystrophy

Stargardt Macular Dystrophy

Cone Dystrophy / Cone-rod Dystrophy

X-Linked Retinoschisis

Von Hippel Lindau Disease and Retinal Hemangioblastoma

Other Macular Dystrophies 1

Other Macular Dystrophies 2

Hereditary Vitreoretinal Degenerations

Hereditary Choroidal Dystrophy

Retinal Disorders Mimicking Inherited Retinal Diseases.

Other Format:

Print version:

ISBN:

9811673373

9789811673375

OCLC:

1296666012

Access Restriction:

Restricted for use by site license.