Retinitis pigmentosa Flashcards
What is the primary effect of retinitis pigmentosa?
It primarily affects the peripheral retina resulting in tunnel vision
Tunnel vision occurs due to the loss of peripheral vision.
What is often the initial sign of retinitis pigmentosa?
Night blindness
Night blindness is a common early symptom experienced by individuals.
What visual symptom is associated with retinitis pigmentosa due to the loss of peripheral retina?
Tunnel vision
Occasionally referred to as funnel vision.
What characteristic finding can be observed during fundoscopy in retinitis pigmentosa?
Black bone spicule-shaped pigmentation in the peripheral retina, mottling of the retinal pigment epithelium
These findings are indicative of the disease’s progression.
Which disease is associated with retinitis pigmentosa and includes symptoms such as cerebellar ataxia and deafness?
Refsum disease
Refsum disease may also present with peripheral neuropathy and ichthyosis.
Name a syndrome associated with retinitis pigmentosa that also includes hearing loss.
Usher syndrome
Usher syndrome involves both retinitis pigmentosa and hearing impairment.
What is the relationship between abetalipoproteinemia and retinitis pigmentosa?
Abetalipoproteinemia is associated with retinitis pigmentosa
This condition involves deficiencies in lipid absorption.
Fill in the blank: _______ syndrome is associated with retinitis pigmentosa and includes obesity and polydactyly.
Lawrence-Moon-Biedl syndrome
This syndrome has multiple phenotypic features.
What mitochondrial syndrome is associated with retinitis pigmentosa?
Kearns-Sayre syndrome
Kearns-Sayre syndrome can lead to various systemic manifestations.
Which syndrome associated with retinitis pigmentosa is characterized by kidney disease?
Alport’s syndrome
Alport’s syndrome primarily affects the kidneys and can lead to progressive renal failure.
