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Pigmentary Retinopathy in Systemic Inherited Disease 

Pigmentary Retinopathy in Systemic Inherited Disease
Pigmentary Retinopathy in Systemic Inherited Disease

Ying Qian

, Richard Alan Lewis

, and Elias I. Traboulsi

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date: 27 January 2022

Pigmentary retinopathy refers to the migration and proliferation of retinal pigment epithelial (RPE) cells or macrophages containing melanin pigment into the retina of patients with dystrophic, infectious, or other systemic diseases. Pigmentary retinopathy mimics “retinitis pigmentosa” because of the presence of retinal dystrophic and pigmentary changes and the frequent association of night blindness, reduction of visual acuity, constriction of visual fields, and abnormal electroretinographic (ERG) findings. Hence, pigmentary retinopathy is the final common outcome of many retinal and chorioretinal disorders and often a common manifestation of numerous metabolic and neurodegenerative diseases. This chapter includes some of the diseases associated with pigmentary retinopathy: cystinosis, neuronal ceroid lipofuscinosis, mucopolysaccharidoses, Hurler syndrome, MPS I-S (Scheie syndrome), MPS II (Hunter syndrome), MPS III (Sanfilippo syndrome), MPS IV Morquio syndrome, mucolipisosis IV, Usher syndromes, Bardet-Biedl syndromes, Senior-Loken syndrome, Asphyxiating Thoracic Dystrophy (Jeune syndrome), Joubert syndrome, Abetalipoproteinemia, Gyrate atrophy, Methylmalonic aciduria with homocystinuria, Alagille syndrome, Cohen Syndrome, spinocerebellar ataxia type 7 (SCA7), Danon disease, Pantothenic Acid Kinase Deficiency (Hallervorden-Spatz disease), Hereditary Hemorrhagic Nephritis (Alport syndrome), Cockayne syndrome, and Bietti's Crystalline Retinopathy.

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